Username

Password

Preview

Sign-in free and Explore the Exciting World of BiomedExperts:

Over 1.500.000 Profiles
More than 1.800 Organizations worldwide
State of the Art Network Visualizations

Manage your own Profile
Locate Experts in your Country/Region
Locate Experts in your 1. and 2. Level Network
Connect to Experts Worldwide

NetworkView

Alexis Brice

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

Concepts & Ideas

Physiology

Procedures

Disorders

Chemicals & Drugs

Sign-in to see full Profile

Sign-in to see all Coauthors

Publications

TOP 3
da Costa Cristine Alves; Sunyach Claire; Giaime Emilie; West Andrew; Corti Olga; Brice Alexis; Safe Stephen; Abou-Sleiman Patrick M; Wood Nicholas W; Takahashi Hitoshi; Goldberg Mathew S; Shen Jie; Checler Frédéric
Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease.
Goizet C; Boukhris A; Maltete D; Guyant-Maréchal L; Truchetto J; Mundwiller E; Hanein S; Jonveaux P; Roelens F; Loureiro J; Godet E; Forlani S; Melki J; Auer-Grumbach M; Fernandez J C; Martin-Hardy P; Sibon I; Sole G; Orignac I; Mhiri C; Coutinho P; Durr A; Brice A; Stevanin G
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.
Rawal Nina; Corti Olga; Sacchetti Paola; Ardilla-Osorio Hector; Sehat Bita; Brice Alexis; Arenas Ernest
Parkin protects dopaminergic neurons from excessive Wnt/beta-catenin signaling.

Sign-in to see all Publications

Sign in free and see...

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the visualized research activity
of experts around the globe

Sign-in to see more

Geonetwork of Alexis Brice (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

Sign-in to see more

All Publications

2009: da Costa Cristine Alves; Sunyach Claire; Giaime Emilie; West Andrew; Corti Olga; Brice Alexis; Safe Stephen; Abou-Sleiman Patrick M; Wood Nicholas W; Takahashi Hitoshi; Goldberg Mathew S; Shen Jie; Checler Frédéric
Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease.
Nature cell biology 2009;11(11):1370-5.
2009: Goizet C; Boukhris A; Maltete D; Guyant-Maréchal L; Truchetto J; Mundwiller E; Hanein S; Jonveaux P; Roelens F; Loureiro J; Godet E; Forlani S; Melki J; Auer-Grumbach M; Fernandez J C; Martin-Hardy P; Sibon I; Sole G; Orignac I; Mhiri C; Coutinho P; Durr A; Brice A; Stevanin G
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.
Neurology 2009;73(14):1111-9.
2009: Rawal Nina; Corti Olga; Sacchetti Paola; Ardilla-Osorio Hector; Sehat Bita; Brice Alexis; Arenas Ernest
Parkin protects dopaminergic neurons from excessive Wnt/beta-catenin signaling.
Biochemical and biophysical research communications 2009;388(3):473-8.
2009: Muriel Marie-Paule; Dauphin Aurélien; Namekawa Michito; Gervais Annie; Brice Alexis; Ruberg Merle
Atlastin-1, the dynamin-like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum.
Journal of neurochemistry 2009;110(5):1607-16.
2009: Ribeiro Maria-João; Thobois Stéphane; Lohmann Ebba; du Montcel Sophie Tezenas; Lesage Suzanne; Pelissolo Antoine; Dubois Bruno; Mallet Luc; Pollak Pierre; Agid Yves; Broussolle Emmanuel; Brice Alexis; Remy Philippe;
A multitracer dopaminergic PET study of young-onset parkinsonian patients with and without parkin gene mutations.
Journal of nuclear medicine : official publication, Society of Nuclear Medicine 2009;50(8):1244-50.
2009: Depienne Christel; Moreno-De-Luca Daniel; Heron Delphine; Bouteiller Delphine; Gennetier Aurélie; Delorme Richard; Chaste Pauline; Siffroi Jean-Pierre; Chantot-Bastaraud Sandra; Benyahia Baya; Trouillard Oriane; Nygren Gudrun; Kopp Svenny; Johansson Maria; Rastam Maria; Burglen Lydie; Leguern Eric; Verloes Alain; Leboyer Marion; Brice Alexis; Gillberg Christopher; Betancur Catalina
Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
Biological psychiatry 2009;66(4):349-59.
2009: Clot Fabienne; Grabli David; Cazeneuve Cécile; Roze Emmanuel; Castelnau Pierre; Chabrol Brigitte; Landrieu Pierre; Nguyen Karine; Ponsot Gérard; Abada Myriem; Doummar Diane; Damier Philippe; Gil Roger; Thobois Stéphane; Ward Alana J; Hutchinson Michael; Toutain Annick; Picard Fabienne; Camuzat Agnès; Fedirko Estelle; Sân Chankannira; Bouteiller Delphine; LeGuern Eric; Durr Alexandra; Vidailhet Marie; Brice Alexis;
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
Brain : a journal of neurology 2009;132(Pt 7):1753-63.
2009: Lesage S; Condroyer C; Lannuzel A; Lohmann E; Troiano A; Tison F; Damier P; Thobois S; Ouvrard-Hernandez A-M; Rivaud-Péchoux S; Brefel-Courbon C; Destée A; Tranchant C; Romana M; Leclere L; Dürr A; Brice A;
Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson's disease.
Journal of medical genetics 2009;46(7):458-64.
2009: Cazeneuve Cécile; Sân Channkanira; Ibrahim Salah A; Mukhtar Maowia M; Kheir Musa M; Leguern Eric; Brice Alexis; Salih Mustafa A
A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease.
Neurogenetics 2009;10(3):265-70.
2009: Pirkevi C; Lesage S; Condroyer C; Tomiyama H; Hattori N; Ertan S; Brice A; Basak A N
A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype.
Neurogenetics 2009;10(3):271-3.
2009: Goizet Cyril; Boukhris Amir; Durr Alexandra; Beetz Christian; Truchetto Jeremy; Tesson Christelle; Tsaousidou Maria; Forlani Sylvie; Guyant-Maréchal Lucie; Fontaine Bertrand; Guimarães João; Isidor Bertrand; Chazouillères Olivier; Wendum Dominique; Grid Djamel; Chevy Françoise; Chinnery Patrick F; Coutinho Paula; Azulay Jean-Philippe; Feki Imed; Mochel Fanny; Wolf Claude; Mhiri Chokri; Crosby Andrew; Brice Alexis; Stevanin Giovanni
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Brain : a journal of neurology 2009;132(Pt 6):1589-600.
2009: Boukhris A; Stevanin G; Feki I; Denora P; Elleuch N; Miladi M I; Goizet C; Truchetto J; Belal S; Brice A; Mhiri C
Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.
Clinical genetics 2009;75(6):527-36.
2009: Lorenz Delia; Klebe Stephan; Stevanin Giovanni; Thier Sandra; Nebel Almut; Feingold Josué; Frederiksen Henrik; Denis Elodie; Christensen Kaare; Schreiber Stefan; Brice Alexis; Deuschl Günther; Dürr Alexandra
Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients.
European journal of human genetics : EJHG 2009;17(6):766-73.
2009: Hannibal M C; Ruzzo E K; Miller L R; Betz B; Buchan J G; Knutzen D M; Barnett K; Landsverk M L; Brice A; LeGuern E; Bedford H M; Worrall B B; Lovitt S; Appel S H; Andermann E; Bird T D; Chance P F
SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.
Neurology 2009;72(20):1755-9.
2009: Le Ber I; Camuzat A; Berger E; Hannequin D; Laquerrière A; Golfier V; Seilhean D; Viennet G; Couratier P; Verpillat P; Heath S; Camu W; Martinaud O; Lacomblez L; Vercelletto M; Salachas F; Sellal F; Didic M; Thomas-Anterion C; Puel M; Michel B-F; Besse C; Duyckaerts C; Meininger V; Campion D; Dubois B; Brice A;
Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease.
Neurology 2009;72(19):1669-76.
2009: Lohmann Ebba; Leclere Laurence; De Anna Francesca; Lesage Suzanne; Dubois Bruno; Agid Yves; Dürr Alexandra; Brice Alexis;
A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations.
Parkinsonism & related disorders 2009;15(4):273-6.
2009: Benajiba Lina; Le Ber Isabelle; Camuzat Agnès; Lacoste Mathieu; Thomas-Anterion Catherine; Couratier Philippe; Legallic Solenn; Salachas François; Hannequin Didier; Decousus Marielle; Lacomblez Lucette; Guedj Eric; Golfier Véronique; Camu William; Dubois Bruno; Campion Dominique; Meininger Vincent; Brice Alexis;
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration.
Annals of neurology 2009;65(4):470-3.
2009: Lesage Suzanne; Brice Alexis
Parkinson's disease: from monogenic forms to genetic susceptibility factors.
Human molecular genetics 2009;18(R1):R48-59.
2009: Rovelet-Lecrux Anne; Lecourtois Magalie; Thomas-Anterion Catherine; Le Ber Isabelle; Brice Alexis; Frebourg Thierry; Hannequin Didier; Campion Dominique
Partial deletion of the MAPT gene: a novel mechanism of FTDP-17.
Human mutation 2009;30(4):E591-602.
2009: Frédéric Mélissa Yana; Clot Fabienne; Blanchard Arnaud; Dhaenens Claire-Marie; Lesca Gaëtan; Cif Laura; Dürr Alexandra; Vidailhet Marie; Sablonniere Bernard; Calender Alain; Martinez Maria; Molinari Nicolas; Brice Alexis; Claustres Mireille; Tuffery-Giraud Sylvie; Collod-Beroud Gwenaëlle
The p.Asp216His TOR1A allele effect is not found in the French population.
Movement disorders : official journal of the Movement Disorder Society 2009;24(6):919-21.
2009: Doummar Diane; Clot Fabienne; Vidailhet Marie; Afenjar Alexandra; Durr Alexandra; Brice Alexis; Mignot Cyril; Guet Agnès; de Villemeur Thierry Billette; Rodriguez Diana
Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene.
Movement disorders : official journal of the Movement Disorder Society 2009;24(6):943-5.
2009: Mochel F; Sedel F; Vanderver A; Engelke U F H; Barritault J; Yang B Z; Kulkarni B; Adams D R; Clot F; Ding J H; Kaneski C R; Verheijen F W; Smits B W; Seguin F; Brice A; Vanier M T; Huizing M; Schiffmann R; Durr A; Wevers R A
Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA).
Brain : a journal of neurology 2009;132(Pt 3):801-9.
2009: Denora Paola S; Schlesinger David; Casali Carlo; Kok Fernando; Tessa Alessandra; Boukhris Amir; Azzedine Hamid; Dotti Maria Teresa; Bruno Claudio; Truchetto Jeremy; Biancheri Roberta; Fedirko Estelle; Di Rocco Maja; Bueno Clarissa; Malandrini Alessandro; Battini Roberta; Sickl Elisabeth; de Leva Maria Fulvia; Boespflug-Tanguy Odile; Silvestri Gabriella; Simonati Alessandro; Said Edith; Ferbert Andreas; Criscuolo Chiara; Heinimann Karl; Modoni Anna; Weber Peter; Palmeri Silvia; Plasilova Martina; Pauri Flavia; Cassandrini Denise; Battisti Carla; Pini Antonella; Tosetti Michela; Hauser Erwin; Masciullo Marcella; Di Fabio Roberto; Piccolo Francesca; Denis Elodie; Cioni Giovanni; Massa Roberto; Della Giustina Elvio; Calabrese Olga; Melone Marina A B; De Michele Giuseppe; Federico Antonio; Bertini Enrico; Durr Alexandra; Brockmann Knut; van der Knaap Marjo S; Zatz Mayana; Filla Alessandro; Brice Alexis; Stevanin Giovanni; Santorelli Filippo M
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
Human mutation 2009;30(3):E500-19.
2009: Depienne Christel; Bouteiller Delphine; Keren Boris; Cheuret Emmanuel; Poirier Karine; Trouillard Oriane; Benyahia Baya; Quelin Chloé; Carpentier Wassila; Julia Sophie; Afenjar Alexandra; Gautier Agnès; Rivier François; Meyer Sophie; Berquin Patrick; Hélias Marie; Py Isabelle; Rivera Serge; Bahi-Buisson Nadia; Gourfinkel-An Isabelle; Cazeneuve Cécile; Ruberg Merle; Brice Alexis; Nabbout Rima; Leguern Eric
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
PLoS genetics 2009;5(2):e1000381.
2009: Denora Paola S; Muglia Maria; Casali Carlo; Truchetto Jérémy; Silvestri Gabriella; Messina Demetrio; Boukrhis Amir; Magariello Angela; Modoni Anna; Masciullo Marcella; Malandrini Alessandro; Morelli Maurizio; de Leva Maria Fulvia; Villanova Marcello; Giugni Elisabetta; Citrigno Luigi; Rizza Teresa; Federico Antonio; Pierallini Alberto; Quattrone Aldo; Filla Alessandro; Brice Alexis; Stevanin Giovanni; Santorelli Filippo M
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.
Journal of the neurological sciences 2009;277(1-2):22-5.
2009: Goizet Cyril; Boukhris Amir; Mundwiller Emeline; Tallaksen Chantal; Forlani Sylvie; Toutain Annick; Carriere Nathalie; Paquis Véronique; Depienne Christel; Durr Alexandra; Stevanin Giovanni; Brice Alexis
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.
Human mutation 2009;30(2):E376-85.
2009: Anheim Mathieu; Lagier-Tourenne Clotilde; Stevanin Giovanni; Fleury Marie; Durr Alexandra; Namer Izzie Jacques; Denora Paola; Brice Alexis; Mandel Jean-Louis; Koenig Michel; Tranchant Christine
SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.
Journal of neurology 2009;256(1):104-8.
2009: Ibáñez Pablo; Lesage Suzanne; Janin Sabine; Lohmann Ebba; Durif Frank; Destée Alain; Bonnet Anne-Marie; Brefel-Courbon Christine; Heath Simon; Zelenika Diana; Agid Yves; Dürr Alexandra; Brice Alexis;
Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms.
Archives of neurology 2009;66(1):102-8.
2009: Lohmann E; Thobois S; Lesage S; Broussolle E; du Montcel S Tezenas; Ribeiro M-J; Remy P; Pelissolo A; Dubois B; Mallet L; Pollak P; Agid Y; Brice A;
A multidisciplinary study of patients with early-onset PD with and without parkin mutations.
Neurology 2009;72(2):110-6.
2009: Fournier Margot; Vitte Jérémie; Garrigue Jérôme; Langui Dominique; Dullin Jean-Philippe; Saurini Françoise; Hanoun Naïma; Perez-Diaz Fernando; Cornilleau Fabien; Joubert Chantal; Ardila-Osorio Héctor; Traver Sabine; Duchateau René; Goujet-Zalc Cécile; Paleologou Katerina; Lashuel Hilal A; Haass Christian; Duyckaerts Charles; Cohen-Salmon Charles; Kahle Philipp J; Hamon Michel; Brice Alexis; Corti Olga
Parkin deficiency delays motor decline and disease manifestation in a mouse model of synucleinopathy.
PloS one 2009;4(8):e6629.
2008: Camuzat Agnès; Romana Marc; Dürr Alexandra; Feingold Josué; Brice Alexis; Ruberg Merle; Lannuzel Annie
The PSP-associated MAPT H1 subhaplotype in Guadeloupean atypical parkinsonism.
Movement disorders : official journal of the Movement Disorder Society 2008;23(16):2384-91.
2008: Lesage S; Belarbi S; Troiano A; Condroyer C; Hecham N; Pollak P; Lohman E; Benhassine T; Ysmail-Dahlouk F; Dürr A; Tazir M; Brice A;
Is the common LRRK2 G2019S mutation related to dyskinesias in North African Parkinson disease?
Neurology 2008;71(19):1550-2.
2008: Rodrigues Guilherme G Riccioppo; Walker Ruth H; Brice Alexis; Cazeneuve Cécile; Russaouen Odile; Teive Helio A G; Munhoz Renato Puppi; Becker Nilson; Raskin Salmo; Werneck Lineu Cesar; Junior Wilson Marques; Tumas Vitor
Huntington's disease-like 2 in Brazil--report of 4 patients.
Movement disorders : official journal of the Movement Disorder Society 2008;23(15):2244-7.
2008: Guedj Eric; Allali Gilles; Goetz Celine; Le Ber Isabelle; Volteau Magali; Lacomblez Lucette; Vera Pierre; Hitzel Anne; Hannequin Didier; Decousus Marielle; Thomas-Antérion Catherine; Magne Christine; Vercelletto Martine; Bernard Anne-Marie; Didic Mira; Lotterie Jean-Albert; Puel Michèle; Brice Alexis; Habert Marie-Odile; Dubois Bruno
Frontal Assessment Battery is a marker of dorsolateral and medial frontal functions: A SPECT study in frontotemporal dementia.
Journal of the neurological sciences 2008;273(1-2):84-7.
2008: Troiano A R; Cazeneuve C; Le Ber I; Bonnet A-M; Lesage S; Brice A
Re: Alpha-synuclein gene duplication is present in sporadic Parkinson disease.
Neurology 2008;71(16):1295; author reply 1295.
2008: Healy Daniel G; Falchi Mario; O'Sullivan Sean S; Bonifati Vincenzo; Durr Alexandra; Bressman Susan; Brice Alexis; Aasly Jan; Zabetian Cyrus P; Goldwurm Stefano; Ferreira Joaquim J; Tolosa Eduardo; Kay Denise M; Klein Christine; Williams David R; Marras Connie; Lang Anthony E; Wszolek Zbigniew K; Berciano Jose; Schapira Anthony H V; Lynch Timothy; Bhatia Kailash P; Gasser Thomas; Lees Andrew J; Wood Nicholas W;
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.
Lancet neurology 2008;7(7):583-90.
2008: Rovelet-Lecrux Anne; Deramecourt Vincent; Legallic Solenn; Maurage Claude-Alain; Le Ber Isabelle; Brice Alexis; Lambert Jean-Charles; Frébourg Thierry; Hannequin Didier; Pasquier Florence; Campion Dominique
Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease.
Neurobiology of disease 2008;31(1):41-5.
2008: Stevanin Giovanni; Ruberg Merle; Brice Alexis
Recent advances in the genetics of spastic paraplegias.
Current neurology and neuroscience reports 2008;8(3):198-210.
2008: du Montcel Sophie Tezenas; Charles Perrine; Ribai Pascale; Goizet Cyril; Le Bayon Alice; Labauge Pierre; Guyant-Maréchal Lucie; Forlani Sylvie; Jauffret Celine; Vandenberghe Nadia; N'guyen Karine; Le Ber Isabelle; Devos David; Vincitorio Carlo-Maria; Manto Mario-Ubaldo; Tison François; Hannequin Didier; Ruberg Merle; Brice Alexis; Durr Alexandra
Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment.
Brain : a journal of neurology 2008;131(Pt 5):1352-61.
2008: Frédéric M Y; Clot F; Cif L; Blanchard A; Dürr A; Vuillaume I; Lesca G; Kreisler A; Davin C; Besnard T; Rousset F; Thorel D; Saquet C; Mechin D; Ozelius L; Agid Y; Barroso B; Chabrol B; Chan V; Clanet M; Coubes C; Destee A; Nguyen K; Vial C; Vidailhet M; Xie J; Sablonniere B; Calender A; Brice A; Roubertie A; Coubes P; Claustres M; Tuffery-Giraud S; Collod-Beroud G
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?
Neurogenetics 2008;9(2):143-50.
2008: Anheim M; Chaigne D; Fleury M; Santorelli F M; De Sèze J; Durr A; Brice A; Koenig M; Tranchant C
[Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature]
Revue neurologique 2008;164(4):363-8.
2008: Hanein Sylvain; Martin Elodie; Boukhris Amir; Byrne Paula; Goizet Cyril; Hamri Abdelmadjid; Benomar Ali; Lossos Alexander; Denora Paola; Fernandez José; Elleuch Nizar; Forlani Sylvie; Durr Alexandra; Feki Imed; Hutchinson Michael; Santorelli Filippo M; Mhiri Chokri; Brice Alexis; Stevanin Giovanni
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.
American journal of human genetics 2008;82(4):992-1002.
2008: Lautier Corinne; Goldwurm Stefano; Dürr Alexandra; Giovannone Barbara; Tsiaras William G; Pezzoli Gianni; Brice Alexis; Smith Robert J
Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease.
American journal of human genetics 2008;82(4):822-33.
2008: Chapuis Julien; Hannequin Didier; Pasquier Florence; Bentham Peter; Brice Alexis; Leber Isabelle; Frebourg Thierry; Deleuze Jean-François; Cousin Emmanuelle; Thaker Uma; Amouyel Philippe; Mann David; Lendon Corinne; Campion Dominique; Lambert Jean-Charles
Association study of the GAB2 gene with the risk of developing Alzheimer's disease.
Neurobiology of disease 2008;30(1):103-6.
2008: Lohmann Ebba; Welter Marie-Laure; Fraix Valérie; Krack Paul; Lesage Suzanne; Laine Sophie; Tanguy Marie-Laure; Houeto Jean-Luc; Mesnage Valérie; Pollak Pierre; Durr Alexandra; Agid Yves; Brice Alexis;
Are parkin patients particularly suited for deep-brain stimulation?
Movement disorders : official journal of the Movement Disorder Society 2008;23(5):740-3.
2008: Roze E; Apartis E; Clot F; Dorison N; Thobois S; Guyant-Marechal L; Tranchant C; Damier P; Doummar D; Bahi-Buisson N; André-Obadia N; Maltete D; Echaniz-Laguna A; Pereon Y; Beaugendre Y; Dupont S; De Greslan T; Jedynak C P; Ponsot G; Dussaule J C; Brice A; Dürr A; Vidailhet M
Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations.
Neurology 2008;70(13):1010-6.
2008: Boukhris Amir; Stevanin Giovanni; Feki Imed; Denis Elodie; Elleuch Nizar; Miladi Mohamed Imed; Truchetto Jérémy; Denora Paola; Belal Samir; Mhiri Chokri; Brice Alexis
Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity.
Archives of neurology 2008;65(3):393-402.
2008: Le Ber Isabelle; Camuzat Agnès; Hannequin Didier; Pasquier Florence; Guedj Eric; Rovelet-Lecrux Anne; Hahn-Barma Valérie; van der Zee Julie; Clot Fabienne; Bakchine Serge; Puel Michèle; Ghanim Mustapha; Lacomblez Lucette; Mikol Jacqueline; Deramecourt Vincent; Lejeune Pascal; de la Sayette Vincent; Belliard Serge; Vercelletto Martine; Meyrignac Christian; Van Broeckhoven Christine; Lambert Jean-Charles; Verpillat Patrice; Campion Dominique; Habert Marie-Odile; Dubois Bruno; Brice Alexis;
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.
Brain : a journal of neurology 2008;131(Pt 3):732-46.
2008: Stevanin Giovanni; Azzedine Hamid; Denora Paola; Boukhris Amir; Tazir Meriem; Lossos Alexander; Rosa Alberto Luis; Lerer Israela; Hamri Abdelmadjid; Alegria Paulo; Loureiro José; Tada Masayoshi; Hannequin Didier; Anheim Mathieu; Goizet Cyril; Gonzalez-Martinez Victoria; Le Ber Isabelle; Forlani Sylvie; Iwabuchi Kiyoshi; Meiner Vardiela; Uyanik Goekhan; Erichsen Anne Kjersti; Feki Imed; Pasquier Florence; Belarbi Soreya; Cruz Vitor T; Depienne Christel; Truchetto Jeremy; Garrigues Guillaume; Tallaksen Chantal; Tranchant Christine; Nishizawa Masatoyo; Vale José; Coutinho Paula; Santorelli Filippo M; Mhiri Chokri; Brice Alexis; Durr Alexandra;
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Brain : a journal of neurology 2008;131(Pt 3):772-84.
2008: Lesage Suzanne; Lohmann Ebba; Tison François; Durif Franck; Dürr Alexandra; Brice Alexis
Gene symbol: PARK2. Disease: Parkinsonism, juvenile, autosomal recessive.
Human genetics 2008;123(1):114.
2008: Lesage Suzanne; Lohmann Ebba; Tison François; Durif Franck; Dürr Alexandra; Brice Alexis
Gene symbol: PARK2. Disease: Parkinsonism, juvenile, autosomal recessive.
Human genetics 2008;123(1):114.
2008: Boukhris Amir; Feki Imed; Denis Elodie; Miladi Mohamed Imed; Brice Alexis; Mhiri Chokri; Stevanin Giovanni
Spastic paraplegia 15: linkage and clinical description of three Tunisian families.
Movement disorders : official journal of the Movement Disorder Society 2008;23(3):429-33.
2008: Van Humbeeck Cindy; Waelkens Etienne; Corti Olga; Brice Alexis; Vandenberghe Wim
Parkin occurs in a stable, non-covalent, approximately 110-kDa complex in brain.
The European journal of neuroscience 2008;27(2):284-93.
2008: Ribaï Pascale; Depienne Christel; Fedirko Estelle; Jothy Anne-Catherine; Viveweger Caterine; Hahn-Barma Valérie; Brice Alexis; Durr Alexandra
Mental deficiency in three families with SPG4 spastic paraplegia.
European journal of human genetics : EJHG 2008;16(1):97-104.
2008: Lesage S; Lohmann E; Tison F; Durif F; Dürr A; Brice A;
Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls.
Journal of medical genetics 2008;45(1):43-6.
2008: Erichsen A K; Stevanin G; Denora P; Brice A; Tallaksen C M E
SPG11--the most common type of recessive spastic paraplegia in Norway?
Acta neurologica Scandinavica. Supplementum 2008;188():46-50.
2008: Stevanin Giovanni; Brice Alexis
Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).
Cerebellum (London, England) 2008;7(2):170-8.
2007: Depienne Christel; Stevanin Giovanni; Brice Alexis; Durr Alexandra
Hereditary spastic paraplegias: an update.
Current opinion in neurology 2007;20(6):674-80.
2007: Elleuch Nizar; Bouslam Naima; Hanein Sylvain; Lossos Alexander; Hamri Abdelmadjid; Klebe Stephan; Meiner Vardiella; Birouk Nezha; Lerer Israela; Grid Djamel; Bacq Delphine; Tazir Meriem; Zelenika Diana; Argov Zohar; Durr Alexandra; Yahyaoui Mohamed; Benomar Ali; Brice Alexis; Stevanin Giovanni
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.
Neurogenetics 2007;8(4):307-15.
2007: Hanein Sylvain; Dürr Alexandra; Ribai Pascale; Forlani Sylvie; Leutenegger Anne-Louise; Nelson Isabelle; Babron Marie-Claude; Elleuch Nizar; Depienne Christel; Charon Céline; Brice Alexis; Stevanin Giovanni
A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.
Human genetics 2007;122(3-4):261-73.
2007: Charles P; Camuzat A; Benammar N; Sellal F; Destée A; Bonnet A-M; Lesage S; Le Ber I; Stevanin G; Dürr A; Brice A;
Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?
Neurology 2007;69(21):1970-5.
2007: Martins Sandra; Calafell Francesc; Gaspar Claudia; Wong Virginia C N; Silveira Isabel; Nicholson Garth A; Brunt Ewout R; Tranebjaerg Lisbeth; Stevanin Giovanni; Hsieh Mingli; Soong Bing-Wen; Loureiro Leal; Dürr Alexandra; Tsuji Shoji; Watanabe Mitsunori; Jardim Laura B; Giunti Paola; Riess Olaf; Ranum Laura P W; Brice Alexis; Rouleau Guy A; Coutinho Paula; Amorim António; Sequeiros Jorge
Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.
Archives of neurology 2007;64(10):1502-8.
2007: Klebe Stephan; Durr Alexandra; Bouslam Naima; Grid Djamel; Paternotte Caroline; Depienne Christel; Hanein Sylvain; Bouhouche Ahmed; Elleuch Nizar; Azzedine Hamid; Poea-Guyon Sandrine; Forlani Sylvie; Denis Elodie; Charon Céline; Hazan Jamile; Brice Alexis; Stevanin Giovanni
Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007;144B(7):854-61.
2007: Le Ber Isabelle; van der Zee Julie; Hannequin Didier; Gijselinck Ilse; Campion Dominique; Puel Michèle; Laquerrière Annie; De Pooter Tim; Camuzat Agnès; Van den Broeck Marleen; Dubois Bruno; Sellal François; Lacomblez Lucette; Vercelletto Martine; Thomas-Antérion Catherine; Michel Bernard-François; Golfier Véronique; Didic Mira; Salachas François; Duyckaerts Charles; Cruts Marc; Verpillat Patrice; Van Broeckhoven Christine; Brice Alexis;
Progranulin null mutations in both sporadic and familial frontotemporal dementia.
Human mutation 2007;28(9):846-55.
2007: Depienne Christel; Fedirko Estelle; Faucheux Jean-Marc; Forlani Sylvie; Bricka Bernard; Goizet Cyril; Lesourd Sylvie; Stevanin Giovanni; Ruberg Merle; Durr Alexandra; Brice Alexis
A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP.
Neurogenetics 2007;8(3):231-3.
2007: Joch Monica; Ase Ariel R; Chen Carol X-Q; MacDonald Penny A; Kontogiannea Maria; Corera Amadou T; Brice Alexis; Séguéla Philippe; Fon Edward A
Parkin-mediated monoubiquitination of the PDZ protein PICK1 regulates the activity of acid-sensing ion channels.
Molecular biology of the cell 2007;18(8):3105-18.
2007: Guedj E; Le Ber I; Lacomblez L; Dubois B; Verpillat P; Didic M; Salachas F; Vera P; Hannequin D; Lotterie J-A; Puel M; Decousus M; Thomas-Antérion C; Magne C; Vercelletto M; Bernard A-M; Golfier V; Pasquier J; Michel B-F; Namer I; Sellal F; Bochet J; Volteau M; Brice A; Meininger V; Habert M-O
Brain spect perfusion of frontotemporal dementia associated with motor neuron disease.
Neurology 2007;69(5):488-90.
2007: Gourfinkel-An I; Duyckaerts C; Camuzat A; Meyrignac C; Sonderegger P; Baulac M; Brice A
Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene.
Neurology 2007;69(1):79-83.
2007: Depienne C; Heron D; Betancur C; Benyahia B; Trouillard O; Bouteiller D; Verloes A; LeGuern E; Leboyer M; Brice A
Autism, language delay and mental retardation in a patient with 7q11 duplication.
Journal of medical genetics 2007;44(7):452-8.
2007: Baba Y; Baker M C; Le Ber I; Brice A; Maeck L; Kohlhase J; Yasuda M; Stoppe G; Bugiani O; Sperfeld A D; Tsuboi Y; Uitti R J; Farrer M J; Ghetti B; Hutton M L; Wszolek Z K
Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation.
Journal of neural transmission (Vienna, Austria : 1996) 2007;114(7):947-50.
2007: Klebe Stephan; Faivre Laurence; Forlani Sylvie; Dussert Christel; Tourbah Ayman; Brice Alexis; Stevanin Giovanni; Durr Alexandra
Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14.
Archives of neurology 2007;64(6):913-4.
2007: Ribaï Pascale; Nguyen Karine; Hahn-Barma Valérie; Gourfinkel-An Isabelle; Vidailhet Marie; Legout Antoine; Dodé Catherine; Brice Alexis; Dürr Alexandra
Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients.
Archives of neurology 2007;64(6):813-9.
2007: Gaillard N; Castelnovo G; Brice A; Labauge P
[Writer's cramp secondary to spinocerebellar ataxia type 7]
Revue neurologique 2007;163(5):589-91.
2007: Stevanin G; Paternotte C; Coutinho P; Klebe S; Elleuch N; Loureiro J L; Denis E; Cruz V T; Dürr A; Prud'homme J-F; Weissenbach J; Brice A; Hazan J
A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21.
Neurology 2007;68(21):1837-40.
2007: Clark Lorraine N; Haamer Eneli; Mejia-Santana Helen; Harris Juliette; Lesage Suzanne; Durr Alexandra; Bs Sabine Janin; Hedrich Katja; Louis Elan D; Cote Lucien J; Andrews Howard; Fahn Stanley; Waters Cheryl; Ford Blair; Frucht Steven; Scott William; Klein Christine; Brice Alexis; Roomere Hanno; Ottman Ruth; Marder Karen
Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.
Movement disorders : official journal of the Movement Disorder Society 2007;22(7):932-7.
2007: Namekawa M; Muriel M-P; Janer A; Latouche M; Dauphin A; Debeir T; Martin E; Duyckaerts C; Prigent A; Depienne C; Sittler A; Brice A; Ruberg M
Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis.
Molecular and cellular neurosciences 2007;35(1):1-13.
2007: Bouslam Naima; Bouhouche Ahmed; Benomar Ali; Hanein Sylvain; Klebe Stephan; Azzedine Hamid; Di Giandomenico Silvia; Boland-Augé Anne; Santorelli Filippo M; Durr Alexandra; Brice Alexis; Yahyaoui Mohamed; Stevanin Giovanni
A novel locus for autosomal recessive spastic ataxia on chromosome 17p.
Human genetics 2007;121(3-4):413-20.
2007: Feki I; Miladi M I; Elleuch N; Boukhris A; Stévanin G; Brice A; Mhiri C
[Familial spastic paraplegia with severe amyotrophy of the hands. (Silver syndrome?)]
Revue neurologique 2007;163(4):476-9.
2007: Ribaï Pascale; Pousset Françoise; Tanguy Marie-Laure; Rivaud-Pechoux Sophie; Le Ber Isabelle; Gasparini Franchesca; Charles Perrine; Béraud Anne-Sophie; Schmitt Michele; Koenig Michel; Mallet Alain; Brice Alexis; Dürr Alexandra
Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up.
Archives of neurology 2007;64(4):558-64.
2007: van der Zee Julie; Le Ber Isabelle; Maurer-Stroh Sebastian; Engelborghs Sebastiaan; Gijselinck Ilse; Camuzat Agnès; Brouwers Nathalie; Vandenberghe Rik; Sleegers Kristel; Hannequin Didier; Dermaut Bart; Schymkowitz Joost; Campion Dominique; Santens Patrick; Martin Jean-Jacques; Lacomblez Lucette; De Pooter Tim; Peeters Karin; Mattheijssens Maria; Vercelletto Martine; Van den Broeck Marleen; Cruts Marc; De Deyn Peter P; Rousseau Frederic; Brice Alexis; Van Broeckhoven Christine
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.
Human mutation 2007;28(4):416.
2007: Cagnoli Claudia; Brussino Alessandro; Di Gregorio Eleonora; Brusco Alfredo; Stevanin Giovanni; Durr Alexandra; Brice Alexis
The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients.
Movement disorders : official journal of the Movement Disorder Society 2007;22(5):752-3.
2007: Grünewald Anne; Breedveld Guido J; Lohmann-Hedrich Katja; Rohé Christan F; König Inke R; Hagenah Johann; Vanacore Nicola; Meco Giuseppe; Antonini Angelo; Goldwurm Stefano; Lesage Suzanne; Dürr Alexandra; Binkofski Ferdinand; Siebner Hartwig; Münchau Alexander; Brice Alexis; Oostra Ben A; Klein Christine; Bonifati Vincenzo
Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.
Neurogenetics 2007;8(2):103-9.
2007: Klebe Stephan; Lacour Arnaud; Durr Alexandra; Stojkovic Tanya; Depienne Christel; Forlani Sylvie; Poea-Guyon Sandrine; Vuillaume Isabelle; Sablonniere Bernard; Vermersch Patrick; Brice Alexis; Stevanin Giovanni
NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe.
Neurogenetics 2007;8(2):155-7.
2007: Depienne Christel; Fedirko Estelle; Forlani Sylvie; Cazeneuve Cécile; Ribaï Pascale; Feki Imed; Tallaksen Chantal; Nguyen Karine; Stankoff Bruno; Ruberg Merle; Stevanin Giovanni; Durr Alexandra; Brice Alexis
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.
Journal of medical genetics 2007;44(4):281-4.
2007: Lesage Suzanne; Janin Sabine; Lohmann Ebba; Leutenegger Anne-Louise; Leclere Laurence; Viallet François; Pollak Pierre; Durif Franck; Thobois Stéphane; Layet Valérie; Vidailhet Marie; Agid Yves; Dürr Alexandra; Brice Alexis; Bonnet Anne-Marie; Borg Michel; Broussolle Emmanuel; Damier Philippe; Destée Alain; Martinez Maria; Penet Christiane; Rasco Olivier; Tison François; Tranchan Christine; Vérin Marc
LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.
Archives of neurology 2007;64(3):425-30.
2007: Latouche Morwena; Lasbleiz Christelle; Martin Elodie; Monnier Véronique; Debeir Thomas; Mouatt-Prigent Annick; Muriel Marie-Paule; Morel Lydie; Ruberg Merle; Brice Alexis; Stevanin Giovanni; Tricoire Hérvé
A conditional pan-neuronal Drosophila model of spinocerebellar ataxia 7 with a reversible adult phenotype suitable for identifying modifier genes.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2007;27(10):2483-92.
2007: Stevanin Giovanni; Santorelli Filippo M; Azzedine Hamid; Coutinho Paula; Chomilier Jacques; Denora Paola S; Martin Elodie; Ouvrard-Hernandez Anne-Marie; Tessa Alessandra; Bouslam Naïma; Lossos Alexander; Charles Perrine; Loureiro José L; Elleuch Nizar; Confavreux Christian; Cruz Vítor T; Ruberg Merle; Leguern Eric; Grid Djamel; Tazir Meriem; Fontaine Bertrand; Filla Alessandro; Bertini Enrico; Durr Alexandra; Brice Alexis
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
Nature genetics 2007;39(3):366-72.
2007: Lesage S; Dürr A; Brice A
LRRK2: a link between familial and sporadic Parkinson's disease?
Pathologie-biologie 2007;55(2):107-10.
2007: Guyant-Maréchal L; Rovelet-Lecrux A; Goumidi L; Cousin E; Hannequin D; Raux G; Penet C; Ricard S; Macé S; Amouyel P; Deleuze J-F; Frebourg T; Brice A; Lambert J-C; Campion D
Variations in the APP gene promoter region and risk of Alzheimer disease.
Neurology 2007;68(9):684-7.
2007: Huynh Duong P; Nguyen Dung T; Pulst-Korenberg Johannes B; Brice Alexis; Pulst Stefan-M
Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell death.
Experimental neurology 2007;203(2):531-41.
2007: Le Ber I; Dubourg O; Benoist J-F; Jardel C; Mochel F; Koenig M; Brice A; Lombès A; Dürr A
Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1.
Neurology 2007;68(4):295-7.
2007: Schüpbach Michael; Lohmann Ebba; Anheim Mathieu; Lesage Suzanne; Czernecki Virginie; Yaici Sadek; Worbe Yulia; Charles Perrine; Welter Marie-Laure; Pollak Pierre; Dürr Alexandra; Agid Yves; Brice Alexis
Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations.
Movement disorders : official journal of the Movement Disorder Society 2007;22(1):119-22.
2007: Lesage Suzanne; Magali Periquet; Lohmann Ebba; Lacomblez Lucette; Teive Helio; Janin Sabine; Cousin Pierre-Yves; Dürr Alexandra; Brice Alexis;
Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism.
Human mutation 2007;28(1):27-32.
2007: Lesage Suzanne; Leclere Laurence; Lohmann Ebba; Borg Michel; Ruberg Merle; Dürr Alexandra; Brice Alexis;
Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease.
Neuro-degenerative diseases 2007;4(2-3):195-8.
2006: Pineda-Trujillo Nicolas; Apergi Maria; Moreno Sonia; Arias William; Lesage Suzanne; Franco Alejandro; Sepulveda-Falla Diego; Cano David; Buriticá Omar; Pineda David; Uribe Carlos Santiago; de Yebenes Justo Garcia; Lees Andrew J; Brice Alexis; Bedoya Gabriel; Lopera Francisco; Ruiz-Linares Andres
A genetic cluster of early onset Parkinson's disease in a Colombian population.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2006;141B(8):885-9.
2006: Le Ber I; Clot F; Vercueil L; Camuzat A; Viémont M; Benamar N; De Liège P; Ouvrard-Hernandez A M; Pollak P; Stevanin G; Brice A; Dürr A
Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia.
Neurology 2006;67(10):1769-73.
2006: Le Ber Isabelle; Guedj Eric; Gabelle Audrey; Verpillat Patrice; Volteau Magali; Thomas-Anterion Catherine; Decousus Marielle; Hannequin Didier; Véra Pierre; Lacomblez Lucette; Camuzat Agnès; Didic Mira; Puel Michèle; Lotterie Jean-Albert; Golfier Véronique; Bernard Anne-Marie; Vercelletto Martine; Magne Christine; Sellal François; Namer Izzie; Michel Bernard-François; Pasquier Jacques; Salachas François; Bochet Jean; Brice Alexis; Habert Marie-Odile; Dubois Bruno
Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia.
Brain : a journal of neurology 2006;129(Pt 11):3051-65.
2006: Leutenegger Anne-Louise; Salih Mustafa A M; Ibáñez Pablo; Mukhtar Maowia M; Lesage Suzanne; Arabi Ali; Lohmann Ebba; Dürr Alexandra; Ahmed Ammar E M; Brice Alexis
Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1.
Archives of neurology 2006;63(9):1257-61.
2006: Ishihara Lianna; Warren Liling; Gibson Rachel; Amouri Rim; Lesage Suzanne; Dürr Alexandra; Tazir Meriem; Wszolek Zbigniew K; Uitti Ryan J; Nichols William C; Griffith Alida; Hattori Nobutaka; Leppert David; Watts Ray; Zabetian Cyrus P; Foroud Tatiana M; Farrer Matthew J; Brice Alexis; Middleton Lefkos; Hentati Faycal
Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations.
Archives of neurology 2006;63(9):1250-4.
2006: Azzedine H; Ravisé N; Verny C; Gabrëels-Festen A; Lammens M; Grid D; Vallat J M; Durosier G; Senderek J; Nouioua S; Hamadouche T; Bouhouche A; Guilbot A; Stendel C; Ruberg M; Brice A; Birouk N; Dubourg O; Tazir M; LeGuern E
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.
Neurology 2006;67(4):602-6.
2006: Soufir N; Gerard B; Portela M; Brice A; Liboutet M; Saiag P; Descamps V; Kerob D; Wolkenstein P; Gorin I; Lebbe C; Dupin N; Crickx B; Basset-Seguin N; Grandchamp B
PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study.
British journal of cancer 2006;95(4):548-53.
2006: Fallon Lara; Bélanger Catherine M L; Corera Amadou T; Kontogiannea Maria; Regan-Klapisz Elsa; Moreau France; Voortman Jarno; Haber Michael; Rouleau Geneviève; Thorarinsdottir Thorhildur; Brice Alexis; van Bergen En Henegouwen Paul M P; Fon Edward A
A regulated interaction with the UIM protein Eps15 implicates parkin in EGF receptor trafficking and PI(3)K-Akt signalling.
Nature cell biology 2006;8(8):834-42.
2006: Janer Alexandre; Martin Elodie; Muriel Marie-Paule; Latouche Morwena; Fujigasaki Hiroto; Ruberg Merle; Brice Alexis; Trottier Yvon; Sittler Annie
PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins.
The Journal of cell biology 2006;174(1):65-76.
2006: Hampe Cornelia; Ardila-Osorio Hector; Fournier Margot; Brice Alexis; Corti Olga
Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity.
Human molecular genetics 2006;15(13):2059-75.
2006: Stevanin Giovanni; Montagna Giorgia; Azzedine Hamid; Valente Enza Maria; Durr Alexandra; Scarano Valentina; Bouslam Naima; Cassandrini Denise; Denora Paola S; Criscuolo Chiara; Belarbi Soraya; Orlacchio Antonio; Jonveaux Philippe; Silvestri Gabriella; Hernandez Anne Marie Ouvrad; De Michele Giuseppe; Tazir Meriem; Mariotti Caterina; Brockmann Knut; Malandrini Alessandro; van der Knapp Marjo S; Neri Marcella; Tonekaboni Hassan; Melone Mariarosa A B; Tessa Alessandra; Dotti M Teresa; Tosetti Michela; Pauri Flavia; Federico Antonio; Casali Carlo; Cruz Vitor T; Loureiro José L; Zara Federico; Forlani Sylvie; Bertini Enrico; Coutinho Paula; Filla Alessandro; Brice Alexis; Santorelli Filippo M
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.
Neurogenetics 2006;7(3):149-56.
2006: Sharma M; Mueller J C; Zimprich A; Lichtner P; Hofer A; Leitner P; Maass S; Berg D; Dürr A; Bonifati V; De Michele G; Oostra B; Brice A; Wood N W; Muller-Myhsok B; Gasser T;
The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations.
Journal of medical genetics 2006;43(7):557-62.
2006: Dubourg O; Azzedine H; Yaou R Ben; Pouget J; Barois A; Meininger V; Bouteiller D; Ruberg M; Brice A; LeGuern E
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.
Neurology 2006;66(11):1721-6.
2006: Ribai Pascale; Stevanin Giovanni; Bouslam Naima; Pontier Bénédicte; Nelson Isabelle; Fontaine Bertrand; Dussert Christel; Charon Céline; Durr Alexandra; Brice Alexis
A new phenotype linked to SPG27 and refinement of the critical region on chromosome.
Journal of neurology 2006;253(6):714-9.
2006: Klebe Stephan; Azzedine Hamid; Durr Alexandra; Bastien Patrick; Bouslam Naima; Elleuch Nizar; Forlani Sylvie; Charon Celine; Koenig Michel; Melki Judith; Brice Alexis; Stevanin Giovanni
Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.
Brain : a journal of neurology 2006;129(Pt 6):1456-62.
2006: Lesage Suzanne; Dürr Alexandra; Brice Alexis
[LRRK2 is a major gene in North African parkinsonism]
Médecine sciences : M/S 2006;22(5):470-1.
2006: Lossos Alexander; Stevanin Giovanni; Meiner Vardiella; Argov Zohar; Bouslam Naima; Newman J P; Gomori John M; Klebe Stephan; Lerer Israela; Elleuch Nizar; Silverstein Shira; Durr Alexandra; Abramsky Oded; Ben-Nariah Ziva; Brice Alexis
Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity.
Archives of neurology 2006;63(5):756-60.
2006: Namekawa Michito; Nelson Isabelle; Ribai Pascale; Dürr Alexandra; Denis Elodie; Stevanin Giovanni; Ruberg Merle; Brice Alexis
A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene.
Neurogenetics 2006;7(2):131-2.
2006: Tezenas du Montcel S; Clot F; Vidailhet M; Roze E; Damier P; Jedynak C P; Camuzat A; Lagueny A; Vercueil L; Doummar D; Guyant-Maréchal L; Houeto J-L; Ponsot G; Thobois S; Cournelle M-A; Durr A; Durif F; Echenne B; Hannequin D; Tranchant C; Brice A;
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.
Journal of medical genetics 2006;43(5):394-400.
2006: Waters Michael F; Minassian Natali A; Stevanin Giovanni; Figueroa Karla P; Bannister John P A; Nolte Dagmar; Mock Allan F; Evidente Virgilio Gerald H; Fee Dominic B; Müller Ulrich; Dürr Alexandra; Brice Alexis; Papazian Diane M; Pulst Stefan M
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.
Nature genetics 2006;38(4):447-51.
2006: Unschuld P G; Dächsel J; Darios F; Kohlmann A; Casademunt E; Lehmann-Horn K; Dichgans M; Ruberg M; Brice A; Gasser T; Lücking C B
Parkin modulates gene expression in control and ceramide-treated PC12 cells.
Molecular biology reports 2006;33(1):13-32.
2006: Elleuch N; Depienne C; Benomar A; Hernandez A M Ouvrard; Ferrer X; Fontaine B; Grid D; Tallaksen C M E; Zemmouri R; Stevanin G; Durr A; Brice A
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
Neurology 2006;66(5):654-9.
2006: De Rosa Anna; Volpe Giampiero; Marcantonio Lucia; Santoro Lucio; Brice Alexis; Filla Alessandro; Perretti Anna; De Michele Giuseppe
Neurophysiological evidence of corticospinal tract abnormality in patients with Parkin mutations.
Journal of neurology 2006;253(3):275-9.
2006: Ibáñez Pablo; Lesage Suzanne; Lohmann Ebba; Thobois Stéphane; De Michele Giuseppe; Borg Michel; Agid Yves; Dürr Alexandra; Brice Alexis;
Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa.
Brain : a journal of neurology 2006;129(Pt 3):686-94.
2006: Latouche Morwena; Fragner Pascal; Martin Elodie; El Hachimi Khalid H; Zander Cecilia; Sittler Annie; Ruberg Merle; Brice Alexis; Stevanin Giovanni
Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicity.
Molecular and cellular neurosciences 2006;31(3):438-45.
2006: Depienne C; Tallaksen C; Lephay J Y; Bricka B; Poea-Guyon S; Fontaine B; Labauge P; Brice A; Durr A
Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.
Journal of medical genetics 2006;43(3):259-65.
2006: Depienne C; Tallaksen C; Lephay J Y; Bricka B; Poea-Guyon S; Fontaine B; Brice A; Durr A
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hs0516.
Human genetics 2006;118(6):785.
2006: Depienne C; Tallaksen C; Lephay J Y; Bricka B; Poea-Guyon S; Fontaine B; Labauge P; Brice A; Durr A
Gene symbol: SPAST. Disease: spastic paraparesis. Accession #Hs0515.
Human genetics 2006;118(6):785.
2006: Depienne C; Tallaksen C; Lephay J Y; Bricka B; Poea-Guyon S; Fontaine B; Labauge P; Brice A; Durr A
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0557.
Human genetics 2006;118(6):783.
2006: Depienne C; Tallaksen C; Lephay J Y; Bricka B; Poea-Guyon S; Fontaine B; Labauge P; Brice A; Durr A
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0556.
Human genetics 2006;118(6):782.
2006: Depienne C; Tallaksen C; Lephay J Y; Bricka B; Poea-Guyon S; Fontaine B; Brice A; Durr A
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0555.
Human genetics 2006;118(6):782.
2006: Depienne C; Tallaksen C; Lephay J Y; Bricka B; Poea-Guyon S; Fontaine B; Labauge P; Brice A; Durr A
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0554.
Human genetics 2006;118(6):782.
2006: Depienne C; Tallaksen C; Lephay J Y; Bricka B; Poea-Guyon S; Fontaine B; Labauge P; Brice A; Durr A
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0553.
Human genetics 2006;118(6):782.
2006: Depienne C; Tallaksen C; Lephay J Y; Bricka B; Poea-Guyon S; Fontaine B; Labauge P; Brice A; Durr A
Gene symbol: SPAST (SPG4). Disease: Spastic paraparesis. Accession #Hm0552.
Human genetics 2006;118(6):781.
2006: Depienne C; Tallaksen C; Lephay J Y; Bricka B; Poea-Guyon S; Fontaine B; Labauge P; Brice A; Durr A
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hd0519.
Human genetics 2006;118(6):776.
2006: Brice Alexis
[What can we learn from genes responsible for familial forms of Parkinson's disease?]
Bulletin de l'Académie nationale de médecine 2006;190(2):485-96; discussion 497-8.
2006: Le Ber I; Rivaud-Péchoux S; Brice A; Dürr A
[Autosomal recessive cerebellar ataxias with oculomotor apraxia]
Revue neurologique 2006;162(2):177-84.
2006: Cagnoli Claudia; Stevanin Giovanni; Michielotto Chiara; Gerbino Promis Giovanni; Brussino Alessandro; Pappi Patrizia; Durr Alexandra; Dragone Elisa; Viemont Michelle; Gellera Cinzia; Brice Alexis; Migone Nicola; Brusco Alfredo
Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay.
The Journal of molecular diagnostics : JMD 2006;8(1):128-32.
2006: Ikeda Yoshio; Dick Katherine A; Weatherspoon Marcy R; Gincel Dan; Armbrust Karen R; Dalton Joline C; Stevanin Giovanni; Dürr Alexandra; Zühlke Christine; Bürk Katrin; Clark H Brent; Brice Alexis; Rothstein Jeffrey D; Schut Lawrence J; Day John W; Ranum Laura P W
Spectrin mutations cause spinocerebellar ataxia type 5.
Nature genetics 2006;38(2):184-90.
2006: Lesage Suzanne; Dürr Alexandra; Tazir Meriem; Lohmann Ebba; Leutenegger Anne-Louise; Janin Sabine; Pollak Pierre; Brice Alexis;
LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs.
The New England journal of medicine 2006;354(4):422-3.
2006: Namekawa M; Ribai P; Nelson I; Forlani S; Fellmann F; Goizet C; Depienne C; Stevanin G; Ruberg M; Dürr A; Brice A
SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.
Neurology 2006;66(1):112-4.
2006: Rovelet-Lecrux Anne; Hannequin Didier; Raux Gregory; Le Meur Nathalie; Laquerrière Annie; Vital Anne; Dumanchin Cécile; Feuillette Sébastien; Brice Alexis; Vercelletto Martine; Dubas Frédéric; Frebourg Thierry; Campion Dominique
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.
Nature genetics 2006;38(1):24-6.
2006: Dubourg O; Azzedine H; Verny C; Durosier G; Birouk N; Gouider R; Salih M; Bouhouche A; Thiam A; Grid D; Mayer M; Ruberg M; Tazir M; Brice A; LeGuern E
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.
Neuromolecular medicine 2006;8(1-2):75-86.
2005: Lesage Suzanne; Leutenegger Anne-Louise; Brice Alexis
[LRRK2: a gene belonging to the ROCO family is implicated in the Parkinson's disease]
Médecine sciences : M/S 2005;21(12):1015-7.
2005: Brice Alexis
Genetics of Parkinson's disease: LRRK2 on the rise.
Brain : a journal of neurology 2005;128(Pt 12):2760-2.
2005: Periquet Magali; Corti Olga; Jacquier Sandrine; Brice Alexis
Proteomic analysis of parkin knockout mice: alterations in energy metabolism, protein handling and synaptic function.
Journal of neurochemistry 2005;95(5):1259-76.
2005: Lesage Suzanne; Ibanez Pablo; Lohmann Ebba; Pollak Pierre; Tison François; Tazir Myriem; Leutenegger Anne-Louise; Guimaraes Joao; Bonnet Anne-Marie; Agid Yves; Dürr Alexandra; Brice Alexis;
G2019S LRRK2 mutation in French and North African families with Parkinson's disease.
Annals of neurology 2005;58(5):784-7.
2005: Klebe Stephan; Durr Alexandra; Rentschler Alexander; Hahn-Barma Valerie; Abele Michael; Bouslam Naima; Schöls Ludger; Jedynak Pierre; Forlani Sylvie; Denis Elodie; Dussert Christel; Agid Yves; Bauer Peter; Globas Christoph; Wüllner Ullrich; Brice Alexis; Riess Olaf; Stevanin Giovanni
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.
Annals of neurology 2005;58(5):720-9.
2005: Raux G; Guyant-Maréchal L; Martin C; Bou J; Penet C; Brice A; Hannequin D; Frebourg T; Campion D
Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.
Journal of medical genetics 2005;42(10):793-5.
2005: Le Ber Isabelle; Brice Alexis; Dürr Alexandra
New autosomal recessive cerebellar ataxias with oculomotor apraxia.
Current neurology and neuroscience reports 2005;5(5):411-7.
2005: Lesage Suzanne; Leutenegger Anne-Louise; Ibanez Pablo; Janin Sabine; Lohmann Ebba; Dürr Alexandra; Brice Alexis;
LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century.
American journal of human genetics 2005;77(2):330-2.
2005: Dächsel J C; Lücking C B; Deeg S; Schultz E; Lalowski M; Casademunt E; Corti O; Hampe C; Patenge N; Vaupel K; Yamamoto A; Dichgans M; Brice A; Wanker E E; Kahle P J; Gasser T
Parkin interacts with the proteasome subunit alpha4.
FEBS letters 2005;579(18):3913-9.
2005: Naïmi Mourad; Tardieu Sandrine; Depienne Christel; Ruberg Merle; Brice Alexis; Dubourg Odile; Leguern Eric
Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements.
American journal of medical genetics. Part A 2005;136(2):136-9.
2005: Martinez Maria; Brice Alexis; Vaughan Jenny R; Zimprich Alexander; Breteler Monique M B; Meco Giuseppe; Filla Alessandro; Farrer Matthew J; Bétard Christine; Singleton Andrew; Hardy John; De Michele Giuseppe; Bonifati Vincenzo; Oostra Ben A; Gasser Thomas; Wood Nick W; Dürr Alexandra
Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2005;136B(1):72-4.
2005: Biancalana Valérie; Toft Mathias; Le Ber Isabelle; Tison François; Scherrer Elisabeth; Thibodeau Stephen; Mandel Jean Louis; Brice Alexis; Farrer Matthew J; Dürr Alexandra
FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy.
Archives of neurology 2005;62(6):962-6.
2005: Baba Yasuhiko; Tsuboi Yoshio; Baker Matthew C; Uitti Ryan J; Hutton Michael L; Dickson Dennis W; Farrer Matthew; Putzke John D; Woodruff Bryan K; Ghetti Bernardino; Murrell Jill R; Boeve Bradley F; Petersen Ronald C; Verpillat Patrice; Brice Alexis; Delisle Marie-Bernadette; Rascol Oliver; Arima Kunimasa; Dysken Maurice W; Yasuda Minoru; Kobayashi Tomonori; Sunohara Nobuhiko; Komure Osamu; Kuno Sadako; Sperfeld Anne D; Stoppe Gabriela; Kohlhase Jürgen; Pickering-Brown Stuart; Neary David; Bugiani Orso; Wszolek Zbigniew K
The effect of tau genotype on clinical features in FTDP-17.
Parkinsonism & related disorders 2005;11(4):205-8.
2005: Darios Frédéric; Muriel Marie-Paule; Khondiker Myriam Escobar; Brice Alexis; Ruberg Merle
Neurotoxic calcium transfer from endoplasmic reticulum to mitochondria is regulated by cyclin-dependent kinase 5-dependent phosphorylation of tau.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2005;25(16):4159-68.
2005: Bouslam Naima; Benomar Ali; Azzedine Hamid; Bouhouche Ahmed; Namekawa Michito; Klebe Stephan; Charon Céline; Durr Alexandra; Ruberg Merle; Brice Alexis; Yahyaoui Mohamed; Stevanin Giovanni
Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).
Annals of neurology 2005;57(4):567-71.
2005: van de Warrenburg Bart P C; Hendriks Harrie; Dürr Alexandra; van Zuijlen Martin C A; Stevanin Giovanni; Camuzat Agnès; Sinke Richard J; Brice Alexis; Kremer Berry P H
Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort.
Annals of neurology 2005;57(4):505-12.
2005: Colin Emilie; Régulier Etienne; Perrin Valérie; Dürr Alexandra; Brice Alexis; Aebischer Patrick; Déglon Nicole; Humbert Sandrine; Saudou Frédéric
Akt is altered in an animal model of Huntington's disease and in patients.
The European journal of neuroscience 2005;21(6):1478-88.
2005: Ochsner F; Le Ber I; Said G; Moreira M-C; Michel P; Koenig M; Dürr A; Brice A; Kuntzer T
[Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia]
Revue neurologique 2005;161(3):331-6.
2005: Corti Olga; Hampe Cornelia; Darios Frédéric; Ibanez Pablo; Ruberg Merle; Brice Alexis
Parkinson's disease: from causes to mechanisms.
Comptes rendus biologies 2005;328(2):131-42.
2005: Macé Sandrine; Cousin Emmanuelle; Ricard Sylvain; Génin Emmanuelle; Spanakis Emmanuel; Lafargue-Soubigou Carole; Génin Bérengère; Fournel Raphaël; Roche Sandrine; Haussy Gilles; Massey Florence; Soubigou Stéphane; Bréfort Georges; Benoit Patrick; Brice Alexis; Campion Dominique; Hollis Melvyn; Pradier Laurent; Benavides Jésus; Deleuze Jean-François
ABCA2 is a strong genetic risk factor for early-onset Alzheimer's disease.
Neurobiology of disease 2005;18(1):119-25.
2005: Prestel Jürgen; Sharma Manu; Leitner Petra; Zimprich Alexander; Vaughan Jenny R; Dürr Alexandra; Bonifati Vincenzo; De Michele Giuseppe; Hanagasi Hasmet A; Farrer Matthew; Hofer Anne; Asmus Friedrich; Volpe Giampiero; Meco Giuseppe; Brice Alexis; Wood Nicholas W; Müller-Myhsok Bertram; Gasser Thomas;
PARK11 is not linked with Parkinson's disease in European families.
European journal of human genetics : EJHG 2005;13(2):193-7.
2005: Brice Alexis
How much does dardarin contribute to Parkinson's disease?
Lancet 2005;365(9457):363-4.
2005: Stevanin Giovanni; Broussolle Emmanuel; Streichenberger Nathalie; Kopp Nicolas; Brice Alexis; Durr Alexandra
Spinocerebellar ataxia with sensory neuropathy (SCA25).
Cerebellum (London, England) 2005;4(1):58-61.
2005: Stevanin Giovanni; Durr Alexandra; Benammar Nawal; Brice Alexis
Spinocerebellar ataxia with mental retardation (SCA13).
Cerebellum (London, England) 2005;4(1):43-6.
2004: Varrone A; Pellecchia M T; Amboni M; Sansone V; Salvatore E; Ghezzi D; Garavaglia B; Brice A; Brunetti A; Bonavita V; De Michele G; Salvatore M; Pappatà S; Barone P
Imaging of dopaminergic dysfunction with [123I]FP-CIT SPECT in early-onset parkin disease.
Neurology 2004;63(11):2097-103.
2004: Dürr Alexandra; Camuzat Agnès; Colin Emilie; Tallaksen Chantal; Hannequin Didier; Coutinho Paula; Fontaine Bertrand; Rossi Annick; Gil Roger; Rousselle Christophe; Ruberg Merle; Stevanin Giovanni; Brice Alexis
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.
Archives of neurology 2004;61(12):1867-72.
2004: Martinez M; Brice A; Vaughan J R; Zimprich A; Breteler M M B; Meco G; Filla A; Farrer M J; Bétard C; Hardy J; De Michele G; Bonifati V; Oostra B; Gasser T; Wood N W; Dürr A;
Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease.
Journal of medical genetics 2004;41(12):900-7.
2004: Lo Bianco Christophe; Schneider Bernard L; Bauer Matthias; Sajadi Ali; Brice Alexis; Iwatsubo Takeshi; Aebischer Patrick
Lentiviral vector delivery of parkin prevents dopaminergic degeneration in an alpha-synuclein rat model of Parkinson's disease.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(50):17510-5.
2004: Abel Annette; Fonknechten Nuria; Hofer Anne; Dürr Alexandra; Cruaud Corinne; Voit Thomas; Weissenbach Jean; Brice Alexis; Klimpe Sven; Auburger Georg; Hazan Jamilé
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.
Neurogenetics 2004;5(4):239-43.
2004: Verny C; Ravisé N; Leutenegger A-L; Pouplard F; Dubourg O; Tardieu S; Dubas F; Brice A; Genin E; LeGuern E
Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.
Neurology 2004;63(8):1527-9.
2004: Mouatt-Prigent A; Muriel M-P; Gu W-J; El Hachimi K H; Lücking C B; Brice A; Hirsch E C
Ultrastructural localization of parkin in the rat brainstem, thalamus and basal ganglia.
Journal of neural transmission (Vienna, Austria : 1996) 2004;111(10-11):1209-18.
2004: Ibáñez P; Bonnet A-M; Débarges B; Lohmann E; Tison F; Pollak P; Agid Y; Dürr A; Brice A
Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease.
Lancet 2004;364(9440):1169-71.
2004: Stevanin G; Durr A; Dussert C; Penet C; Brice A
Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians.
Neurology 2004;63(5):936.
2004: Stevanin Giovanni; Hahn Valérie; Lohmann Ebba; Bouslam Naima; Gouttard Michel; Soumphonphakdy Caroline; Welter Marie-Laure; Ollagnon-Roman Elisabeth; Lemainque Arnaud; Ruberg Merle; Brice Alexis; Durr Alexandra
Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.
Archives of neurology 2004;61(8):1242-8.
2004: Seilhean Danielle; Takahashi Junko; El Hachimi Khalid Hamid; Fujigasaki Hiroto; Lebre Anne-Sophie; Biancalana Valérie; Dürr Alexandra; Salachas François; Hogenhuis Jean; de Thé Hugues; Hauw Jean-Jacques; Meininger Vincent; Brice Alexis; Duyckaerts Charles
Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions.
Acta neuropathologica 2004;108(1):81-7.
2004: Ibáñez P; Lohmann E; Pollak P; Durif F; Tranchant C; Agid Y; Dürr A; Brice A;
Absence of NR4A2 exon 1 mutations in 108 families with autosomal dominant Parkinson disease.
Neurology 2004;62(11):2133-4.
2004: Gourfinkel-An I; Baulac S; Nabbout R; Brice A; Baulac M; Leguern E
[Recent insights into the implication of ion channels in familial forms of epilepsies associated or non associated to febrile convulsions]
Revue neurologique 2004;160(5 Pt 2):S90-7.
2004: Gourfinkel-An Isabelle; Baulac Stéphanie; Nabbout Rima; Ruberg Merle; Baulac Michel; Brice Alexis; LeGuern Eric
Monogenic idiopathic epilepsies.
Lancet neurology 2004;3(4):209-18.
2004: Le Ber Isabelle; Bouslam Naïma; Rivaud-Péchoux Sophie; Guimarães João; Benomar Ali; Chamayou Céline; Goizet Cyril; Moreira Maria-Ceù; Klur Sandra; Yahyaoui Mohamed; Agid Yves; Koenig Michel; Stevanin Giovanni; Brice Alexis; Dürr Alexandra
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.
Brain : a journal of neurology 2004;127(Pt 4):759-67.
2004: Moreira Maria-Céu; Klur Sandra; Watanabe Mitsunori; Németh Andrea H; Le Ber Isabelle; Moniz José-Carlos; Tranchant Christine; Aubourg Patrick; Tazir Meriem; Schöls Lüdger; Pandolfo Massimo; Schulz Jörg B; Pouget Jean; Calvas Patrick; Shizuka-Ikeda Masami; Shoji Mikio; Tanaka Makoto; Izatt Louise; Shaw Christopher E; M'Zahem Abderrahim; Dunne Eimear; Bomont Pascale; Benhassine Traki; Bouslam Naïma; Stevanin Giovanni; Brice Alexis; Guimarães João; Mendonça Pedro; Barbot Clara; Coutinho Paula; Sequeiros Jorge; Dürr Alexandra; Warter Jean-Marie; Koenig Michel
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Nature genetics 2004;36(3):225-7.
2004: Stevanin Giovanni; Bouslam Naima; Thobois Stéphane; Azzedine Hamid; Ravaux Lucas; Boland Anne; Schalling Martin; Broussolle Emmanuel; Dürr Alexandra; Brice Alexis
Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.
Annals of neurology 2004;55(1):97-104.
2004: Zagorovskaia T B; Illarioshkin S N; Slominskii P A; Ivanova-Smolenskaia I A; Markova E D; Limborskaia S A; Levin O S; Miloserdova O V; Proskokova T N; Bagyeva B Kh; Brice A
[Clinical and genetic analysis of juvenile parkinsonism in Russia]
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova / Ministerstvo zdravookhraneniia i meditsinskoi promyshlennosti Rossiiskoi Federatsii, Vserossiiskoe obshchestvo nevrologov [i] Vserossiiskoe obshchestvo psikhiatrov 2004;104(8):66-72.
2003: Gu Wen-Jie; Corti Olga; Araujo Francisco; Hampe Cornelia; Jacquier Sandrine; Lücking Christoph B; Abbas Nacer; Duyckaerts Charles; Rooney Thomas; Pradier Laurent; Ruberg Merle; Brice Alexis
The C289G and C418R missense mutations cause rapid sequestration of human Parkin into insoluble aggregates.
Neurobiology of disease 2003;14(3):357-64.
2003: Cousin Emmanuelle; Hannequin Didier; Macé Sandrine; Dubois Bruno; Ricard Sylvain; Génin Emmanuelle; Brun Christophe; Chansac Céline; Pradier Laurent; Frebourg Thierry; Brice Alexis; Campion Dominique; Deleuze Jean-François
No replication of the association between the Nicastrin gene and familial early-onset Alzheimer's disease.
Neuroscience letters 2003;353(2):153-5.
2003: Le Ber Isabelle; Moreira Maria-Ceù; Rivaud-Péchoux Sophie; Chamayou Céline; Ochsner François; Kuntzer Thierry; Tardieu Marc; Saïd Gérard; Habert Marie-Odile; Demarquay Geneviève; Tannier Christian; Beis Jean-Marie; Brice Alexis; Koenig Michel; Dürr Alexandra
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
Brain : a journal of neurology 2003;126(Pt 12):2761-72.
2003: Ibáñez P; De Michele G; Bonifati V; Lohmann E; Thobois S; Pollak P; Agid Y; Heutink P; Dürr A; Brice A;
Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism.
Neurology 2003;61(10):1429-31.
2003: Nabbout R; Kozlovski A; Gennaro E; Bahi-Buisson N; Zara F; Chiron C; Bianchi A; Brice A; Leguern E; Dulac O
Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy.
Epilepsy research 2003;56(2-3):127-33.
2003: Bonifati V; Rizzu P; Squitieri F; Krieger E; Vanacore N; van Swieten J C; Brice A; van Duijn C M; Oostra B; Meco G; Heutink P
DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2003;24(3):159-60.
2003: Sibbing D; Asmus F; König I R; Tezenas du Montcel S; Vidailhet M; Sangla S; Oertel W H; Brice A; Ziegler A; Gasser T; Bandmann O
Candidate gene studies in focal dystonia.
Neurology 2003;61(8):1097-101.
2003: Lücking Christoph-Burkhard; Chesneau Véronique; Lohmann Ebba; Verpillat Patrice; Dulac Cyprien; Bonnet Anne-Marie; Gasparini Francesca; Agid Yves; Dürr Alexandra; Brice Alexis
Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.
Archives of neurology 2003;60(9):1253-6.
2003: Gourfinkel-An I; Parain K; Hartmann A; Mangiarini L; Brice A; Bates G; Hirsch E C
Changes in GAD67 mRNA expression evidenced by in situ hybridization in the brain of R6/2 transgenic mice.
Journal of neurochemistry 2003;86(6):1369-78.
2003: Itier Jean-Michel; Ibanez Pablo; Mena Maria Angeles; Abbas Nacer; Cohen-Salmon Charles; Bohme Georg Andrees; Laville Michel; Pratt Jeremy; Corti Olga; Pradier Laurent; Ret Gwenaelle; Joubert Chantal; Periquet Magali; Araujo Francisco; Negroni Julia; Casarejos Maria Jose; Canals Santiago; Solano Rosa; Serrano Alba; Gallego Eva; Sanchez Marina; Denefle Patrice; Benavides Jesus; Tremp Gunter; Rooney Thomas A; Brice Alexis; Garcia de Yebenes Justo
Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse.
Human molecular genetics 2003;12(18):2277-91.
2003: Tallaksen Chantal M E; Guichart-Gomez Elodie; Verpillat Patrice; Hahn-Barma Valerie; Ruberg Merle; Fontaine Bertrand; Brice Alexis; Dubois Bruno; Durr Alexandra
Subtle cognitive impairment but no dementia in patients with spastin mutations.
Archives of neurology 2003;60(8):1113-8.
2003: Le Ber Isabelle; Camuzat Agnès; Castelnovo Giovanni; Azulay Jean-Philippe; Genton Pierre; Gastaut Jean-Louis; Broglin Dominique; Labauge Pierre; Brice Alexis; Durr Alexandra
Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia.
Archives of neurology 2003;60(8):1097-9.
2003: Takahashi Junko; Fujigasaki Hiroto; Iwabuchi Kiyoshi; Bruni Amalia C; Uchihara Toshiki; El Hachimi Khalid H; Stevanin Giovanni; Dürr Alexandra; Lebre Anne Sophie; Trottier Yvon; de Thé Hugues; Tanaka Junichi; Hauw Jean Jacques; Duyckaerts Charles; Brice Alexis
PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases.
Neurobiology of disease 2003;13(3):230-7.
2003: Lohmann Ebba; Periquet Magali; Bonifati Vincenzo; Wood Nick W; De Michele Giuseppe; Bonnet Anne-Marie; Fraix Valérie; Broussolle Emmanuel; Horstink Martin W I M; Vidailhet Marie; Verpillat Patrice; Gasser Thomas; Nicholl David; Teive Hélio; Raskin Salmo; Rascol Olivier; Destée Alain; Ruberg Merle; Gasparini Francesca; Meco Giuseppe; Agid Yves; Durr Alexandra; Brice Alexis;
How much phenotypic variation can be attributed to parkin genotype?
Annals of neurology 2003;54(2):176-85.
2003: Illarioshkin Sergei N; Periquet Magali; Rawal Nina; Lücking Christoph B; Zagorovskaya Tatyana B; Slominsky Pyotr A; Miloserdova Olga V; Markova Elena D; Limborska Svetlana A; Ivanova-Smolenskaya Irina A; Brice Alexis
Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism.
Movement disorders : official journal of the Movement Disorder Society 2003;18(8):914-9.
2003: Stevanin Giovanni; Fujigasaki Hiroto; Lebre Anne-Sophie; Camuzat Agnes; Jeannequin Cecile; Dode Catherine; Takahashi Junko; San Chankranira; Bellance Robert; Brice Alexis; Durr Alexandra
Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.
Brain : a journal of neurology 2003;126(Pt 7):1599-603.
2003: Corti Olga; Hampe Cornelia; Koutnikova Hana; Darios Frédéric; Jacquier Sandrine; Prigent Annick; Robinson Jean-Charles; Pradier Laurent; Ruberg Merle; Mirande Marc; Hirsch Etienne; Rooney Thomas; Fournier Alain; Brice Alexis
The p38 subunit of the aminoacyl-tRNA synthetase complex is a Parkin substrate: linking protein biosynthesis and neurodegeneration.
Human molecular genetics 2003;12(12):1427-37.
2003: Periquet Magali; Latouche Morwena; Lohmann Ebba; Rawal Nina; De Michele Giuseppe; Ricard Sylvain; Teive Hélio; Fraix Valérie; Vidailhet Marie; Nicholl David; Barone Paolo; Wood Nick W; Raskin Salmo; Deleuze Jean-François; Agid Yves; Dürr Alexandra; Brice Alexis;
Parkin mutations are frequent in patients with isolated early-onset parkinsonism.
Brain : a journal of neurology 2003;126(Pt 6):1271-8.
2003: Azzedine H; Ruberg M; Ente D; Gilardeau C; Périé S; Wechsler B; Brice A; LeGuern E; Dubourg O
Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.
Neuromuscular disorders : NMD 2003;13(4):341-6.
2003: Corti Olga; Brice Alexis
[Parkinson's disease: what have we learned from the genes responsible for familial forms?]
Médecine sciences : M/S 2003;19(5):613-9.
2003: Thobois Stéphane; Ribeiro Maria-Joao; Lohmann Ebba; Dürr Alexandra; Pollak Pierre; Rascol Olivier; Guillouet Stéphane; Chapoy Elizabeth; Costes Nicolas; Agid Yves; Remy Philippe; Brice Alexis; Broussolle Emmanuel;
Young-onset Parkinson disease with and without parkin gene mutations: a fluorodopa F 18 positron emission tomography study.
Archives of neurology 2003;60(5):713-8.
2003: Cousin Emmanuelle; Hannequin Didier; Ricard Sylvain; Macé Sandrine; Génin Emmanuelle; Chansac Céline; Brice Alexis; Dubois Bruno; Frebourg Thierry; Mercken Luc; Benavides Jesus; Pradier Laurent; Campion Dominique; Deleuze Jean François
A risk for early-onset Alzheimer's disease associated with the APBB1 gene (FE65) intron 13 polymorphism.
Neuroscience letters 2003;342(1-2):5-8.
2003: Azzedine H; Bolino A; Taïeb T; Birouk N; Di Duca M; Bouhouche A; Benamou S; Mrabet A; Hammadouche T; Chkili T; Gouider R; Ravazzolo R; Brice A; Laporte J; LeGuern E
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
American journal of human genetics 2003;72(5):1141-53.
2003: Rawal N; Periquet M; Lohmann E; Lücking C B; Teive H A; Ambrosio G; Raskin S; Lincoln S; Hattori N; Guimaraes J; Horstink M W I M; Dos Santos Bele W; Brousolle E; Destée A; Mizuno Y; Farrer M; Deleuze J-F; De Michele G; Agid Y; Dürr A; Brice A;
New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism.
Neurology 2003;60(8):1378-81.
2003: Birouk Nazha; Azzedine Hamid; Dubourg Odile; Muriel Marie-Paule; Benomar Ali; Hamadouche Tarik; Maisonobe Thierry; Ouazzani Reda; Brice Alexis; Yahyaoui Mohamed; Chkili Taïb; Le Guern Eric
Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.
Archives of neurology 2003;60(4):598-604.
2003: Ravisé Nicole; Dubourg Odile; Tardieu Sandrine; Aurias Françoise; Mercadiel Monique; Coullin Philippe; Ruberg Merle; Catala Martin; Lesourd Sylvie; Brice Alexis; LeGuern Eric
Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): a prospective study of 130 patients with inherited peripheral neuropathies.
American journal of medical genetics. Part A 2003;118A(1):43-8.
2003: Darios Frédéric; Corti Olga; Lücking Christoph B; Hampe Cornelia; Muriel Marie-Paule; Abbas Nacer; Gu Wen-Jie; Hirsch Etienne C; Rooney Thomas; Ruberg Merle; Brice Alexis
Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death.
Human molecular genetics 2003;12(5):517-26.
2003: Bonifati Vincenzo; Rizzu Patrizia; van Baren Marijke J; Schaap Onno; Breedveld Guido J; Krieger Elmar; Dekker Marieke C J; Squitieri Ferdinando; Ibanez Pablo; Joosse Marijke; van Dongen Jeroen W; Vanacore Nicola; van Swieten John C; Brice Alexis; Meco Giuseppe; van Duijn Cornelia M; Oostra Ben A; Heutink Peter
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.
Science (New York, N.Y.) 2003;299(5604):256-9.
2003: Lebre A-S; Brice A
Spinocerebellar ataxia 7 (SCA7).
Cytogenetic and genome research 2003;100(1-4):154-63.
2003: Lücking Christoph B; Brice Alexis
Semiquantitative PCR for the detection of exon rearrangements in the Parkin gene.
Methods in molecular biology (Clifton, N.J.) 2003;217():13-26.
2002: Illarioshkin S N; Rakhmonov R A; Ivanova-Smolenskaia I A; Brice A; Markova E D; Miklina N I; Kliushnikov S A; Limborskaia S A
[Molecular genetic analysis of essential tremor]
Genetika 2002;38(12):1704-9.
2002: Verpillat Patrice; Ricard Sylvain; Hannequin Didier; Dubois Bruno; Bou Jacqueline; Camuzat Agnès; Pradier Laurent; Frebourg Thierry; Brice Alexis; Clerget-Darpoux Françoise; Deleuze Jean-François; Campion Dominique;
Is the saitohin gene involved in neurodegenerative diseases?
Annals of neurology 2002;52(6):829-32.
2002: Nabbout Rima; Prud'homme Jean-François; Herman Alexandra; Feingold Josué; Brice Alexis; Dulac Olivier; LeGuern Eric
A locus for simple pure febrile seizures maps to chromosome 6q22-q24.
Brain : a journal of neurology 2002;125(Pt 12):2668-80.
2002: Asmus Friedrich; Zimprich Alexander; Tezenas Du Montcel Sophie; Kabus Christian; Deuschl Günther; Kupsch Andreas; Ziemann Ulf; Castro Mirna; Kühn Andrea A; Strom Tim M; Vidailhet Marie; Bhatia Kailash P; Dürr Alexandra; Wood Nicholas W; Brice Alexis; Gasser Thomas
Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.
Annals of neurology 2002;52(4):489-92.
2002: Lansbury Peter T; Brice Alexis
Genetics of Parkinson's disease and biochemical studies of implicated gene products.
Current opinion in cell biology 2002;14(5):653-60.
2002: Valente E M; Brancati F; Caputo V; Graham E A; Davis M B; Ferraris A; Breteler M M B; Gasser T; Bonifati V; Bentivoglio A R; De Michele G; Dürr A; Cortelli P; Filla A; Meco G; Oostra B A; Brice A; Albanese A; Dallapiccola B; Wood N W;
PARK6 is a common cause of familial parkinsonism.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2002;23 Suppl 2():S117-8.
2002: Rawal Nina; Periquet Magali; Dürr Alexandra; de Michele Giuseppe; Bonifati Vincenzo; Teive Helio A; Raskin Salmo; Guimaraes Joao; Agid Yves; Brice Alexis;
Exclusion of the Nurr1 gene in autosomal recessive Parkinson's disease.
Journal of neurology 2002;249(8):1127-9.
2002: Boussaha Mekki; Hannequin Didier; Verpillat Patrice; Brice Alexis; Frebourg Thierry; Campion Dominique
Polymorphisms of insulin degrading enzyme gene are not associated with Alzheimer's disease.
Neuroscience letters 2002;329(1):121-3.
2002: Lohmann E; Durr A; Brice A
[Current data on the genetic of Parkinson disease]
Revue neurologique 2002;158(6-7):763-6.
2002: Borie Claire; Gasparini Francesca; Verpillat Patrice; Bonnet Anne-Marie; Agid Yves; Hetet Gilles; Brice Alexis; Dürr Alexandra; Grandchamp Bernard;
Association study between iron-related genes polymorphisms and Parkinson's disease.
Journal of neurology 2002;249(7):801-4.
2002: West Andrew; Periquet Magali; Lincoln Sarah; Lücking Christoph B; Nicholl David; Bonifati Vincenzo; Rawal Nina; Gasser Thomas; Lohmann Ebba; Deleuze Jean-François; Maraganore Demetrius; Levey Allan; Wood Nick; Dürr Alexandra; Hardy John; Brice Alexis; Farrer Matt;
Complex relationship between Parkin mutations and Parkinson disease.
American journal of medical genetics 2002;114(5):584-91.
2002: Verpillat Patrice; Camuzat Agnès; Hannequin Didier; Thomas-Anterion Catherine; Puel Michèle; Belliard Serge; Dubois Bruno; Didic Mira; Lacomblez Lucette; Moreaud Olivier; Golfier Véronique; Campion Dominique; Brice Alexis; Clerget-Darpoux Françoise
Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis.
European journal of human genetics : EJHG 2002;10(7):399-405.
2002: Takahashi Junko; Fujigasaki Hiroto; Zander Cecilia; El Hachimi Khalid H; Stevanin Giovanni; Dürr Alexandra; Lebre Anne-Sophie; Yvert Gaël; Trottier Yvon; de Thé Hugues; Hauw Jean-Jacques; Duyckaerts Charles; Brice Alexis
Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content.
Brain : a journal of neurology 2002;125(Pt 7):1534-43.
2002: Aleman Tomas S; Cideciyan Artur V; Volpe Nicholas J; Stevanin Giovanni; Brice Alexis; Jacobson Samuel G
Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype.
Experimental eye research 2002;74(6):737-45.
2002: Lansbury Peter T; Brice Alexis
Genetics of Parkinson's disease and biochemical studies of implicated gene products.
Current opinion in genetics & development 2002;12(3):299-306.
2002: Verpillat Patrice; Camuzat Agnès; Hannequin Didier; Thomas-Anterion Catherine; Puel Michèle; Belliard Serge; Dubois Bruno; Didic Mira; Michel Bernard-François; Lacomblez Lucette; Moreaud Olivier; Sellal François; Golfier Véronique; Campion Dominique; Clerget-Darpoux Françoise; Brice Alexis
Association between the extended tau haplotype and frontotemporal dementia.
Archives of neurology 2002;59(6):935-9.
2002: Hansen Jens Jacob; Dürr Alexandra; Cournu-Rebeix Isabelle; Georgopoulos Costa; Ang Debbie; Nielsen Marit Nyholm; Davoine Claire-Sophie; Brice Alexis; Fontaine Bertrand; Gregersen Niels; Bross Peter
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.
American journal of human genetics 2002;70(5):1328-32.
2002: Caparros-Lefebvre Dominique; Sergeant Nicolas; Lees Andrew; Camuzat Agnes; Daniel Susan; Lannuzel Annie; Brice Alexis; Tolosa Eduardo; Delacourte Andre; Duyckaerts Charles
Guadeloupean parkinsonism: a cluster of progressive supranuclear palsy-like tauopathy.
Brain : a journal of neurology 2002;125(Pt 4):801-11.
2002: Stevanin G; Camuzat A; Holmes S E; Julien C; Sahloul R; Dodé C; Hahn-Barma V; Ross C A; Margolis R L; Durr A; Brice A
CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients.
Neurology 2002;58(6):965-7.
2002: Labauge P; Amer L O; Simonetta-Moreau M; Attané F; Tannier C; Clanet M; Castelnovo G; An-Gourfinkel I; Agid Y; Brice A; Ducros A; LeGuern E
Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME).
Neurology 2002;58(6):941-4.
2002: Fujigasaki Hiroto; Tardieu Sandrine; Camuzat Agnès; Stevanin Giovanni; LeGuern Eric; Matsuura Tohru; Ashizawa Tetsuo; Dürr Alexandra; Brice Alexis
Spinocerebellar ataxia type 10 in the French population.
Annals of neurology 2002;51(3):408-9.
2002: Horstink M W I M; van de Warrenburg B P C; Lammens M; Brice A
Parkin gene related neuronal multisystem disorder.
Journal of neurology, neurosurgery, and psychiatry 2002;72(3):419-20.
2002: Philippe Anne; Guilloud-Bataille Michel; Martinez Maria; Gillberg Christopher; Råstam Maria; Sponheim Eili; Coleman Mary; Zappella Michele; Aschauer Harald; Penet Christiane; Feingold Josué; Brice Alexis; Leboyer Marion;
Analysis of ten candidate genes in autism by association and linkage.
American journal of medical genetics 2002;114(2):125-8.
2002: Gourfinkel-An Isabelle; Vila Miquel; Faucheux Baptiste; Duyckaerts Charles; Viallet François; Hauw Jean-Jacques; Brice Alexis; Agid Yves; Hirsch Etienne C
Metabolic changes in the basal ganglia of patients with Huntington's disease: an in situ hybridization study of cytochrome oxidase subunit I mRNA.
Journal of neurochemistry 2002;80(3):466-76.
2002: Jacquemont M L; Campion D; Hahn V; Tallaksen C; Frebourg T; Brice A; Durr A
Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease.
Journal of medical genetics 2002;39(2):E2.
2002: Valente Enza Maria; Brancati Francesco; Ferraris Alessandro; Graham Elizabeth A; Davis Mary B; Breteler Monique M B; Gasser Thomas; Bonifati Vincenzo; Bentivoglio Anna Rita; De Michele Giuseppe; Dürr Alexandra; Cortelli Pietro; Wassilowsky Dietmar; Harhangi Biswadjiet S; Rawal Nina; Caputo Viviana; Filla Alessandro; Meco Giuseppe; Oostra Ben A; Brice Alexis; Albanese Alberto; Dallapiccola Bruno; Wood Nicholas W;
PARK6-linked parkinsonism occurs in several European families.
Annals of neurology 2002;51(1):14-8.
2002: Stevanin Giovanni; Dürr Alexandra; Brice Alexis
Spinocerebellar ataxias caused by polyglutamine expansions.
Advances in experimental medicine and biology 2002;516():47-77.
2002: Corti Olga; Brice Alexis
[Parkin, alpha-synuclein and other molecular aspects of Parkinson's disease]
Journal de la Société de biologie 2002;196(1):95-10.
2001: Holmes S E; O'Hearn E; Rosenblatt A; Callahan C; Hwang H S; Ingersoll-Ashworth R G; Fleisher A; Stevanin G; Brice A; Potter N T; Ross C A; Margolis R L
A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.
Nature genetics 2001;29(4):377-8.
2001: Zander C; Takahashi J; El Hachimi K H; Fujigasaki H; Albanese V; Lebre A S; Stevanin G; Duyckaerts C; Brice A
Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3.
Human molecular genetics 2001;10(22):2569-79.
2001: Dubourg O; Tardieu S; Birouk N; Gouider R; Léger J M; Maisonobe T; Brice A; Bouche P; LeGuern E
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.
Brain : a journal of neurology 2001;124(Pt 10):1958-67.
2001: Fujigasaki H; Martin J J; De Deyn P P; Camuzat A; Deffond D; Stevanin G; Dermaut B; Van Broeckhoven C; Dürr A; Brice A
CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia.
Brain : a journal of neurology 2001;124(Pt 10):1939-47.
2001: Bonifati V; Lücking C B; Fabrizio E; Periquet M; Meco G; Brice A
Three parkin gene mutations in a sibship with autosomal recessive early onset parkinsonism.
Journal of neurology, neurosurgery, and psychiatry 2001;71(4):531-4.
2001: Corti O; Brice A
Parkin and Parkinson's: more than homonymy?
Annals of neurology 2001;50(3):283-5.
2001: Lücking C B; Bonifati V; Periquet M; Vanacore N; Brice A; Meco G
Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutations.
Neurology 2001;57(5):924-7.
2001: Tallaksen C M; Dürr A; Brice A
Recent advances in hereditary spastic paraplegia.
Current opinion in neurology 2001;14(4):457-63.
2001: Dubourg O; Tardieu S; Birouk N; Gouider R; Léger J M; Maisonobe T; Brice A; Bouche P; LeGuern E
The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity.
Neuromuscular disorders : NMD 2001;11(5):458-63.
2001: Verpillat P; Bouley S; Campion D; Hannequin D; Dubois B; Belliard S; Puel M; Thomas-Antérion C; Agid Y; Brice A; Clerget-Darpoux F
Use of haplotype information to test involvement of the LRP gene in Alzheimer's disease in the French population.
European journal of human genetics : EJHG 2001;9(6):464-8.
2001: Baulac S; Picard F; Herman A; Feingold J; Genin E; Hirsch E; Prud'homme J F; Baulac M; Brice A; LeGuern E
Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31.
Annals of neurology 2001;49(6):786-92.
2001: Lebre A S; Jamot L; Takahashi J; Spassky N; Leprince C; Ravisé N; Zander C; Fujigasaki H; Kussel-Andermann P; Duyckaerts C; Camonis J H; Brice A
Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions.
Human molecular genetics 2001;10(11):1201-13.
2001: Vidailhet M; Tassin J; Durif F; Nivelon-Chevallier A; Agid Y; Brice A; Dürr A
A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q.
Neurology 2001;56(9):1213-6.
2001: Baulac S; Huberfeld G; Gourfinkel-An I; Mitropoulou G; Beranger A; Prud'homme J F; Baulac M; Brice A; Bruzzone R; LeGuern E
First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.
Nature genetics 2001;28(1):46-8.
2001: Zarate-Lagunes M; Gu W J; Blanchard V; Francois C; Muriel M P; Mouatt-Prigent A; Bonici B; Parent A; Hartmann A; Yelnik J; Boehme G A; Pradier L; Moussaoui S; Faucheux B; Raisman-Vozari R; Agid Y; Brice A; Hirsch E C
Parkin immunoreactivity in the brain of human and non-human primates: an immunohistochemical analysis in normal conditions and in Parkinsonian syndromes.
The Journal of comparative neurology 2001;432(2):184-96.
2001: Periquet M; Lücking C; Vaughan J; Bonifati V; Dürr A; De Michele G; Horstink M; Farrer M; Illarioshkin S N; Pollak P; Borg M; Brefel-Courbon C; Denefle P; Meco G; Gasser T; Breteler M M; Wood N; Agid Y; Brice A;
Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.
American journal of human genetics 2001;68(3):617-26.
2001: Bonifati V; De Michele G; Lücking C B; Dürr A; Fabrizio E; Ambrosio G; Vanacore N; De Mari M; Marconi R; Capus L; Breteler M M; Gasser T; Oostra B; Wood N; Agid Y; Filla A; Meco G; Brice A;
The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2001;22(1):51-2.
2001: van de Warrenburg B P; Lammens M; Lücking C B; Denèfle P; Wesseling P; Booij J; Praamstra P; Quinn N; Brice A; Horstink M W
Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations.
Neurology 2001;56(4):555-7.
2001: Guilbot A; Williams A; Ravisé N; Verny C; Brice A; Sherman D L; Brophy P J; LeGuern E; Delague V; Bareil C; Mégarbané A; Claustres M
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.
Human molecular genetics 2001;10(4):415-21.
2001: Gaspar C; Lopes-Cendes I; Hayes S; Goto J; Arvidsson K; Dias A; Silveira I; Maciel P; Coutinho P; Lima M; Zhou Y X; Soong B W; Watanabe M; Giunti P; Stevanin G; Riess O; Sasaki H; Hsieh M; Nicholson G A; Brunt E; Higgins J J; Lauritzen M; Tranebjaerg L; Volpini V; Wood N; Ranum L; Tsuji S; Brice A; Sequeiros J; Rouleau G A
Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.
American journal of human genetics 2001;68(2):523-8.
2001: Fujigasaki H; Verma I C; Camuzat A; Margolis R L; Zander C; Lebre A S; Jamot L; Saxena R; Anand I; Holmes S E; Ross C A; Dürr A; Brice A
SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family.
Annals of neurology 2001;49(1):117-21.
2000: Lücking C B; Brice A
Alpha-synuclein and Parkinson's disease.
Cellular and molecular life sciences : CMLS 2000;57(13-14):1894-908.
2000: Illarioshkin S N; Ivanova-Smolenskaya I A; Markova E D; Zagorovskaya T B; Brice A
Lack of alpha-synuclein gene mutations in families with autosomal dominant Parkinson's disease in Russia.
Journal of neurology 2000;247(12):968-9.
2000: Cancel G; Duyckaerts C; Holmberg M; Zander C; Yvert G; Lebre A S; Ruberg M; Faucheux B; Agid Y; Hirsch E; Brice A
Distribution of ataxin-7 in normal human brain and retina.
Brain : a journal of neurology 2000;123 Pt 12():2519-30.
2000: Raux G; Gantier R; Thomas-Anterion C; Boulliat J; Verpillat P; Hannequin D; Brice A; Frebourg T; Campion D
Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation.
Neurology 2000;55(10):1577-8.
2000: Dubourg O; Barhoumi C; Azzedine H; Birouk N; Brice A; Bouche P; Leguern E
Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness.
Muscle & nerve 2000;23(10):1508-14.
2000: Illarioshkin S N; Ivanova-Smolenskaya I A; Rahmonov R A; Markova E D; Stevanin G; Brice A
Clinical and genetic study of familial essential tremor in an isolate of Northern Tajikistan.
Movement disorders : official journal of the Movement Disorder Society 2000;15(5):1020-3.
2000: Zurutuza L; Verpillat P; Raux G; Hannequin D; Puel M; Belliard S; Michon A; Pothin Y; Camuzat A; Penet C; Martin C; Brice A; Campion D; Clerget-Darpoux F; Frebourg T
APOE promoter polymorphisms do not confer independent risk for Alzheimer's disease in a French population.
European journal of human genetics : EJHG 2000;8(9):713-6.
2000: Verpillat P; Bouley S; Hannequin D; Belliard S; Puel M; Thomas-Anterion C; Dubois B; Agid Y; Campion D; Clerget-Darpoux F; Brice A
Alpha2-macroglobulin gene and Alzheimer's disease: confirmation of association by haplotypes analyses.
Annals of neurology 2000;48(3):400-2.
2000: Durr A; Brice A
Clinical and genetic aspects of spinocerebellar degeneration.
Current opinion in neurology 2000;13(4):407-13.
2000: Dürr A; Tassin J; Vidailhet M; Durif F; Jedynak P; Agid Y; Brice A
D2 dopamine receptor gene in myoclonic dystonia and essential myoclonus.
Annals of neurology 2000;48(1):127-8.
2000: Raux G; Gantier R; Martin C; Pothin Y; Brice A; Frebourg T; Campion D
A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease.
Human mutation 2000;16(1):95.
2000: Herman-Bert A; Stevanin G; Netter J C; Rascol O; Brassat D; Calvas P; Camuzat A; Yuan Q; Schalling M; Dürr A; Brice A
Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation.
American journal of human genetics 2000;67(1):229-35.
2000: Picard F; Baulac S; Kahane P; Hirsch E; Sebastianelli R; Thomas P; Vigevano F; Genton P; Guerrini R; Gericke C A; An I; Rudolf G; Herman A; Brice A; Marescaux C; LeGuern E
Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families.
Brain : a journal of neurology 2000;123 ( Pt 6)():1247-62.
2000: Tassin J; Dürr A; Bonnet A M; Gil R; Vidailhet M; Lücking C B; Goas J Y; Durif F; Abada M; Echenne B; Motte J; Lagueny A; Lacomblez L; Jedynak P; Bartholomé B; Agid Y; Brice A
Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?
Brain : a journal of neurology 2000;123 ( Pt 6)():1112-21.
2000: Lücking C B; Dürr A; Bonifati V; Vaughan J; De Michele G; Gasser T; Harhangi B S; Meco G; Denèfle P; Wood N W; Agid Y; Brice A;
Association between early-onset Parkinson's disease and mutations in the parkin gene.
The New England journal of medicine 2000;342(21):1560-7.
2000: Escayg A; MacDonald B T; Meisler M H; Baulac S; Huberfeld G; An-Gourfinkel I; Brice A; LeGuern E; Moulard B; Chaigne D; Buresi C; Malafosse A
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
Nature genetics 2000;24(4):343-5.
2000: Gu W J; Abbas N; Lagunes M Z; Parent A; Pradier L; Bohme G A; Agid Y; Hirsch E C; Raisman-Vozari R; Brice A
Cloning of rat parkin cDNA and distribution of parkin in rat brain.
Journal of neurochemistry 2000;74(4):1773-6.
2000: Dubourg O; Mouton P; Brice A; LeGuern E; Bouche P
Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies.
Neuromuscular disorders : NMD 2000;10(3):206-8.
2000: Brassat D; Camuzat A; Vidailhet M; Feki I; Jedynak P; Klap P; Agid Y; Dürr A; Brice A
Frequency of the DYT1 mutation in primary torsion dystonia without family history.
Archives of neurology 2000;57(3):333-5.
2000: Stevanin G; Herman A; Dürr A; Jodice C; Frontali M; Agid Y; Brice A
Are (CTG)n expansions at the SCA8 locus rare polymorphisms?
Nature genetics 2000;24(3):213; author reply 215.
2000: Fonknechten N; Mavel D; Byrne P; Davoine C S; Cruaud C; Bönsch D; Samson D; Coutinho P; Hutchinson M; McMonagle P; Burgunder J M; Tartaglione A; Heinzlef O; Feki I; Deufel T; Parfrey N; Brice A; Fontaine B; Prud'homme J F; Weissenbach J; Dürr A; Hazan J
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
Human molecular genetics 2000;9(4):637-44.
2000: Fontaine B; Davoine C S; Dürr A; Paternotte C; Feki I; Weissenbach J; Hazan J; Brice A
A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.
American journal of human genetics 2000;66(2):702-7.
2000: Stevanin G; Dürr A; Brice A
Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology.
European journal of human genetics : EJHG 2000;8(1):4-18.
2000: Salih M A; Maisonobe T; Kabiraj M; al Rayess M; al-Turaiki M H; Akbar M; Tahan A; Urtizberea J A; Grid D; Hamadouche T; Guilbot A; Brice A; Leguern E
Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity.
Neuromuscular disorders : NMD 2000;10(1):10-5.
2000: Zander C; Yuan Q P; Lindblad K; Stevanin G; Dürr A; Davoine C S; Hazan J; Fontaine B; Brice A; Schalling M
No evidence for long CAG/CTG repeats in families with spastic paraplegia linked to chromosome 2p21-24.
Neuroscience letters 2000;279(1):41-4.
2000: Brice A
[The genome and neurology. The example of Parkinson's disease]
Bulletin de l'Académie nationale de médecine 2000;184(7):1451-60; discussion 1460-1.
1999: Stevanin G; David G; Dürr A; Giunti P; Benomar A; Abada-Bendib M; Lee M S; Agid Y; Brice A
Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG).
European journal of human genetics : EJHG 1999;7(8):889-96.
1999: Guilbot A; Ravisé N; Bouhouche A; Coullin P; Birouk N; Maisonobe T; Kuntzer T; Vial C; Grid D; Brice A; LeGuern E
Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1.
European journal of human genetics : EJHG 1999;7(8):849-59.
1999: Hazan J; Fonknechten N; Mavel D; Paternotte C; Samson D; Artiguenave F; Davoine C S; Cruaud C; Dürr A; Wincker P; Brottier P; Cattolico L; Barbe V; Burgunder J M; Prud'homme J F; Brice A; Fontaine B; Heilig B; Weissenbach J
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
Nature genetics 1999;23(3):296-303.
1999: Lopes J; Tardieu S; Silander K; Blair I; Vandenberghe A; Palau F; Ruberg M; Brice A; LeGuern E
Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP.
Human molecular genetics 1999;8(12):2285-92.
1999: Stevanin G; Herman A; Brice A; Dürr A
Clinical and MRI findings in spinocerebellar ataxia type 5.
Neurology 1999;53(6):1355-7.
1999: Baulac S; Gourfinkel-An I; Picard F; Rosenberg-Bourgin M; Prud'homme J F; Baulac M; Brice A; LeGuern E
A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.
American journal of human genetics 1999;65(4):1078-85.
1999: Guilbot A; Kessali M; Ravisé N; Hammadouche T; Bouhouche A; Maisonobe T; Grid D; Brice A; LeGuern E
The autosomal recessive form of CMT disease linked to 5q31-q33.
Annals of the New York Academy of Sciences 1999;883():453-6.
1999: Guilbot A; Kessali M; Ravisé N; Hammadouche T; Bouhouche A; Maisonobe T; Grid D; Brice A; Leguern E
The autosomal recessive form of CMT disease linked to 5q31-q33.
Annals of the New York Academy of Sciences 1999;883():56-9.
1999: Bürk K; Fetter M; Abele M; Laccone F; Brice A; Dichgans J; Klockgether T
Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3.
Journal of neurology 1999;246(9):789-97.
1999: Hazan J; Davoine C S; Mavel D; Fonknechten N; Paternotte C; Fizames C; Cruaud C; Samson D; Muselet D; Vega-Czarny N; Brice A; Gyapay G; Heilig R; Fontaine B; Weissenbach J
A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia.
Genomics 1999;60(3):309-19.
1999: Bouhouche A; Benomar A; Birouk N; Mularoni A; Meggouh F; Tassin J; Grid D; Vandenberghe A; Yahyaoui M; Chkili T; Brice A; LeGuern E
A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.
American journal of human genetics 1999;65(3):722-7.
1999: Campion D; Dumanchin C; Hannequin D; Dubois B; Belliard S; Puel M; Thomas-Anterion C; Michon A; Martin C; Charbonnier F; Raux G; Camuzat A; Penet C; Mesnage V; Martinez M; Clerget-Darpoux F; Brice A; Frebourg T
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.
American journal of human genetics 1999;65(3):664-70.
1999: Grewal R P; Cancel G; Leeflang E P; Dürr A; McPeek M S; Draghinas D; Yao X; Stevanin G; Alnot M O; Brice A; Arnheim N
French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis.
Human molecular genetics 1999;8(9):1779-84.
1999: Brassat D; Durr A; Agid Y; Brice A
[Genetics of Parkinson disease]
La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne 1999;20(8):709-14.
1999: Harhangi B S; Farrer M J; Lincoln S; Bonifati V; Meco G; De Michele G; Brice A; Dürr A; Martinez M; Gasser T; Bereznai B; Vaughan J R; Wood N W; Hardy J; Oostra B A; Breteler M M
The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease.
Neuroscience letters 1999;270(1):1-4.
1999: Evert B O; Wüllner U; Schulz J B; Weller M; Groscurth P; Trottier Y; Brice A; Klockgether T
High level expression of expanded full-length ataxin-3 in vitro causes cell death and formation of intranuclear inclusions in neuronal cells.
Human molecular genetics 1999;8(7):1169-76.
1999: Kubis N; Dürr A; Gugenheim M; Chneiweiss H; Mazzetti P; Brice A; Bouche P
Polyneuropathy in autosomal dominant cerebellar ataxias: phenotype-genotype correlation.
Muscle & nerve 1999;22(6):712-7.
1999: Giunti P; Stevanin G; Worth P F; David G; Brice A; Wood N W
Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation.
American journal of human genetics 1999;64(6):1594-603.
1999: Didierjean O; Cancel G; Stevanin G; Dürr A; Bürk K; Benomar A; Lezin A; Belal S; Abada-Bendid M; Klockgether T; Brice A
Linkage disequilibrium at the SCA2 locus.
Journal of medical genetics 1999;36(5):415-7.
1999: Philippe A; Martinez M; Guilloud-Bataille M; Gillberg C; Råstam M; Sponheim E; Coleman M; Zappella M; Aschauer H; Van Maldergem L; Penet C; Feingold J; Brice A; Leboyer M;
Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study.
Human molecular genetics 1999;8(5):805-12.
1999: Allard J; Barron S; Trottier S; Cervera P; Daumas-Duport C; Leguern E; Brice A; Schwartz J C; Sokoloff P
Edg-2 in myelin-forming cells: isoforms, genomic mapping, and exclusion in Charcot-Marie-Tooth disease.
Glia 1999;26(2):176-85.
1999: Ring H Z; Chang H; Guilbot A; Brice A; LeGuern E; Francke U
The human neuregulin-2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q.
Human genetics 1999;104(4):326-32.
1999: Mouton P; Tardieu S; Gouider R; Birouk N; Maisonobe T; Dubourg O; Brice A; LeGuern E; Bouche P
Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion.
Neurology 1999;52(7):1440-6.
1999: Bürk K; Globas C; Bösch S; Gräber S; Abele M; Brice A; Dichgans J; Daum I; Klockgether T
Cognitive deficits in spinocerebellar ataxia 2.
Brain : a journal of neurology 1999;122 ( Pt 4)():769-77.
1999: Abbas N; Lücking C B; Ricard S; Dürr A; Bonifati V; De Michele G; Bouley S; Vaughan J R; Gasser T; Marconi R; Broussolle E; Brefel-Courbon C; Harhangi B S; Oostra B A; Fabrizio E; Böhme G A; Pradier L; Wood N W; Filla A; Meco G; Denefle P; Agid Y; Brice A
A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
Human molecular genetics 1999;8(4):567-74.
1999: Ancolio K; Dumanchin C; Barelli H; Warter J M; Brice A; Campion D; Frébourg T; Checler F
Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --> Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(7):4119-24.
1999: Sabbagh N; Brice A; Marez D; Dürr A; Legrand M; Lo Guidice J M; Destée A; Agid Y; Broly F
CYP2D6 polymorphism and Parkinson's disease susceptibility.
Movement disorders : official journal of the Movement Disorder Society 1999;14(2):230-6.
1999: Dürr A; Hahn-Barma V; Brice A; Pêcheux C; Dodé C; Feingold J
Homozygosity in Huntington's disease.
Journal of medical genetics 1999;36(2):172-3.
1999: Cossée M; Dürr A; Schmitt M; Dahl N; Trouillas P; Allinson P; Kostrzewa M; Nivelon-Chevallier A; Gustavson K H; Kohlschütter A; Müller U; Mandel J L; Brice A; Koenig M; Cavalcanti F; Tammaro A; De Michele G; Filla A; Cocozza S; Labuda M; Montermini L; Poirier J; Pandolfo M
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
Annals of neurology 1999;45(2):200-6.
1999: Duyckaerts C; Dürr A; Cancel G; Brice A
Nuclear inclusions in spinocerebellar ataxia type 1.
Acta neuropathologica 1999;97(2):201-7.
1999: Lebre A S; Durr A; Jedynak P; Ponsot G; Vidailhet M; Agid Y; Brice A
DYT1 mutation in French families with idiopathic torsion dystonia.
Brain : a journal of neurology 1999;122 ( Pt 1)():41-5.
1998: Picard F; Tassin J; Vidailhet M; Marescaux C; Picard F; Agid Y; Brice A
Autosomal dominant paroxysmal kinesigenic choreoathetosis: a clinical and genetic study of two families.
Journal of neurology, neurosurgery, and psychiatry 1998;65(6):955-6.
1998: Trottier Y; Cancel G; An-Gourfinkel I; Lutz Y; Weber C; Brice A; Hirsch E; Mandel J L
Heterogeneous intracellular localization and expression of ataxin-3.
Neurobiology of disease 1998;5(5):335-47.
1998: Brice A
[Genetics of extrapyramidal diseases]
Revue neurologique 1998;154(11):739-42.
1998: Brice A
[Parkinson disease: monogenic forms and genetic susceptibility factors]
Pathologie-biologie 1998;46(9):710-2.
1998: Lücking C B; Abbas N; Dürr A; Bonifati V; Bonnet A M; de Broucker T; De Michele G; Wood N W; Agid Y; Brice A
Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. The European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Group.
Lancet 1998;352(9137):1355-6.
1998: Takano H; Cancel G; Ikeuchi T; Lorenzetti D; Mawad R; Stevanin G; Didierjean O; Dürr A; Oyake M; Shimohata T; Sasaki R; Koide R; Igarashi S; Hayashi S; Takiyama Y; Nishizawa M; Tanaka H; Zoghbi H; Brice A; Tsuji S
Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.
American journal of human genetics 1998;63(4):1060-6.
1998: Dumanchin C; Camuzat A; Campion D; Verpillat P; Hannequin D; Dubois B; Saugier-Veber P; Martin C; Penet C; Charbonnier F; Agid Y; Frebourg T; Brice A
Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.
Human molecular genetics 1998;7(11):1825-9.
1998: Stevanin G; Giunti P; Belal G D; Dürr A; Ruberg M; Wood N; Brice A
De novo expansion of intermediate alleles in spinocerebellar ataxia 7.
Human molecular genetics 1998;7(11):1809-13.
1998: Klockgether T; Skalej M; Wedekind D; Luft A R; Welte D; Schulz J B; Abele M; Bürk K; Laccone F; Brice A; Dichgans J
Autosomal dominant cerebellar ataxia type I. MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3.
Brain : a journal of neurology 1998;121 ( Pt 9)():1687-93.
1998: Brice A
Unstable mutations and neurodegenerative disorders.
Journal of neurology 1998;245(8):505-10.
1998: Dumanchin C; Brice A; Campion D; Hannequin D; Martin C; Moreau V; Agid Y; Martinez M; Clerget-Darpoux F; Frebourg T
De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.
Journal of medical genetics 1998;35(8):672-3.
1998: Vaughan J; Durr A; Tassin J; Bereznai B; Gasser T; Bonifati V; De Michele G; Fabrizio E; Volpe G; Bandmann O; Johnson W G; Golbe L I; Breteler M; Meco G; Agid Y; Brice A; Marsden C D; Wood N W
The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: a study of 230 European cases. European Consortium on Genetic Susceptibility in Parkinson's Disease.
Annals of neurology 1998;44(2):270-3.
1998: Tassin J; Dürr A; de Broucker T; Abbas N; Bonifati V; De Michele G; Bonnet A M; Broussolle E; Pollak P; Vidailhet M; De Mari M; Marconi R; Medjbeur S; Filla A; Meco G; Agid Y; Brice A
Chromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. The French Parkinson's Disease Genetics Study Group, and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
American journal of human genetics 1998;63(1):88-94.
1998: Gourfinkel-An I; Cancel G; Duyckaerts C; Faucheux B; Hauw J J; Trottier Y; Brice A; Agid Y; Hirsch E C
Neuronal distribution of intranuclear inclusions in Huntington's disease with adult onset.
Neuroreport 1998;9(8):1823-6.
1998: Martinez M; Campion D; Brice A; Hannequin D; Dubois B; Didierjean O; Michon A; Thomas-Anterion C; Puel M; Frebourg T; Agid Y; Clerget-Darpoux F
Apolipoprotein E epsilon4 allele and familial aggregation of Alzheimer disease.
Archives of neurology 1998;55(6):810-6.
1998: Holmberg M; Duyckaerts C; Dürr A; Cancel G; Gourfinkel-An I; Damier P; Faucheux B; Trottier Y; Hirsch E C; Agid Y; Brice A
Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions.
Human molecular genetics 1998;7(5):913-8.
1998: Ikeuchi T; Sanpei K; Takano H; Sasaki H; Tashiro K; Cancel G; Brice A; Bird T D; Schellenberg G D; Pericak-Vance M A; Welsh-Bohmer K A; Clark L N; Wilhelmsen K; Tsuji S
A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q.
Genomics 1998;49(2):321-6.
1998: Klockgether T; Lüdtke R; Kramer B; Abele M; Bürk K; Schöls L; Riess O; Laccone F; Boesch S; Lopes-Cendes I; Brice A; Inzelberg R; Zilber N; Dichgans J
The natural history of degenerative ataxia: a retrospective study in 466 patients.
Brain : a journal of neurology 1998;121 ( Pt 4)():589-600.
1998: Birouk N; LeGuern E; Maisonobe T; Rouger H; Gouider R; Tardieu S; Gugenheim M; Routon M C; Léger J M; Agid Y; Brice A; Bouche P
X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.
Neurology 1998;50(4):1074-82.
1998: Vaughan J R; Farrer M J; Wszolek Z K; Gasser T; Durr A; Agid Y; Bonifati V; DeMichele G; Volpe G; Lincoln S; Breteler M; Meco G; Brice A; Marsden C D; Hardy J; Wood N W
Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations. The European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD).
Human molecular genetics 1998;7(4):751-3.
1998: Meggouh F; Benomar A; Rouger H; Tardieu S; Birouk N; Tassin J; Barhoumi C; Yahyaoui M; Chkili T; Brice A; LeGuern E
The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.
Journal of medical genetics 1998;35(3):251-2.
1998: Rivaud-Pechoux S; Dürr A; Gaymard B; Cancel G; Ploner C J; Agid Y; Brice A; Pierrot-Deseilligny C
Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I.
Annals of neurology 1998;43(3):297-302.
1998: Hahn-Barma V; Deweer B; Dürr A; Dodé C; Feingold J; Pillon B; Agid Y; Brice A; Dubois B
Are cognitive changes the first symptoms of Huntington's disease? A study of gene carriers.
Journal of neurology, neurosurgery, and psychiatry 1998;64(2):172-7.
1998: Johansson J; Forsgren L; Sandgren O; Brice A; Holmgren G; Holmberg M
Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation.
Human molecular genetics 1998;7(2):171-6.
1998: David G; Dürr A; Stevanin G; Cancel G; Abbas N; Benomar A; Belal S; Lebre A S; Abada-Bendib M; Grid D; Holmberg M; Yahyaoui M; Hentati F; Chkili T; Agid Y; Brice A
Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).
Human molecular genetics 1998;7(2):165-70.
1998: Lopes J; Ravisé N; Vandenberghe A; Palau F; Ionasescu V; Mayer M; Lévy N; Wood N; Tachi N; Bouche P; Latour P; Ruberg M; Brice A; LeGuern E
Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.
Human molecular genetics 1998;7(1):141-8.
1998: Hannequin D; Campion D; Dumanchin C; Martinez M; Agid Y; Clerget-Darpoux F; Frebourg T; Brice A
[Genetics of Alzheimer's disease]
Revue neurologique 1998;154 Suppl 2():S65-74.
1998: Cancel G; Gourfinkel-An I; Stevanin G; Didierjean O; Abbas N; Hirsch E; Agid Y; Brice A
Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease.
Human mutation 1998;11(1):23-7.
1997: Abele M; Bürk K; Andres F; Topka H; Laccone F; Bösch S; Brice A; Cancel G; Dichgans J; Klockgether T
Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3.
Brain : a journal of neurology 1997;120 ( Pt 12)():2141-8.
1997: Gourfinkel-An I; Cancel G; Trottier Y; Devys D; Tora L; Lutz Y; Imbert G; Saudou F; Stevanin G; Agid Y; Brice A; Mandel J L; Hirsch E C
Differential distribution of the normal and mutated forms of huntingtin in the human brain.
Annals of neurology 1997;42(5):712-9.
1997: Stevanin G; Dürr A; David G; Didierjean O; Cancel G; Rivaud S; Tourbah A; Warter J M; Agid Y; Brice A
Clinical and molecular features of spinocerebellar ataxia type 6.
Neurology 1997;49(5):1243-6.
1997: Lopes J; Vandenberghe A; Tardieu S; Ionasescu V; Lévy N; Wood N; Tachi N; Bouche P; Latour P; Brice A; LeGuern E
Sex-dependent rearrangements resulting in CMT1A and HNPP.
Nature genetics 1997;17(2):136-7.
1997: Schürhoff F; Stevanin G; Trottier Y; Bellivier F; Mouren-Siméoni M C; Brice A; Leboyer M
A preliminary study on early onset schizophrenia and bipolar disorder: large polyglutamine expansions are not involved.
Psychiatry research 1997;72(2):141-4.
1997: David G; Abbas N; Stevanin G; Dürr A; Yvert G; Cancel G; Weber C; Imbert G; Saudou F; Antoniou E; Drabkin H; Gemmill R; Giunti P; Benomar A; Wood N; Ruberg M; Agid Y; Mandel J L; Brice A
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
Nature genetics 1997;17(1):65-70.
1997: Le Forestier N; LeGuern E; Coullin P; Birouk N; Maisonobe T; Brice A; Léger J M; Bouche P
Recurrent polyradiculoneuropathy with the 17p11.2 deletion.
Muscle & nerve 1997;20(9):1184-6.
1997: Gasser T; Müller-Myhsok B; Wszolek Z K; Dürr A; Vaughan J R; Bonifati V; Meco G; Bereznai B; Oehlmann R; Agid Y; Brice A; Wood N
Genetic complexity and Parkinson's disease.
Science (New York, N.Y.) 1997;277(5324):388-9; author reply 389.
1997: Didierjean O; Martinez M; Campion D; Hannequin D; Dubois B; Martin C; Puel M; Thomas Anterion C; Pasquier F; Moreau O; Babron M C; Penet C; Agid Y; Clerget-Darpoux F; Frebourg T; Brice A
No effect of the alpha1-antichymotrypsin A allele in Alzheimer's disease.
Journal of neurology, neurosurgery, and psychiatry 1997;63(1):103-5.
1997: Stevanin G; Lebre A S; Mathieux C; Cancel G; Abbas N; Didierjean O; Dürr A; Trottier Y; Agid Y; Brice A
Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon.
American journal of human genetics 1997;60(6):1548-52.
1997: Hanash A; Leguern E; Birouk N; Clermont O; Pouget J; Bouche P; Munnich A; Brice A; Melki J
SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.
Journal of medical genetics 1997;34(6):507-8.
1997: Birouk N; Gouider R; Le Guern E; Gugenheim M; Tardieu S; Maisonobe T; Le Forestier N; Agid Y; Brice A; Bouche P
Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.
Brain : a journal of neurology 1997;120 ( Pt 5)():813-23.
1997: Cancel G; Dürr A; Didierjean O; Imbert G; Bürk K; Lezin A; Belal S; Benomar A; Abada-Bendib M; Vial C; Guimarães J; Chneiweiss H; Stevanin G; Yvert G; Abbas N; Saudou F; Lebre A S; Yahyaoui M; Hentati F; Vernant J C; Klockgether T; Mandel J L; Agid Y; Brice A
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.
Human molecular genetics 1997;6(5):709-15.
1997: Isnard R; Kalotka H; Dürr A; Cossée M; Schmitt M; Pousset F; Thomas D; Brice A; Koenig M; Komajda M
Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich's ataxia.
Circulation 1997;95(9):2247-9.
1997: Ruberg M; Brugg B; Prigent A; Hirsch E; Brice A; Agid Y
Is differential regulation of mitochondrial transcripts in Parkinson's disease related to apoptosis?
Journal of neurochemistry 1997;68(5):2098-110.
1997: Bürk K; Stevanin G; Didierjean O; Cancel G; Trottier Y; Skalej M; Abele M; Brice A; Dichgans J; Klockgether T
Clinical and genetic analysis of three German kindreds with autosomal dominant cerebellar ataxia type I linked to the SCA2 locus.
Journal of neurology 1997;244(4):256-61.
1997: Kessali M; Zemmouri R; Guilbot A; Maisonobe T; Brice A; LeGuern E; Grid D
A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease.
Neurology 1997;48(4):867-73.
1997: Krols L; Martin J J; David G; Van Regemorter N; Benomar A; Löfgren A; Stevanin G; Dürr A; Brice A; Van Broeckhoven C
Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1.
Human genetics 1997;99(2):225-32.
1997: Bickeböller H; Campion D; Brice A; Amouyel P; Hannequin D; Didierjean O; Penet C; Martin C; Pérez-Tur J; Michon A; Dubois B; Ledoze F; Thomas-Anterion C; Pasquier F; Puel M; Demonet J F; Moreaud O; Babron M C; Meulien D; Guez D; Chartier-Harlin M C; Frebourg T; Agid Y; Martinez M; Clerget-Darpoux F
Apolipoprotein E and Alzheimer disease: genotype-specific risks by age and sex.
American journal of human genetics 1997;60(2):439-46.
1997: LeGuern E; Gouider R; Mabin D; Tardieu S; Birouk N; Parent P; Bouche P; Brice A
Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease.
Annals of neurology 1997;41(1):104-8.
1997: Rouger H; LeGuern E; Birouk N; Gouider R; Tardieu S; Plassart E; Gugenheim M; Vallat J M; Louboutin J P; Bouche P; Agid Y; Brice A
Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.
Human mutation 1997;10(6):443-52.
1996: Brice A; Dubois B; Agid Y; Campion D; Martinez M; Clerger-Darpoux F; Bellis M; Mallet J; Frebourg T; Hannequin D; Puel M; Ledoze F; Pasquier F; Zimmerman M A; Thomas-Anterion C; Moreaud O; Goas J Y
[Genetics of dominant autosomal forms of Alzheimer disease: 3 genes and one phenotype. Groupe de Recherche Francais sur la Maladie d'Alzheimer]
Revue neurologique 1996;152(12):725-6.
1996: Stevanin G; Trottier Y; Cancel G; Dürr A; David G; Didierjean O; Bürk K; Imbert G; Saudou F; Abada-Bendib M; Gourfinkel-An I; Benomar A; Abbas N; Klockgether T; Grid D; Agid Y; Mandel J L; Brice A
Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias.
Human molecular genetics 1996;5(12):1887-92.
1996: David G; Giunti P; Abbas N; Coullin P; Stevanin G; Horta W; Gemmill R; Weissenbach J; Wood N; Cunha S; Drabkin H; Harding A E; Agid Y; Brice A
The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus.
American journal of human genetics 1996;59(6):1328-36.
1996: Imbert G; Saudou F; Yvert G; Devys D; Trottier Y; Garnier J M; Weber C; Mandel J L; Cancel G; Abbas N; Dürr A; Didierjean O; Stevanin G; Agid Y; Brice A
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.
Nature genetics 1996;14(3):285-91.
1996: Bürk K; Abele M; Fetter M; Dichgans J; Skalej M; Laccone F; Didierjean O; Brice A; Klockgether T
Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3.
Brain : a journal of neurology 1996;119 ( Pt 5)():1497-505.
1996: Dürr A; Davoine C S; Paternotte C; von Fellenberg J; Cogilinicean S; Coutinho P; Lamy C; Bourgeois S; Prud'homme J F; Penet C; Mas J L; Burgunder J M; Hazan J; Weissenbach J; Brice A; Fontaine B
Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.
Brain : a journal of neurology 1996;119 ( Pt 5)():1487-96.
1996: Lindblad K; Savontaus M L; Stevanin G; Holmberg M; Digre K; Zander C; Ehrsson H; David G; Benomar A; Nikoskelainen E; Trottier Y; Holmgren G; Ptacek L J; Anttinen A; Brice A; Schalling M
An expanded CAG repeat sequence in spinocerebellar ataxia type 7.
Genome research 1996;6(10):965-71.
1996: LeGuern E; Guilbot A; Kessali M; Ravisé N; Tassin J; Maisonobe T; Grid D; Brice A
Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33.
Human molecular genetics 1996;5(10):1685-8.
1996: Dürr A; Cossee M; Agid Y; Campuzano V; Mignard C; Penet C; Mandel J L; Brice A; Koenig M
Clinical and genetic abnormalities in patients with Friedreich's ataxia.
The New England journal of medicine 1996;335(16):1169-75.
1996: Frontali M; Sabbadini G; Novelletto A; Jodice C; Naso F; Spadaro M; Giunti P; Jacopini A G; Veneziano L; Mantuano E; Malaspina P; Ulizzi L; Brice A; Durr A; Terrenato L
Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions.
Annals of human genetics 1996;60(Pt 5):423-35.
1996: Boissière F; Pradier L; Delaère P; Faucheux B; Revah F; Brice A; Agid Y; Hirsch E C
Regional and cellular presenilin 2 (STM2) gene expression in the human brain.
Neuroreport 1996;7(12):2021-5.
1996: Campion D; Brice A; Hannequin D; Charbonnier F; Dubois B; Martin C; Michon A; Penet C; Bellis M; Calenda A; Martinez M; Agid Y; Clerget-Darpoux F; Frebourg T
No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.
Journal of medical genetics 1996;33(8):661-4.
1996: Dürr A; Brice A
Genetics of movement disorders.
Current opinion in neurology 1996;9(4):290-7.
1996: Campion D; Brice A; Dumanchin C; Puel M; Baulac M; De La Sayette V; Hannequin D; Duyckaerts C; Michon A; Martin C; Moreau V; Penet C; Martinez M; Clerget-Darpoux F; Agid Y; Frebourg T
A novel presenilin 1 mutation resulting in familial Alzheimer's disease with an onset age of 29 years.
Neuroreport 1996;7(10):1582-4.
1996: Sherrington R; Froelich S; Sorbi S; Campion D; Chi H; Rogaeva E A; Levesque G; Rogaev E I; Lin C; Liang Y; Ikeda M; Mar L; Brice A; Agid Y; Percy M E; Clerget-Darpoux F; Piacentini S; Marcon G; Nacmias B; Amaducci L; Frebourg T; Lannfelt L; Rommens J M; St George-Hyslop P H
Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.
Human molecular genetics 1996;5(7):985-8.
1996: Igarashi S; Takiyama Y; Cancel G; Rogaeva E A; Sasaki H; Wakisaka A; Zhou Y X; Takano H; Endo K; Sanpei K; Oyake M; Tanaka H; Stevanin G; Abbas N; Dürr A; Rogaev E I; Sherrington R; Tsuda T; Ikeda M; Cassa E; Nishizawa M; Benomar A; Julien J; Weissenbach J; Wang G X; Agid Y; St George-Hyslop P H; Brice A; Tsuji S
Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.
Human molecular genetics 1996;5(7):923-32.
1996: Vallat J M; Sindou P; Preux P M; Tabaraud F; Milor A M; Couratier P; LeGuern E; Brice A
Ultrastructural PMP22 expression in inherited demyelinating neuropathies.
Annals of neurology 1996;39(6):813-7.
1996: Lopes J; LeGuern E; Gouider R; Tardieu S; Abbas N; Birouk N; Gugenheim M; Bouche P; Agid Y; Brice A
Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.
American journal of human genetics 1996;58(6):1223-30.
1996: Lezin A; Cancel G; Stevanin G; Smadja D; Vernant J C; Dürr A; Martial J; Buisson G G; Bellance R; Chneiweiss H; Agid Y; Brice A
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): genetic analysis of three unrelated SCA2 families.
Human genetics 1996;97(5):671-6.
1996: Dürr A; Stevanin G; Cancel G; Duyckaerts C; Abbas N; Didierjean O; Chneiweiss H; Benomar A; Lyon-Caen O; Julien J; Serdaru M; Penet C; Agid Y; Brice A
Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.
Annals of neurology 1996;39(4):490-9.
1996: Rouger H; LeGuern E; Gouider R; Tardieu S; Birouk N; Gugenheim M; Bouche P; Agid Y; Brice A
High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients.
American journal of human genetics 1996;58(3):638-41.
1996: Campuzano V; Montermini L; Moltò M D; Pianese L; Cossée M; Cavalcanti F; Monros E; Rodius F; Duclos F; Monticelli A; Zara F; Cañizares J; Koutnikova H; Bidichandani S I; Gellera C; Brice A; Trouillas P; De Michele G; Filla A; De Frutos R; Palau F; Patel P I; Di Donato S; Mandel J L; Cocozza S; Koenig M; Pandolfo M
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Science (New York, N.Y.) 1996;271(5254):1423-7.
1996: Martinez M; Campion D; Babron M C; Hannequin D; Agid Y; Bellis M; Brice A; Mallet J; Michon A; Thomas-Anterion C; Clerget-Darpoux F
Segregation analysis of Alzheimer pedigrees: rare Mendelian dominant mutation(s) explain a minority of early-onset cases. French Alzheimer Collaborative Group.
American journal of medical genetics 1996;67(1):9-12.
1996: Lindblad K; Lunkes A; Maciel P; Stevanin G; Zander C; Klockgether T; Ratzlaff T; Brice A; Rouleau G A; Hudson T; Auburger G; Schalling M
Mutation detection in Machado-Joseph disease using repeat expansion detection.
Molecular medicine (Cambridge, Mass.) 1996;2(1):77-85.
1996: LeGuern E; Gouider R; Ravisé N; Lopes J; Tardieu S; Gugenheim M; Abbas N; Bouche P; Agid Y; Brice A
A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2?
Human molecular genetics 1996;5(1):103-6.
1996: Timmerman V; Löfgren A; Le Guern E; Liang P; De Jonghe P; Martin J J; Verhalle D; Robberecht W; Gouider R; Brice A; Van Broeckhoven C
Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).
Human genetics 1996;97(1):26-34.
1996: Saudou F; Devys D; Trottier Y; Imbert G; Stoeckel M E; Brice A; Mandel J L
Polyglutamine expansions and neurodegenerative diseases.
Cold Spring Harbor symposia on quantitative biology 1996;61():639-47.
1996: Hannequin D; Campion D; Brice A; Frebourg T; Martinez M; Clerget-Darpoux F; Agid Y
[Genetics of Alzheimer's disease]
La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne 1996;17(7):545-50.
1996: Nelis E; Van Broeckhoven C; De Jonghe P; Löfgren A; Vandenberghe A; Latour P; Le Guern E; Brice A; Mostacciuolo M L; Schiavon F; Palau F; Bort S; Upadhyaya M; Rocchi M; Archidiacono N; Mandich P; Bellone E; Silander K; Savontaus M L; Navon R; Goldberg-Stern H; Estivill X; Volpini V; Friedl W; Gal A
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
European journal of human genetics : EJHG 1996;4(1):25-33.
1996: LeGuern E; Ravise N; Gouider R; Gugenheim M; Lopes J; Bouche P; Agid Y; Brice A
Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP): new molecular tools for the study of the region 17p12 --> p11 and for diagnosis.
Cytogenetics and cell genetics 1996;72(1):20-5.
1995: Pérez-Tur J; Campion D; Martinez M; Brice A; Tardieu S; Hannequin D; Agid Y; Delacourte A; Clerget-Darpoux F; Chartier-Harlin M C
Evidence for apolipoprotein E epsilon 4 association in early-onset Alzheimer's patients with late-onset relatives.
American journal of medical genetics 1995;60(6):550-3.
1995: Hannequin D; Campion D; Tardieu S; Auzou P; Martinez M; Dubois B; Clerget-Darpoux F; Agid Y; Brice A
[Phenotype of familial forms of early-onset Alzheimer's disease linked to chromosome 14. Clinical and neuropsychological characteristics of a large group]
Revue neurologique 1995;151(12):682-90.
1995: Campion D; Flaman J M; Brice A; Hannequin D; Dubois B; Martin C; Moreau V; Charbonnier F; Didierjean O; Tardieu S
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.
Human molecular genetics 1995;4(12):2373-7.
1995: Dubourg O; Dürr A; Chneiweiss H; Stevanin G; Cancel G; Penet C; Agid Y; Brice A
[Does the ataxo-choreic form of DRPLA exist in Europe? Search of mutation in 120 families]
Revue neurologique 1995;151(11):657-60.
1995: Gouider R; LeGuern E; Gugenheim M; Tardieu S; Maisonobe T; Léger J M; Vallat J M; Agid Y; Bouche P; Brice A
Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion.
Neurology 1995;45(11):2018-23.
1995: Stevanin G; Cancel G; Didierjean O; Dürr A; Abbas N; Cassa E; Feingold J; Agid Y; Brice A
Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation.
American journal of human genetics 1995;57(5):1247-50.
1995: Stevanin G; Cassa E; Cancel G; Abbas N; Dürr A; Jardim E; Agid Y; Sousa P S; Brice A
Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease.
Journal of medical genetics 1995;32(10):827-30.
1995: Cancel G; Stevanin G; Dürr A; Chneiweiss H; Penet C; Pothin Y; Agid Y; Brice A
SCA2 is not a major locus for ADCA type I in French families.
American journal of medical genetics 1995;60(5):382-5.
1995: Gispert S; Lunkes A; Santos N; Orozco G; Ha-Hao D; Ratzlaff T; Aguiar J; Torrens I; Heredero L; Brice A
Localization of the candidate gene D-amino acid oxidase outside the refined I-cM region of spinocerebellar ataxia 2.
American journal of human genetics 1995;57(4):972-5.
1995: Dürr A; Stevanin G; Cancel G; Abbas N; Chneiweiss H; Agid Y; Feingold J; Brice A
Gender equality in Machado-Joseph disease.
Nature genetics 1995;11(2):118-9.
1995: Carero-Valenzuela R; Lindblad K; Payami H; Johnson W; Schalling M; Stenroos E S; Shattuc S; Nutt J; Brice A; Litt M
No evidence for association of familial Parkinson's disease with CAG repeat expansion.
Neurology 1995;45(9):1760-3.
1995: Campion D; Martinez M; Hannequin D; Brice A; Thomas-Anterion C; Michon A; Babron M C; Dubois B; Goas Y; Jaillard-Serradt A
Characteristics of familial aggregation in early-onset Alzheimer's disease: evidence of subgroups.
American journal of medical genetics 1995;60(3):221-7.
1995: Pêcheux C; Mouret J F; Dürr A; Agid Y; Feingold J; Brice A; Dodé C; Kaplan J C
Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes.
Journal of medical genetics 1995;32(5):399-400.
1995: Brice A; Tardieu S; Campion D; Le Guern E; Martinez M; Carpentier A; Penet C; Dubois B; Bellis M; Mallet J
Allelic association at the D14S43 locus in early onset Alzheimer's disease. French Alzheimer's Disease Collaborative Study Group.
American journal of medical genetics 1995;60(2):91-3.
1995: Dürr A; Dodé C; Hahn V; Pêcheux C; Pillon B; Feingold J; Kaplan J C; Agid Y; Brice A
Diagnosis of "sporadic" Huntington's disease.
Journal of the neurological sciences 1995;129(1):51-5.
1995: Campion D; Martin C; Heilig R; Charbonnier F; Moreau V; Flaman J M; Petit J L; Hannequin D; Brice A; Frebourg T
The NACP/synuclein gene: chromosomal assignment and screening for alterations in Alzheimer disease.
Genomics 1995;26(2):254-7.
1995: Dubourg O; Dürr A; Cancel G; Stevanin G; Chneiweiss H; Penet C; Agid Y; Brice A
Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations.
Annals of neurology 1995;37(2):176-80.
1995: Stevanin G; Cancel G; Dürr A; Chneiweiss H; Dubourg O; Weissenbach J; Cann H M; Agid Y; Brice A
The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2.
American journal of human genetics 1995;56(1):193-201.
1995: Campion D; Brice A; Hannequin D; Tardieu S; Dubois B; Calenda A; Brun E; Penet C; Tayot J; Martinez M
A large pedigree with early-onset Alzheimer's disease: clinical, neuropathologic, and genetic characterization.
Neurology 1995;45(1):80-5.
1995: Lyonnet S; Brice A; Zlotogora J
Israel-France binational symposium on 'hereditary diseases, molecular diagnosis and gene therapy'.
European journal of human genetics : EJHG 1995;3(6):378-81.
1995: Dürr A; Brice A; Lepage-Lezin A; Cancel G; Smadja D; Vernant J C; Agid Y
Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2).
Clinical neuroscience (New York, N.Y.) 1995;3(1):12-6.
1994: Gouider R; LeGuern E; Emile J; Tardieu S; Cabon F; Samid M; Weissenbach J; Agid Y; Bouche P; Brice A
Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities.
Neurology 1994;44(12):2250-2.
1994: Dürr A; Brice A
[Cerebellar ataxia with autosomal dominant transmission]
Revue neurologique 1994;150(10):661-3.
1994: Le Guern E; Ravise N; Gugenheim M; Vignal A; Penet C; Bouche P; Weissenbach J; Agid Y; Brice A
Linkage analyses between dominant X-linked Charcot-Marie-Tooth disease, and 15 Xq11-Xq21 microsatellites in a new large family: three new markers are closely linked to the gene.
Neuromuscular disorders : NMD 1994;4(5-6):463-9.
1994: Belal S; Cancel G; Stevanin G; Hentati F; Khati C; Ben Hamida C; Auburger G; Agid Y; Ben Hamida M; Brice A
Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus.
Neurology 1994;44(8):1423-6.
1994: Dürr A; Brice A; Serdaru M; Rancurel G; Derouesné C; Lyon-Caen O; Agid Y; Fontaine B
The phenotype of "pure" autosomal dominant spastic paraplegia.
Neurology 1994;44(7):1274-7.
1994: Mazzetti P; Le Guern E; Bonnet A M; Vidailhet M; Brice A; Agid Y
Familial Parkinson's disease and polymorphism at the CYP2D6 locus.
Journal of neurology, neurosurgery, and psychiatry 1994;57(7):871-2.
1994: Rodius F; Duclos F; Wrogemann K; Le Paslier D; Ougen P; Billault A; Belal S; Musenger C; Brice A; Dürr A
Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval.
American journal of human genetics 1994;54(6):1050-9.
1994: Benomar A; Le Guern E; Dürr A; Ouhabi H; Stevanin G; Yahyaoui M; Chkili T; Agid Y; Brice A
Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I.
Annals of neurology 1994;35(4):439-44.
1994: Cancel G; Dürr A; Stevanin G; Chneiweiss H; Duyckaerts C; Serdaru M; de Toffol B; Agid Y; Brice A
Is DRPLA also linked to 14q?
Nature genetics 1994;6(1):8.
1993: Dürr A; Chneiweiss H; Khati C; Stevanin G; Cancel G; Feingold J; Agid Y; Brice A
Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity.
Brain : a journal of neurology 1993;116 ( Pt 6)():1497-508.
1993: Dürr A; Stevanin G; Jedynak C P; Penet C; Agid Y; Brice A
Familial essential tremor and idiopathic torsion dystonia are different genetic entities.
Neurology 1993;43(11):2212-4.
1993: Dodé C; Dürr A; Pêcheux C; Mouret J F; Belal S; Bachner L; Agid Y; Kaplan J C; Brice A; Feingold J
Huntington's disease in French families: CAG repeat expansion and linkage disequilibrium analysis.
Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie 1993;316(11):1374-80.
1993: Stevanin G; Chneiweiss H; Le Guern E; Ravise N; Dürr A; Penet C; Agid Y; Brice A
Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus.
Human molecular genetics 1993;2(9):1483-5.
1993: Cancel G; Khati C; Stevanin G; Pages J C; Agid Y; Brice A; Cann H M
Endothelin 1 is not a candidate gene for spinal cerebellar ataxia 1.
Human molecular genetics 1993;2(9):1477-9.
1993: Gispert S; Twells R; Orozco G; Brice A; Weber J; Heredero L; Scheufler K; Riley B; Allotey R; Nothers C
Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1.
Nature genetics 1993;4(3):295-9.
1993: Khati C; Stevanin G; Durr A; Chneiweiss H; Belal S; Seck A; Cann H; Brice A; Agid Y
Genetic heterogeneity of autosomal dominant cerebellar ataxia type 1: clinical and genetic analysis of 10 French families.
Neurology 1993;43(6):1131-7.
1993: Carter D; Campion D; d'Amato T; Jay M; Brice A; Bellis M; Mallet J; Agid Y
No mutation in codon 713 of the amyloid precursor gene in schizophrenic patients.
Human molecular genetics 1993;2(3):321.
1993: Brice A; Boch A L; Stevanin G; Khati C; Dubois B; Agid Y; Campion D; Clerget F; Mallet J; Bellis M
Absence of the amyloid precursor protein gene mutation (APP717: Val->Ile) in 85 cases of early onset Alzheimer's disease.
Journal of neurology, neurosurgery, and psychiatry 1993;56(1):112-3.
1993: Sirugo G; Cocozza S; Brice A; Cavalcanti F; De Michele G; Dones I; Filla A; Koenig M; Lorenzetti D; Monticelli A
Linkage disequilibrium analysis of Friedreich's ataxia in 140 Caucasian families: positioning of the disease locus and evaluation of allelic heterogeneity.
European journal of human genetics : EJHG 1993;1(2):133-43.
1992: Gentil M; Devanne H; Maton B; Brice A
Electromyographic recording of the jaw reflex in Friedreich ataxia.
Electromyography and clinical neurophysiology 1992;32(12):591-5.
1992: Carter D A; Desmarais E; Bellis M; Campion D; Clerget-Darpoux F; Brice A; Agid Y; Jaillard-Serradt A; Mallet J
More missense in amyloid gene.
Nature genetics 1992;2(4):255-6.
1992: Brice A; Ravisé N; Stevanin G; Gugenheim M; Bouche P; Penet C; Agid Y
Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.
Journal of medical genetics 1992;29(11):807-12.
1992: Strada O; Vyas S; Hirsch E C; Ruberg M; Brice A; Agid Y; Javoy-Agid F
Decreased choline acetyltransferase mRNA expression in the nucleus basalis of Meynert in Alzheimer disease: an in situ hybridization study.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(20):9549-53.
1992: Morvan D; Komajda M; Doan L D; Brice A; Isnard R; Seck A; Lechat P; Agid Y; Grosgogeat Y
Cardiomyopathy in Friedreich's ataxia: a Doppler-echocardiographic study.
European heart journal 1992;13(10):1393-8.
1991: Viegas-Péquignot E; Berrard S; Brice A; Apiou F; Mallet J
Localization of a 900-bp-long fragment of the human choline acetyltransferase gene to 10q11.2 by nonradioactive in situ hybridization.
Genomics 1991;9(1):210-2.
1991: Brice A; Mallet J
[Molecular genetics: a new approach of clinical neurosciences]
Revue neurologique 1991;147(1):1-16.
1990: Cohen-Haguenauer O; Brice A; Berrard S; Nguyen V C; Mallet J; Frézal J
Localization of the choline acetyltransferase (CHAT) gene to human chromosome 10.
Genomics 1990;6(2):374-8.
1990: Ruberg M; Mayo W; Brice A; Duyckaerts C; Hauw J J; Simon H; LeMoal M; Agid Y
Choline acetyltransferase activity and [3H]vesamicol binding in the temporal cortex of patients with Alzheimer's disease, Parkinson's disease, and rats with basal forebrain lesions.
Neuroscience 1990;35(2):327-33.

Sign-in to see more

Sign-in free and Explore the Exciting World of BiomedExperts:

NetworkView

Alexis Brice

Research Profile (preview)

Concepts & Ideas

Physiology

Procedures

Disorders

Chemicals & Drugs

Genes & Molecular Sequences

Geographic Areas

Anatomy

Network (preview)

Publications

Sign in free and see...

Visualized networks:

GeoTargeted Searches:

Research Profiles:

Geonetwork of Alexis Brice (preview)

All Publications