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Eric LeGuern

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Elisa Teyssou; François Salachas; Véronique Sazdovitch; Danielle Seilhean; Takahiro Takeda; Guillaume Bataillon; Séverine Boillée; Cécile Cazeneuve; Brahima Doukouré; Vincent Lebon; Eric LeGuern; Vincent Meininger; Stéphanie Millecamps
Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology.
Stéphanie Millecamps; Carine Moigneu; Pierre-François Pradat; Danielle Seilhean; Elisa Teyssou; Nadia Vandenberghe; Séverine Boillée; Alexis Brice; Gaëlle Bruneteau; William Camu; Cécile Cazeneuve; Philippe Corcia; Véronique Danel-Brunaud; Marine Giraudeau; Lucette Lacomblez; Isabelle Le Ber; Nadine Le Forestier; Eric LeGuern; Vincent Meininger; François Salachas
Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes.
Stéphanie Millecamps; Pierre-François Pradat; Danielle Seilhean; Nadia Vandenberghe; Séverine Boillée; Alexis Brice; Gaëlle Bruneteau; William Camu; Cécile Cazeneuve; Philippe Corcia; Véronique Danel-Brunaud; Lucette Lacomblez; Nadine Le Forestier; Eric LeGuern; Vincent Meininger; François Salachas
Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis.

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All Publications

2013: Elisa Teyssou; François Salachas; Véronique Sazdovitch; Danielle Seilhean; Takahiro Takeda; Guillaume Bataillon; Séverine Boillée; Cécile Cazeneuve; Brahima Doukouré; Vincent Lebon; Eric LeGuern; Vincent Meininger; Stéphanie Millecamps
Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology.
Acta neuropathologica 2013;125(4):511-22.
2012: Stéphanie Millecamps; Carine Moigneu; Pierre-François Pradat; Danielle Seilhean; Elisa Teyssou; Nadia Vandenberghe; Séverine Boillée; Alexis Brice; Gaëlle Bruneteau; William Camu; Cécile Cazeneuve; Philippe Corcia; Véronique Danel-Brunaud; Marine Giraudeau; Lucette Lacomblez; Isabelle Le Ber; Nadine Le Forestier; Eric LeGuern; Vincent Meininger; François Salachas
Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes.
Journal of medical genetics 2012;49(4):258-63.
2012: Stéphanie Millecamps; Pierre-François Pradat; Danielle Seilhean; Nadia Vandenberghe; Séverine Boillée; Alexis Brice; Gaëlle Bruneteau; William Camu; Cécile Cazeneuve; Philippe Corcia; Véronique Danel-Brunaud; Lucette Lacomblez; Nadine Le Forestier; Eric LeGuern; Vincent Meininger; François Salachas
Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis.
Neurobiology of aging 2012;33(4):839.e1-3.
2012: Marion Yger; Yves Alembik; Alexis Brice; Cécile Cazeneuve; Andoni Echaniz-Laguna; Samantha Girard; Eric LeGuern; Thierry Maisonobe; Tanya Stojkovic; Sandrine Tardieu; Odile Dubourg
Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.
Journal of the peripheral nervous system : JPNS 2012;17(1):112-22.
2011: Aurelio Hernandez Lain; François Salachas; Danielle Seilhean; Gaëlle Bruneteau; Odile Dubourg; Charles Duyckaerts; Lucette Lacomblez; Eric LeGuern; Jacques Mallet; Vincent Meininger; Stéphanie Millecamps; Pierre-François Pradat
Abnormal TDP-43 and FUS proteins in muscles of sporadic IBM: similarities in a TARDBP-linked ALS patient.
Journal of neurology, neurosurgery, and psychiatry 2011;82(12):1414-6.
2011: Cyril Mignot; Fanny Morice-Picard; Marie-Laure Moutard; Oriane Trouillard; Dorothée Ville; Benoît Arveiler; Perrine Charles; Catherine Chiron; Christel Depienne; Isabelle Gourfinkel-An; Aurélia Jacquette; Didier Lacombe; Eric LeGuern; Delphine Héron
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
Epilepsia 2011;52(10):1820-7.
2011: Cyril Goizet; Didier Hannequin; Didier Lacombe; Eric LeGuern; Stanislas Lyonnet; Marie-Laure Martin-Négrier; Emeline Mundwiller; Elisabeth Ollagnon-Roman; Anne-Marie Ouvrard-Hernandez; Julie Pilliod; Jean-François Pinel; Rodrigue Rossignol; Guilhem Solé; Giovanni Benard; Amir Boukhris; Alexis Brice; Cécile Cazeneuve; Perrine Charles; Isabelle Coupry; Christel Depienne; Alexandra Durr; Christel Dussert; Estelle Fedirko; Imed Feki; Bertrand Fontaine; Sylvie Forlani; Annick Toutain; Jacqueline Yaouanq; Giovanni Stevanin
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
Human mutation 2011;32(10):1118-27.
2011: Philippe Couarch; Christel Depienne; Olivier Dulac; Estelle Fedirko; Svetlana Gataullina; Isabelle Gourfinkel-An; Eric LeGuern; Gaëtan Lesca; Pascual Sanz; Dominique Steschenko; Oriane Trouillard; Santiago Vernia; Stéphanie Baulac
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.
Journal of molecular medicine (Berlin, Germany) 2011;89(9):915-25.
2011: Danielle Seilhean; Isabelle Le Ber; Marie Sarazin; Lucette Lacomblez; Stéphanie Millecamps; François Salachas; Pierre-François Pradat; Nadine Le Forestier; Eric LeGuern; Bruno Dubois; Vincent Meininger; Alexis Brice; JEAN-JACQUES HAUW; Charles Duyckaerts
Fronto-temporal lobar degeneration: neuropathology in 60 cases.
Journal of neural transmission (Vienna, Austria : 1996) 2011;118(5):753-64.
2011: Stéphanie Millecamps; Séverine Boillée; Elodie Chabrol; William Camu; Cécile Cazeneuve; François Salachas; Pierre-François Pradat; Véronique Danel-Brunaud; Nadia Vandenberghe; Philippe Corcia; Nadine Le Forestier; Lucette Lacomblez; Gaëlle Bruneteau; Danielle Seilhean; Alexis Brice; Josué Feingold; Vincent Meininger; Eric LeGuern
Screening of OPTN in French familial amyotrophic lateral sclerosis.
Neurobiology of aging 2011;32(3):557.e11-3.
2011: Fabienne Clot; David Grabli; Pierre Burbaud; Magali Aya; Pascal Derkinderen; Luc Defebvre; Philippe Damier; Pierre Krystkowiak; Pierre Pollak; Eric LeGuern; Chan San; Agnès Camuzat; Emmanuel Roze; Marie Vidailhet; Alexandra Durr; Alexis Brice
Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype.
Neurogenetics 2011;12(1):87-9.
2011: Christel Depienne; Oriane Trouillard; Delphine Bouteiller; Isabelle Gourfinkel-An; Karine Poirier; François Rivier; Patrick Berquin; Rima Nabbout; Denys Chaigne; Dominique Steschenko; Agnès Gautier; Dorota Hoffman-Zacharska; Annie Lannuzel; Marilyn Lackmy-Port-Lis; Hélène Maurey; Anne Dusser; Marie Bru; Brigitte Gilbert-Dussardier; Agathe Roubertie; Anna Kaminska; Sandra Whalen; Cyril Mignot; Stéphanie Baulac; Gaëtan Lesca; Alexis Arzimanoglou; Eric LeGuern
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
Human mutation 2011;32(1):E1959-75.
2010: Elodie Chabrol; Vincent Navarro; Giovanni Provenzano; Ivan Cohen; Céline Dinocourt; Sophie Rivaud-Péchoux; Desdemona Fricker; Michel Baulac; Richard Miles; Eric LeGuern; Stéphanie Baulac
Electroclinical characterization of epileptic seizures in leucine-rich, glioma-inactivated 1-deficient mice.
Brain : a journal of neurology 2010;133(9):2749-62.
2010: Stéphanie Millecamps; François Salachas; Cécile Cazeneuve; Paul Gordon; Bernard Bricka; Agnès Camuzat; Léna Guillot-Noël; Odile Russaouen; Gaëlle Bruneteau; Pierre-François Pradat; Nadine Le Forestier; Nadia Vandenberghe; Véronique Danel-Brunaud; Nathalie Guy; Christel Thauvin-Robinet; Lucette Lacomblez; Philippe Couratier; Didier Hannequin; Danielle Seilhean; Isabelle Le Ber; Philippe Corcia; William Camu; Alexis Brice; Guy Rouleau; Eric LeGuern; Vincent Meininger
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.
Journal of medical genetics 2010;47(8):554-60.
2010: Stéphanie Millecamps; Sandra Da Barroca; Cécile Cazeneuve; François Salachas; Pierre-François Pradat; Véronique Danel-Brunaud; Nadia Vandenberghe; Lucette Lacomblez; Nadine Le Forestier; Gaëlle Bruneteau; William Camu; Alexis Brice; Vincent Meininger; Eric LeGuern
Questioning on the role of D amino acid oxidase in familial amyotrophic lateral sclerosis.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(26):E107; author reply E108.
2010: Christel Depienne; Oriane Trouillard; Isabelle Gourfinkel-An; Cécile Saint-Martin; Delphine Bouteiller; Denis Graber; Marie-Anne Barthez-Carpentier; Agnès Gautier; Nathalie Villeneuve; Charlotte Dravet; Marie-Odile Livet; Clothilde Rivier-Ringenbach; Claude Adam; Sophie Dupont; Stéphanie Baulac; Delphine Héron; Rima Nabbout; Eric LeGuern
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
Journal of medical genetics 2010;47(6):404-10.
2009: Rima Nabbout; Christel Depienne; Mathilde Chipaux; Benoit Girard; Isabelle Souville; Oriane Trouillard; Olivier Dulac; Jamel Chelly; Alexandra Afenjar; Delphine Héron; Eric LeGuern; Cherif Beldjord; Thierry Bienvenu; Nadia Bahi-Buisson
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.
Epilepsy research 2009;87(1):25-30.
2009: Danielle Seilhean; Cécile Cazeneuve; Valérie Thuriès; Odile Russaouen; Stéphanie Millecamps; François Salachas; Vincent Meininger; Eric LeGuern; Charles Duyckaerts
Accumulation of TDP-43 and alpha-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation.
Acta neuropathologica 2009;118(4):561-73.
2009: Christel Depienne; Daniel Moreno-De-Luca; Delphine Heron; Delphine Bouteiller; Aurélie Gennetier; Richard Delorme; Pauline Chaste; Jean-Pierre Siffroi; Sandra Chantot-Bastaraud; Baya Benyahia; Oriane Trouillard; Gudrun Nygren; Svenny Kopp; Maria Johansson; Maria Rastam; Lydie Burglen; Eric LeGuern; Alain Verloes; Marion Leboyer; Alexis Brice; Christopher Gillberg; Catalina Betancur
Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
Biological psychiatry 2009;66(4):349-59.
2009: Fabienne Clot; David Grabli; Cécile Cazeneuve; Emmanuel Roze; Pierre Castelnau; Brigitte Chabrol; Pierre Landrieu; Karine Nguyen; Gérard Ponsot; Myriem Abada; Diane Doummar; Philippe Damier; Roger Gil; Stéphane Thobois; Alana J Ward; Michael Hutchinson; Annick Toutain; Fabienne Picard; Agnès Camuzat; Estelle Fedirko; Chankannira Sân; Delphine Bouteiller; Eric LeGuern; Alexandra Durr; Marie Vidailhet; Alexis Brice
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: Cécile Cazeneuve; Channkanira Sân; Salah A Ibrahim; Maowia M Mukhtar; Musa M Kheir; Eric LeGuern; Alexis Brice; Mustafa A Salih
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: Cécile Saint-Martin; Grégory Gauvain; Georgeta Teodorescu; Isabelle Gourfinkel-An; Estelle Fedirko; Yvonne G Weber; Snezana Maljevic; Jan-Peter Ernst; Jennie Garcia-Olivares; Christoph Fahlke; Rima Nabbout; Eric LeGuern; Holger Lerche; Jean Christophe Poncer; Christel Depienne
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.
Human mutation 2009;30(3):397-405.
2009: Christel Depienne; Oriane Trouillard; C Saint-Martin; Isabelle Gourfinkel-An; D Bouteiller; W Carpentier; B Keren; B Abert; A Gautier; Stéphanie Baulac; Alexis Arzimanoglou; C Cazeneuve; Rima Nabbout; Eric LeGuern
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
Journal of medical genetics 2009;46(3):183-91.
2009: Christel Depienne; Delphine Bouteiller; Boris Keren; Emmanuel Cheuret; Karine Poirier; Oriane Trouillard; Baya Benyahia; Chloé Quelin; Wassila Carpentier; Sophie Julia; Alexandra Afenjar; Agnès Gautier; François Rivier; Sophie Meyer; Patrick Berquin; Marie Hélias; Isabelle Py; Serge Rivera; Nadia Bahi-Buisson; Isabelle Gourfinkel-An; Cécile Cazeneuve; Merle Ruberg; Alexis Brice; Rima Nabbout; Eric LeGuern
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
PLoS genetics 2009;5(2):e1000381.
2009: Bouchra Ouled Amar Ben Cheikh; Stéphanie Baulac; Fatiha Lahjouji; Ahmed Bouhouche; Philippe Couarch; Naima Khalili; Wafae Regragui; Stéphane Lehericy; Merle Ruberg; Ali Benomar; Simon Heath; Taib Chkili; Mohamed Yahyaoui; Mohamed Jiddane; Reda Ouazzani; Eric LeGuern
A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22.
Neurogenetics 2009;10(1):35-42.
2009: Christel Depienne; D Heron; M Leboyer; Eric LeGuern; Oriane Trouillard; Alain Verloes; Baya Benyahia; C Betancur; D Bouteiller; A Brice
Autism, language delay and mental retardation in a patient with 7q11 duplication.
BMJ case reports 2009;2009():.
2008: J El Helou; Vincent Navarro; Christel Depienne; E Fedirko; Eric LeGuern; Michel Baulac; I An-Gourfinkel; Claude Adam
K-complex-induced seizures in autosomal dominant nocturnal frontal lobe epilepsy.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2008;119(10):2201-4.
2008: Stéphanie Baulac; Isabelle Gourfinkel-An; Philippe Couarch; Christel Depienne; Anna Kaminska; Olivier Dulac; Michel Baulac; Eric LeGuern; Rima Nabbout
A novel locus for generalized epilepsy with febrile seizures plus in French families.
Archives of neurology 2008;65(7):943-51.
2007: Elodie Chabrol; Isabelle Gourfinkel-An; Ingrid E Scheffer; Fabienne Picard; Philippe Couarch; Samuel F Berkovic; Jacinta M McMahon; Nandita Bajaj; Luisa Mota-vieira; Rui Mota; Oriane Trouillard; Christel Depienne; Michel Baulac; Eric LeGuern; Stéphanie Baulac
Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy.
Epilepsy research 2007;76(1):41-8.
2007: Christel Depienne; D Heron; C Betancur; B Benyahia; Oriane Trouillard; D Bouteiller; Alain Verloes; Eric LeGuern; M Leboyer; Alexis Brice
Autism, language delay and mental retardation in a patient with 7q11 duplication.
Journal of medical genetics 2007;44(7):452-8.
2007: Alexandre Chojnowski; Nicole Ravisé; Corinne Bachelin; Christel Depienne; Merle Ruberg; Bernard Brugg; Jocelyn Laporte; Anne Baron-Van Evercooren; Eric LeGuern
Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells.
Neurobiology of disease 2007;26(2):323-31.
2007: Rima Nabbout; Stéphanie Baulac; Isabelle Desguerre; Nadia Bahi-Buisson; Catherine Chiron; Merle Ruberg; Olivier Dulac; Eric LeGuern
New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p.
Neurology 2007;68(17):1374-81.
2007: Ahmed Bouhouche; Nazha Birouk; Hamid Azzedine; Ali Benomar; Garry Durosier; Dorothée Ente; Marie-Paule Muriel; Merle Ruberg; Ilham Slassi; Mohamed Yahyaoui; Odile Dubourg; Reda Ouazzani; Eric LeGuern
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
Brain : a journal of neurology 2007;130(Pt 4):1062-75.
2007: Giovanni Stevanin; Filippo M Santorelli; Hamid Azzedine; Paula Coutinho; Jacques Chomilier; Paola S Denora; Elodie Martin; Anne-Marie Ouvrard-Hernandez; Alessandra Tessa; Naima Bouslam; Alexander Lossos; Perrine Charles; José L Loureiro; Nizar Elleuch; Christian Confavreux; Vitor Tedim Cruz; Merle Ruberg; Eric LeGuern; Djamel Grid; Meriem Tazir; Bertrand Fontaine; Alessandro Filla; Enrico Bertini; Alexandra Durr; Alexis Brice
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
Nature genetics 2007;39(3):366-72.
2007: Elodie Chabrol; Cyprian Popescu; Isabelle Gourfinkel-An; Oriane Trouillard; Christel Depienne; Kristen Senechal; Michel Baulac; Eric LeGuern; Stéphanie Baulac
Two novel epilepsy-linked mutations leading to a loss of function of LGI1.
Archives of neurology 2007;64(2):217-22.
2006: Helmut Rauschka; Benoît Colsch; Nicole Baumann; R Wevers; Manfred Schmidbauer; M Krammer; Jean-Claude Turpin; Mireille Lefevre; C Olivier; Sandrine Tardieu; William Krivit; H Moser; Ann B Moser; Volkmar Gieselmann; Bernard Zalc; T Cox; U Reuner; Anna Tylki-Szymanska; Fahmy Aboul-Enein; Eric LeGuern; Hanno Bernheimer; Johannes Berger
Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype.
Neurology 2006;67(5):859-63.
2006: Hamid Azzedine; Nicole Ravisé; Christophe Verny; A Gabrëels-Festen; M Lammens; Djamel Grid; Jean-Michel Vallat; Garry Durosier; Jan Senderek; S Nouioua; Tarik Hamadouche; Ahmed Bouhouche; Angele Guilbot; Claudia Stendel; Merle Ruberg; Alexis Brice; Nazha Birouk; Odile Dubourg; Meriem Tazir; Eric LeGuern
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.
Neurology 2006;67(4):602-6.
2006: Odile Dubourg; Hamid Azzedine; R Ben Yaou; J Pouget; Annie Barois; Vincent Meininger; D Bouteiller; Merle Ruberg; Alexis Brice; Eric LeGuern
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.
Neurology 2006;66(11):1721-6.
2006: Christel Depienne; Alexis Arzimanoglou; Oriane Trouillard; Estelle Fedirko; Stéphanie Baulac; Cécile Saint-Martin; Merle Ruberg; Charlotte Dravet; Rima Nabbout; Michel Baulac; Isabelle Gourfinkel-An; Eric LeGuern
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.
Human mutation 2006;27(4):389.
2006: Odile Dubourg; Hamid Azzedine; Christophe Verny; Garry Durosier; Nazha Birouk; Riadh Gouider; Mustafa A Salih; Ahmed Bouhouche; A Thiam; Djamel Grid; M Mayer; Merle Ruberg; Meriem Tazir; Alexis Brice; Eric LeGuern
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.
Neuromolecular medicine 2006;8(1-2):75-86.
2005: Mourad Naïmi; Sandrine Tardieu; Christel Depienne; Merle Ruberg; Alexis Brice; Odile Dubourg; Eric LeGuern
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: Michel Baulac; Isabelle Gourfinkel-An; Stéphanie Baulac; Eric LeGuern
Myoclonic seizures in the context of generalized epilepsy with febrile seizures plus (GEFS+).
Advances in neurology 2005;95():119-25.
2004: Christophe Verny; Nicole Ravisé; Anne-Louise Leutenegger; F Pouplard; Odile Dubourg; Sandrine Tardieu; Frédéric Dubas; Alexis Brice; Emmanuelle Genin; Eric LeGuern
Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.
Neurology 2004;63(8):1527-9.
2004: Stéphanie Baulac; Isabelle Gourfinkel-An; Rima Nabbout; Gilles Huberfeld; Jose Serratosa; Eric LeGuern; Michel Baulac
Fever, genes, and epilepsy.
Lancet neurology 2004;3(7):421-30.
2004: Isabelle Gourfinkel-An; Stéphanie Baulac; Rima Nabbout; Alexis Brice; Michel Baulac; Eric LeGuern
[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: Isabelle Gourfinkel-An; Stéphanie Baulac; Rima Nabbout; Merle Ruberg; Michel Baulac; Alexis Brice; Eric LeGuern
Monogenic idiopathic epilepsies.
Lancet neurology 2004;3(4):209-18.
2004: C Crest; Sophie Dupont; Eric LeGuern; Claude Adam; Michel Baulac
Levetiracetam in progressive myoclonic epilepsy: an exploratory study in 9 patients.
Neurology 2004;62(4):640-3.
2004: Meriem Tazir; Hamid Azzedine; S Assami; Philippe Sindou; S Nouioua; R Zemmouri; Tarik Hamadouche; Malika Chaouch; JOSUE FEINGOLD; Jean-Michel Vallat; Eric LeGuern; Djamel Grid
Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.
Brain : a journal of neurology 2004;127(Pt 1):154-63.
2003: Rima Nabbout; A Kozlovski; Elena Gennaro; Nadia Bahi-Buisson; Federico Zara; Catherine Chiron; A Bianchi; Alexis Brice; Eric LeGuern; Olivier Dulac
Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy.
Epilepsy research 2003;56(2-3):127-33.
2003: Hamid Azzedine; Merle Ruberg; D Ente; C Gilardeau; S Périé; B Wechsler; Alexis Brice; Eric LeGuern; Odile Dubourg
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: Hamid Azzedine; Alessandra Bolino; T Taïeb; Nazha Birouk; Marco Di Duca; Ahmed Bouhouche; S Benamou; Amel Mrabet; Tarik Hammadouche; Taïeb Chkili; Riadh Gouider; Roberto Ravazzolo; Alexis Brice; Jocelyn Laporte; Eric LeGuern
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: Nicole Ravisé; Odile Dubourg; Sandrine Tardieu; Françoise Aurias; Monique Mercadiel; Philippe Coullin; Merle Ruberg; Martin Catala; Sylvie Lesourd; Alexis Brice; Eric LeGuern
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.
2002: Rima Nabbout; Jean-François Prud'homme; Alexandra Herman; JOSUE FEINGOLD; Alexis Brice; Olivier Dulac; Eric LeGuern
A locus for simple pure febrile seizures maps to chromosome 6q22-q24.
Brain : a journal of neurology 2002;125(Pt 12):2668-80.
2002: Bruno Moulard; Pierre Genton; Djamel Grid; Marc Jeanpierre; Reda Ouazzani; Amel Mrabet; Mike Morris; Eric LeGuern; Charlotte Dravet; François Mauguière; Barbara Utermann; Michel Baldy-Moulinier; Halima Belaidi; Françoise Bertran; Arnaud Biraben; André Ali Chérif; Taïeb Chkili; Arielle Crespel; Françoise Darcel; Olivier Dulac; Christian Geny; Véronique Humbert-Claude; Philippe Kassiotis; Catherine Buresi; Alain Malafosse
Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.
Human genetics 2002;111(3):255-62.
2002: Sylvie Dejager; H Bry-Gauillard; Eric Bruckert; B Eymard; F Salachas; Eric LeGuern; Sandrine Tardieu; Rita Chadarevian; Philippe Giral; Gérard Turpin
A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length.
The Journal of clinical endocrinology and metabolism 2002;87(8):3893-901.
2002: Pierre Labauge; L O Amer; Marion Simonetta-Moreau; F Attané; C Tannier; Michel Clanet; Giovanni Castelnovo; I An-Gourfinkel; Yves Agid; Alexis Brice; Anne Ducros; Eric LeGuern
Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME).
Neurology 2002;58(6):941-4.
2002: Hiroto Fujigasaki; Sandrine Tardieu; Agnès Camuzat; Giovanni Stevanin; Eric LeGuern; Tohru Matsuura; Tetsuo Ashizawa; Alexandra Dürr; Alexis Brice
Spinocerebellar ataxia type 10 in the French population.
Annals of neurology 2002;51(3):408-9.
2002: Emma E Moore; Scott Presnell; Ursula Garrigues; Angele Guilbot; Eric LeGuern; Deborah Smith; Lena Yao; Theodore E Whitmore; Teresa Gilbert; Theo D Palmer; Philip J Horner; Rolf E Kuestner
Expression of IL-17B in neurons and evaluation of its possible role in the chromosome 5q-linked form of Charcot-Marie-Tooth disease.
Neuromuscular disorders : NMD 2002;12(2):141-50.
2002: Ana Cuesta; Laia Pedrola; Teresa Sevilla; Javier Garcia-Planells; María José Chumillas; Fernando Mayordomo; Eric LeGuern; Ignacio Marin; Juan J Vílchez; Francesc Palau
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.
Nature genetics 2002;30(1):22-5.
2001: Odile Dubourg; Sandrine Tardieu; Nazha Birouk; Riadh Gouider; Jean-Marc Léger; Thierry Maisonobe; Alexis Brice; Pierre Bouche; Eric LeGuern
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: T Moore; S Hecquet; A McLellann; D Ville; Djamel Grid; F Picard; Bruno Moulard; Philip Asherson; Andrew Makoff; David McCormick; Lina Nashef; philippe froguel; Alexis Arzimanoglou; Eric LeGuern; B Bailleul
Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME.
Epilepsy research 2001;46(2):157-67.
2001: Odile Dubourg; Sandrine Tardieu; Nazha Birouk; Riadh Gouider; Jean-Marc Léger; Thierry Maisonobe; Alexis Brice; Pierre Bouche; Eric LeGuern
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: Stéphanie Baulac; Fabienne Picard; A Herman; JOSUE FEINGOLD; Emmanuelle Genin; Etienne C Hirsch; Jean-F Prud'homme; Michel Baulac; Alexis Brice; Eric LeGuern
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: Stéphanie Baulac; Gilles Huberfeld; Isabelle Gourfinkel-An; Georgia Mitropoulou; A Beranger; Jean-F Prud'homme; Michel Baulac; Alexis Brice; Roberto Bruzzone; Eric LeGuern
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: Isabelle Gourfinkel-An; Eric LeGuern; Stéphanie Baulac; A Brice; M Baulac
Genetics of inherited human epilepsies.
Dialogues in clinical neuroscience 2001;3(1):47-57.
2001: Angele Guilbot; A Williams; Nicole Ravisé; Christophe Verny; Alexis Brice; Diane L Sherman; Peter J Brophy; Eric LeGuern; Valérie Delague; Corinne Bareil; André Mégarbané; Mireille Claustres
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.
2000: Odile Dubourg; C Barhoumi; Hamid Azzedine; Nazha Birouk; Alexis Brice; Pierre Bouche; Eric LeGuern
Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness.
Muscle & nerve 2000;23(10):1508-14.
2000: F Picard; Stéphanie Baulac; P Kahane; Etienne C Hirsch; R Sebastianelli; P Thomas; Federico Vigevano; P Genton; Renzo Guerrini; C A Gericke; I An; G Rudolf; A Herman; Alexis Brice; C Marescaux; Eric LeGuern
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: Alessandra Bolino; Maria Muglia; Francesca Luisa Conforti; Eric LeGuern; Mustafa Salih; Domna-Maria Georgiou; Kyproula Christodoulou; I Hausmanowa-Petrusewicz; Paola Mandich; Angelo Schenone; A Gambardella; Francesco Bono; A Quattrone; Marcella Devoto; Anthony P Monaco
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
Nature genetics 2000;25(1):17-9.
2000: Andrew Escayg; Bryan T MacDonald; Miriam H Meisler; Stéphanie Baulac; Gilles Huberfeld; I An-Gourfinkel; Alexis Brice; Eric LeGuern; Bruno Moulard; D Chaigne; Catherine Buresi; Alain Malafosse
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
Nature genetics 2000;24(4):343-5.
2000: Rafaëlle Bernard; Véronique Labelle; P Negre; Sandrine Tardieu; J P Azulay; Perrine Malzac; J F Mattéi; Eric LeGuern; Nicole Philip; Nicolas Lévy
Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A.
European journal of human genetics : EJHG 2000;8(3):229-35.
2000: Odile Dubourg; P Mouton; Alexis Brice; Eric LeGuern; Pierre Bouche
Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies.
Neuromuscular disorders : NMD 2000;10(3):206-8.
2000: Alessandra Bolino; ER Levy; Maria Muglia; Francesca Luisa Conforti; Eric LeGuern; Mustafa Salih; Domna-Maria Georgiou; Kyproula Christodoulou; I Hausmanowa-Petrusewicz; Paola Mandich; A Gambardella; A Quattrone; Marcella Devoto; Anthony P Monaco
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.
Genomics 2000;63(2):271-8.
2000: Mustafa A Salih; Thierry Maisonobe; Mohammad M Kabiraj; Molham M Al-Rayess; MH Al-Turaiki; M Akbar; A Tahan; J Andoni Urtizberea; Djamel Grid; Tarik Hamadouche; Angele Guilbot; Alexis Brice; Eric LeGuern
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.
1999: Angele Guilbot; Nicole Ravisé; Ahmed Bouhouche; Philippe Coullin; Nazha Birouk; Thierry Maisonobe; Thierry Kuntzer; C Vial; Djamel Grid; Alexis Brice; Eric LeGuern
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: J Lopes; Sandrine Tardieu; K Silander; I Blair; Antoon Vandenberghe; Francesc Palau; Merle Ruberg; Alexis Brice; Eric LeGuern
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: Stéphanie Baulac; Isabelle Gourfinkel-An; Fabienne Picard; M Rosenberg-Bourgin; Jean-F Prud'homme; Michel Baulac; Alexis Brice; Eric LeGuern
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: Angele Guilbot; M Kessali; Nicole Ravisé; Tarik Hammadouche; Ahmed Bouhouche; Thierry Maisonobe; Djamel Grid; Alexis Brice; Eric LeGuern
The autosomal recessive form of CMT disease linked to 5q31-q33.
Annals of the New York Academy of Sciences 1999;883():453-6.
1999: Angele Guilbot; M Kessali; Nicole Ravisé; Tarik Hammadouche; Ahmed Bouhouche; Thierry Maisonobe; Djamel Grid; Alexis Brice; Eric LeGuern
The autosomal recessive form of CMT disease linked to 5q31-q33.
Annals of the New York Academy of Sciences 1999;883():56-9.
1999: Ahmed Bouhouche; Ali Benomar; Nazha Birouk; A Mularoni; Farid Meggouh; JP Tassin; Djamel Grid; Antoon Vandenberghe; Mohamed Yahyaoui; Taïeb Chkili; Alexis Brice; Eric LeGuern
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: P Mouton; Sandrine Tardieu; Riadh Gouider; Nazha Birouk; Thierry Maisonobe; Odile Dubourg; Alexis Brice; Eric LeGuern; Pierre Bouche
Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion.
Neurology 1999;52(7):1440-6.
1999: HZ Ring; H Chang; Angele Guilbot; Alexis Brice; Eric LeGuern; Uta Francke
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.
1998: Nazha Birouk; Eric LeGuern; Thierry Maisonobe; H Rouger; Riadh Gouider; Sandrine Tardieu; M Gugenheim; MC Routon; Jean-Marc Léger; Yves Agid; Alexis Brice; Pierre Bouche
X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.
Neurology 1998;50(4):1074-82.
1998: Farid Meggouh; Ali Benomar; H Rouger; Sandrine Tardieu; Nazha Birouk; JP Tassin; C Barhoumi; Mohamed Yahyaoui; Taïeb Chkili; Alexis Brice; Eric LeGuern
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: J Lopes; Nicole Ravisé; Antoon Vandenberghe; Francesc Palau; V Ionasescu; M Mayer; Nicolas Lévy; Nicholas W Wood; N Tachi; Pierre Bouche; Philippe Latour; Merle Ruberg; Alexis Brice; Eric LeGuern
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.
1997: J Lopes; Antoon Vandenberghe; Sandrine Tardieu; V Ionasescu; Nicolas Lévy; Nicholas W Wood; N Tachi; Pierre Bouche; Philippe Latour; Alexis Brice; Eric LeGuern
Sex-dependent rearrangements resulting in CMT1A and HNPP.
Nature genetics 1997;17(2):136-7.
1997: Nadine Le Forestier; Eric LeGuern; Philippe Coullin; Nazha Birouk; Thierry Maisonobe; Alexis Brice; Jean-Marc Léger; Pierre Bouche
Recurrent polyradiculoneuropathy with the 17p11.2 deletion.
Muscle & nerve 1997;20(9):1184-6.
1997: A Hanash; Eric LeGuern; Nazha Birouk; Olivier Clermont; J Pouget; Pierre Bouche; Arnold Munnich; Alexis Brice; Judith Melki
SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.
Journal of medical genetics 1997;34(6):507-8.
1997: M Kessali; R Zemmouri; Angele Guilbot; Thierry Maisonobe; Alexis Brice; Eric LeGuern; Djamel Grid
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: H Rouger; Eric LeGuern; Nazha Birouk; Riadh Gouider; Sandrine Tardieu; Emmanuelle Plassart-Schiess; M Gugenheim; Jean-Michel Vallat; Jean-Pierre Louboutin; Pierre Bouche; Yves Agid; Alexis Brice
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.
1997: Eric LeGuern; Riadh Gouider; D Mabin; Sandrine Tardieu; Nazha Birouk; P Parent; Pierre Bouche; Alexis Brice
Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease.
Annals of neurology 1997;41(1):104-8.
1996: Eric LeGuern; Angele Guilbot; M Kessali; Nicole Ravisé; JP Tassin; Thierry Maisonobe; Djamel Grid; Alexis Brice
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: J Lopes; Eric LeGuern; Riadh Gouider; Sandrine Tardieu; Nacer Abbas; Nazha Birouk; M Gugenheim; Pierre Bouche; Yves Agid; Alexis Brice
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: H Rouger; Eric LeGuern; Riadh Gouider; Sandrine Tardieu; Nazha Birouk; M Gugenheim; Pierre Bouche; Yves Agid; Alexis Brice
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: Stéphane Hunot; Véronique Bernard; Baptiste A Faucheux; F Boissière; Eric LeGuern; C Brana; P P Gautris; J Guérin; Bertrand Bloch; Yves Agid; Etienne C Hirsch
Glial cell line-derived neurotrophic factor (GDNF) gene expression in the human brain: a post mortem in situ hybridization study with special reference to Parkinson's disease.
Journal of neural transmission (Vienna, Austria : 1996) 1996;103(8-9):1043-52.
1996: Eric LeGuern; Riadh Gouider; Nicole Ravisé; J Lopes; Sandrine Tardieu; M Gugenheim; Nacer Abbas; Pierre Bouche; Yves Agid; Alexis Brice
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: Eric LeGuern; N Ravise; Riadh Gouider; M Gugenheim; J Lopes; Pierre Bouche; Yves Agid; Alexis Brice
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: Riadh Gouider; Eric LeGuern; M Gugenheim; Sandrine Tardieu; Thierry Maisonobe; Jean-Marc Léger; Jean-Michel Vallat; Yves Agid; Pierre Bouche; Alexis Brice
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: Eric LeGuern; Riadh Gouider; J Lopes; Nacer Abbas; M Gugenheim; Sandrine Tardieu; Nicole Ravisé; Jean-Marc Léger; Jean-Michel Vallat; Pierre Bouche
Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases. The French CMT Collaborative Research Group.
Human molecular genetics 1995;4(9):1673-4.
1995: Ali Benomar; Luc Krols; Giovanni Stevanin; G Cancel; Eric LeGuern; G David; H Ouhabi; Jean-Jacques Martin; Alexandra Dürr; A Zaim
The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1.
Nature genetics 1995;10(1):84-8.
1994: Riadh Gouider; Eric LeGuern; J Emile; Sandrine Tardieu; F Cabon; M Samid; Jean Weissenbach; Yves Agid; Pierre Bouche; Alexis Brice
Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities.
Neurology 1994;44(12):2250-2.