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Pascale Guicheney

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)

Disorders

Physiology

Concepts & Ideas

Anatomy

Skeletal Muscle

Chemicals & Drugs

Procedures

Devices

Electrocardiography

Phenomena

Single-Stranded Conformational Polymorphism

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Publications

TOP 3
Lescure Alain; Rederstorff Mathieu; Krol Alain; Guicheney Pascale; Allamand Valérie
Selenoprotein function and muscle disease.
Bitoun Marc; Durieux Anne-Cécile; Prudhon Bernard; Bevilacqua Jorge A; Herledan Adrien; Sakanyan Vehary; Urtizberea Andoni; Cartier Luis; Romero Norma B; Guicheney Pascale
Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.
Yanagisawa Akiko; Bouchet Céline; Quijano-Roy Susana; Vuillaumier-Barrot Sandrine; Clarke Nigel; Odent Sylvie; Rodriguez Diana; Romero Norma B; Osawa Makiko; Endo Tamao; Lia Taratuto Ana; Seta Nathalie; Guicheney Pascale
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.

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All Publications

2009: Lescure Alain; Rederstorff Mathieu; Krol Alain; Guicheney Pascale; Allamand Valérie
Selenoprotein function and muscle disease.
Biochimica et biophysica acta 2009;1790(11):1569-74.
2009: Bitoun Marc; Durieux Anne-Cécile; Prudhon Bernard; Bevilacqua Jorge A; Herledan Adrien; Sakanyan Vehary; Urtizberea Andoni; Cartier Luis; Romero Norma B; Guicheney Pascale
Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.
Human mutation 2009;30(10):1419-27.
2009: Yanagisawa Akiko; Bouchet Céline; Quijano-Roy Susana; Vuillaumier-Barrot Sandrine; Clarke Nigel; Odent Sylvie; Rodriguez Diana; Romero Norma B; Osawa Makiko; Endo Tamao; Lia Taratuto Ana; Seta Nathalie; Guicheney Pascale
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
European journal of medical genetics 2009;52(4):201-6.
2009: Hayashi Meiso; Denjoy Isabelle; Extramiana Fabrice; Maltret Alice; Buisson Nathalie Roux; Lupoglazoff Jean-Marc; Klug Didier; Hayashi Miyuki; Takatsuki Seiji; Villain Elisabeth; Kamblock Joël; Messali Anne; Guicheney Pascale; Lunardi Joël; Leenhardt Antoine
Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia.
Circulation 2009;119(18):2426-34.
2009: Vuillaumier-Barrot S; Quijano-Roy S; Bouchet-Seraphin C; Maugenre S; Peudenier S; Van den Bergh P; Marcorelles P; Avila-Smirnow D; Chelbi M; Romero N B; Carlier R Y; Estournet B; Guicheney P; Seta N
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.
Neuromuscular disorders : NMD 2009;19(3):182-8.
2009: Bevilacqua Jorge A; Bitoun Marc; Biancalana Valérie; Oldfors Anders; Stoltenburg Gisela; Claeys Kristl G; Lacène Emmanuelle; Brochier Guy; Manéré Linda; Laforêt Pascal; Eymard Bruno; Guicheney Pascale; Fardeau Michel; Romero Norma Beatriz
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.
Acta neuropathologica 2009;117(3):283-91.
2009: Maiti Baijayanta; Arbogast Sandrine; Allamand Valérie; Moyle Mark W; Anderson Christine B; Richard Pascale; Guicheney Pascale; Ferreiro Ana; Flanigan Kevin M; Howard Michael T
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.
Human mutation 2009;30(3):411-6.
2009: Bitoun M; Bevilacqua J A; Eymard B; Prudhon B; Fardeau M; Guicheney P; Romero N B
A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation.
Neurology 2009;72(1):93-5.
2009: Makri Samira; Clarke Nigel F; Richard Pascale; Maugenre Svetlana; Demay Laurence; Bonne Gisèle; Guicheney Pascale
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.
Neuromuscular disorders : NMD 2009;19(1):26-8.
2009: Castets Perrine; Maugenre Svetlana; Gartioux Corine; Rederstorff Mathieu; Krol Alain; Lescure Alain; Tajbakhsh Shahragim; Allamand Valérie; Guicheney Pascale
Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors.
BMC developmental biology 2009;9():46.
2008: Quijano-Roy Susana; Mbieleu Blaise; Bönnemann Carsten G; Jeannet Pierre-Yves; Colomer Jaume; Clarke Nigel F; Cuisset Jean-Marie; Roper Helen; De Meirleir Linda; D'Amico Adele; Ben Yaou Rabah; Nascimento Andrés; Barois Annie; Demay Laurence; Bertini Enrico; Ferreiro Ana; Sewry Caroline A; Romero Norma B; Ryan Monique; Muntoni Francesco; Guicheney Pascale; Richard Pascale; Bonne Gisèle; Estournet Brigitte
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
Annals of neurology 2008;64(2):177-86.
2008: Bitoun Marc; Stojkovic Tanya; Prudhon Bernard; Maurage Claude-Alain; Latour Philippe; Vermersch Patrick; Guicheney Pascale
A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings.
Neuromuscular disorders : NMD 2008;18(4):334-8.
2008: Allamand Valérie; Bidou Laure; Arakawa Masayuki; Floquet Célia; Shiozuka Masataka; Paturneau-Jouas Marion; Gartioux Corine; Butler-Browne Gillian S; Mouly Vincent; Rousset Jean-Pierre; Matsuda Ryoichi; Ikeda Daishiro; Guicheney Pascale
Drug-induced readthrough of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubes.
The journal of gene medicine 2008;10(2):217-24.
2008: Six Isabelle; Hermida Jean-Sylvain; Huang Hai; Gouas Laetitia; Fressart Véronique; Benammar Nawal; Hainque Bernard; Denjoy Isabelle; Chahine Mohamed; Guicheney Pascale
The occurrence of Brugada syndrome and isolated cardiac conductive disease in the same family could be due to a single SCN5A mutation or to the accidental association of both diseases.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2008;10(1):79-85.
2008: Rederstorff M; Allamand V; Guicheney P; Gartioux C; Richard P; Chaigne D; Krol A; Lescure A
Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon.
Nucleic acids research 2008;36(1):237-44.
2008: Manya Hiroshi; Bouchet Céline; Yanagisawa Akiko; Vuillaumier-Barrot Sandrine; Quijano-Roy Susana; Suzuki Yasushi; Maugenre Svetlana; Richard Pascale; Inazu Toshiyuki; Merlini Luciano; Romero Norma B; Leturcq France; Bezier Isabelle; Topaloglu Haluk; Estournet Brigitte; Seta Nathalie; Endo Tamao; Guicheney Pascale
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
Neuromuscular disorders : NMD 2008;18(1):45-51.
2007: Bitoun Marc; Bevilacqua Jorge A; Prudhon Bernard; Maugenre Svetlana; Taratuto Ana Lia; Monges Soledad; Lubieniecki Fabiana; Cances Claude; Uro-Coste Emmanuelle; Mayer Michèle; Fardeau Michel; Romero Norma B; Guicheney Pascale
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
Annals of neurology 2007;62(6):666-70.
2007: Voermans N C; Jenniskens G J; Hamel B C; Schalkwijk J; Guicheney P; van Engelen B G
Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies.
American journal of medical genetics. Part A 2007;143A(18):2215-9.
2007: Yanagisawa A; Bouchet C; Van den Bergh P Y K; Cuisset J-M; Viollet L; Leturcq F; Romero N B; Quijano-Roy S; Fardeau M; Seta N; Guicheney P
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
Neurology 2007;69(12):1254-60.
2007: Gouas L; Nicaud V; Chaouch S; Berthet M; Forhan A; Tichet J; Tiret L; Balkau B; Guicheney P
Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects.
European journal of human genetics : EJHG 2007;15(9):974-9.
2007: Denjoy I; Lupoglazoff J-M; Villain E; Vaksmann G; Godart F; Lucet V; Leenhardt A; Guicheney P; Schwartz P
[The Jervell and Lange-Nielsen syndrome. Natural history, molecular basis and clinical outcome]
Archives des maladies du coeur et des vaisseaux 2007;100(5):359-64.
2007: Carmignac Virginie; Salih Mustafa A M; Quijano-Roy Susana; Marchand Sylvie; Al Rayess Molham M; Mukhtar Maowia M; Urtizberea Jon A; Labeit Siegfried; Guicheney Pascale; Leturcq France; Gautel Mathias; Fardeau Michel; Campbell Kevin P; Richard Isabelle; Estournet Brigitte; Ferreiro Ana
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
Annals of neurology 2007;61(4):340-51.
2007: Jungbluth Heinz; Zhou Haiyan; Sewry Caroline A; Robb Stephanie; Treves Susan; Bitoun Marc; Guicheney Pascale; Buj-Bello Anna; Bönnemann Carsten; Muntoni Francesco
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.
Neuromuscular disorders : NMD 2007;17(4):338-45.
2007: Mohler Peter J; Le Scouarnec Solena; Denjoy Isabelle; Lowe John S; Guicheney Pascale; Caron Lise; Driskell Iwona M; Schott Jean-Jacques; Norris Kris; Leenhardt Antoine; Kim Richard B; Escande Denis; Roden Dan M
Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes.
Circulation 2007;115(4):432-41.
2007: Siala Olfa; Louhichi Nacim; Triki Chahnez; Morinière Madeleine; Rebai Ahmed; Richard Pascale; Guicheney Pascale; Baklouti Faouzi; Fakhfakh Faiza
Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level.
Genetic testing 2007;11(3):199-207.
2006: Imboden Medea; Swan Heikki; Denjoy Isabelle; Van Langen Irene Marijke; Latinen-Forsblom Päivi Johanna; Napolitano Carlo; Fressart Véronique; Breithardt Guenter; Berthet Myriam; Priori Silvia; Hainque Bernard; Wilde Arthur Arnold Maria; Schulze-Bahr Eric; Feingold Josué; Guicheney Pascale
Female predominance and transmission distortion in the long-QT syndrome.
The New England journal of medicine 2006;355(26):2744-51.
2006: Fischer D; Herasse M; Ferreiro A; Barragán-Campos H M; Chiras J; Viollet L; Maugenre S; Leroy J-P; Monnier N; Lunardi J; Guicheney P; Fardeau M; Romero N B
Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene.
Neurology 2006;67(12):2217-20.
2006: Choe Chi-un; Schulze-Bahr Eric; Neu Axel; Xu Jun; Zhu Zheng I; Sauter Kathrin; Bähring Robert; Priori Silvia; Guicheney Pascale; Mönnig Gerold; Neapolitano Carlo; Heidemann Jan; Clancy Colleen E; Pongs Olaf; Isbrandt Dirk
C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilon.
Human molecular genetics 2006;15(19):2888-902.
2006: Fischer Dirk; Herasse Muriel; Bitoun Marc; Barragán-Campos Héctor M; Chiras Jacques; Laforêt Pascal; Fardeau Michel; Eymard Bruno; Guicheney Pascale; Romero Norma B
Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.
Brain : a journal of neurology 2006;129(Pt 6):1463-9.
2006: van Reeuwijk Jeroen; Maugenre Svetlana; van den Elzen Christa; Verrips Aad; Bertini Enrico; Muntoni Francesco; Merlini Luciano; Scheffer Hans; Brunner Han G; Guicheney Pascale; van Bokhoven Hans
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
Human mutation 2006;27(5):453-9.
2006: Quijano-Roy Susana; Martí-Carrera Itxaso; Makri Samira; Mayer Michèle; Maugenre Svetlana; Richard Pascale; Berard Carole; Viollet Louis; Leheup Bruno; Guicheney Pascale; Pinard Jean-Marc; Estournet Brigitte; Carlier Robert Y
Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
Brain & development 2006;28(4):232-42.
2006: Allamand Valérie; Richard Pascale; Lescure Alain; Ledeuil Céline; Desjardin Delphine; Petit Nathalie; Gartioux Corine; Ferreiro Ana; Krol Alain; Pellegrini Nadine; Urtizberea J Andoni; Guicheney Pascale
A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy.
EMBO reports 2006;7(4):450-4.
2006: Taniguchi Mariko; Kurahashi Hiroki; Noguchi Satoru; Sese Jun; Okinaga Takeshi; Tsukahara Toshifumi; Guicheney Pascale; Ozono Keiichi; Nishino Ichizo; Morishita Shinichi; Toda Tatsushi
Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?
Biochemical and biophysical research communications 2006;342(2):489-502.
2006: Clarke Nigel F; Kidson Warren; Quijano-Roy Susana; Estournet Brigitte; Ferreiro Ana; Guicheney Pascale; Manson James I; Kornberg Andrew J; Shield Lloyd K; North Kathryn N
SEPN1: associated with congenital fiber-type disproportion and insulin resistance.
Annals of neurology 2006;59(3):546-52.
2006: Bitoun Marc; Romero Norma B; Guicheney Pascale
[Mutations in dynamin 2 cause dominant centronuclear myopathy]
Médecine sciences : M/S 2006;22(2):101-2.
2006: Pepe Guglielmina; Lucarini Laura; Zhang Rui-Zhu; Pan Te-Cheng; Giusti Betti; Quijano-Roy Susana; Gartioux Corine; Bushby Katharine M D; Guicheney Pascale; Chu Mon-Li
COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy.
Annals of neurology 2006;59(1):190-5.
2006: Squarzoni Stefano; Sabatelli Patrizia; Bergamin Natascha; Guicheney Pascale; Demir Ercan; Merlini Luciano; Lattanzi Giovanna; Ognibene Andrea; Capanni Cristina; Mattioli Elisabetta; Columbaro Marta; Bonaldo Paolo; Maraldi Nadir Mario
Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains.
Journal of cellular physiology 2006;206(1):160-6.
2006: Louhichi N; Richard P; Triki C H; Meziou M; Ayadi H; Guicheney P; Fakhfakh F
Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families.
Archives de l'Institut Pasteur de Tunis 2006;83(1-4):19-23.
2005: Postma A V; Denjoy I; Kamblock J; Alders M; Lupoglazoff J-M; Vaksmann G; Dubosq-Bidot L; Sebillon P; Mannens M M A M; Guicheney P; Wilde A A M
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.
Journal of medical genetics 2005;42(11):863-70.
2005: Bitoun Marc; Maugenre Svetlana; Jeannet Pierre-Yves; Lacène Emmanuelle; Ferrer Xavier; Laforêt Pascal; Martin Jean-Jacques; Laporte Jocelyn; Lochmüller Hanns; Beggs Alan H; Fardeau Michel; Eymard Bruno; Romero Norma B; Guicheney Pascale
Mutations in dynamin 2 cause dominant centronuclear myopathy.
Nature genetics 2005;37(11):1207-9.
2005: Gouas Laetitia; Nicaud Viviane; Berthet Myriam; Forhan Anne; Tiret Laurence; Balkau Beverley; Guicheney Pascale;
Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.
European journal of human genetics : EJHG 2005;13(11):1213-22.
2005: Romero N B; Herasse M; Monnier N; Leroy J P; Fischer D; Ferreiro A; Viollet L; Eymard B; Laforêt P; Monges S; Lubieniecki F; Taratuto A L; Guicheney P; Lunardi J; Fardeau M
Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2005;24(2):70-3.
2005: Vainzof Mariz; Richard Pascale; Herrmann Ralf; Jimenez-Mallebrera Cecilia; Talim Beril; Yamamoto Lydia U; Ledeuil Céline; Mein Rachael; Abbs Stephen; Brockington Martin; Romero Norma B; Zatz Mayana; Topaloglu Haluk; Voit Thomas; Sewry Caroline; Muntoni Francesco; Guicheney Pascale; Tomé Fernando M S
Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.
Neuromuscular disorders : NMD 2005;15(9-10):588-94.
2005: Keller Dagmar I; Barrane Fatima-Zahara; Gouas Laetitia; Martin Johannie; Pilote Sylvie; Suarez Vivian; Osswald Stefan; Brink Marijke; Guicheney Pascale; Schwick Nicola; Chahine Mohamed
A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier state.
The Canadian journal of cardiology 2005;21(11):925-31.
2005: Giusti Betti; Lucarini Laura; Pietroni Valentina; Lucioli Simona; Bandinelli Brunella; Sabatelli Patrizia; Squarzoni Stefano; Petrini Stefania; Gartioux Corine; Talim Beril; Roelens Filip; Merlini Luciano; Topaloglu Haluk; Bertini Enrico; Guicheney Pascale; Pepe Guglielmina
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.
Annals of neurology 2005;58(3):400-10.
2005: D'Amico A; Haliloglu G; Richard P; Talim B; Maugenre S; Ferreiro A; Guicheney P; Menditto I; Benedetti S; Bertini E; Bonne G; Topaloglu H
Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.
Neuromuscular disorders : NMD 2005;15(8):521-4.
2005: Keller Dagmar I; Rougier Jean-Sébastien; Kucera Jan P; Benammar Nawal; Fressart Véronique; Guicheney Pascale; Madle Alois; Fromer Martin; Schläpfer Jürg; Abriel Hugues
Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations.
Cardiovascular research 2005;67(3):510-9.
2005: Denjoy I; Postma A; Lupoglazoff J M; Vaksman G; Kamblock J; Leenhardt A; Wilde A A; Guicheney P
[Catecholinergic ventricular tachycardia in children]
Archives des maladies du coeur et des vaisseaux 2005;98(5):506-12.
2005: Extramiana Fabrice; Denjoy Isabelle; Badilini Fabio; Chabani Iheb; Neyroud Nathalie; Berthet Myriam; Fressard Véronique; Guicheney Pascale; Beaufils Philippe; Leenhardt Antoine; Coumel Philippe; Maison-Blanche Pierre
Heart rate influences on repolarization duration and morphology in symptomatic versus asymptomatic KCNQ1 mutation carriers.
The American journal of cardiology 2005;95(3):406-9.
2004: Jungbluth Heinz; Beggs Alan; Bönnemann Carsten; Bushby Kate; Ceuterick-de Groote Chantal; Estournet-Mathiaud Brigitte; Goemans Nathalie; Guicheney Pascale; Lescure Alain; Lunardi Joël; Muntoni Francesco; Quinlivan Ros; Sewry Caroline; Straub Volker; Treves Susan; Ferreiro Ana
111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2004;14(11):754-66.
2004: Villain E; Denjoy I; Lupoglazoff J M; Guicheney P; Hainque B; Lucet V; Bonnet D
Low incidence of cardiac events with beta-blocking therapy in children with long QT syndrome.
European heart journal 2004;25(16):1405-11.
2004: Gouas Laetitia; Bellocq Chloe; Berthet Myriam; Potet Franck; Demolombe Sophie; Forhan Anne; Lescasse Rachel; Simon Françoise; Balkau Beverley; Denjoy Isabelle; Hainque Bernard; Baró Isabelle; Guicheney Pascale;
New KCNQ1 mutations leading to haploinsufficiency in a general population; Defective trafficking of a KvLQT1 mutant.
Cardiovascular research 2004;63(1):60-8.
2004: Bertini E; Biancalana V; Bolino A; Buj Bello A; Clague M; Guicheney P; Jungbluth H; Kress W; Musaro' A; Nandurkar H; Pirola L; Romero N; Senderek J; Suter U; Sewry C; Tronchere H; Wallgren-Pettersson C; Wishart M J; Laporte J
118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy).
Neuromuscular disorders : NMD 2004;14(6):387-96.
2004: Lupoglazoff J M; Denjoy I; Villain E; Fressart V; Legall-Petit I; Bozio A; Berthet M; Benammar N; Hainque B; Guicheney P
[Neonatal forms of congenital long QT syndrome]
Archives des maladies du coeur et des vaisseaux 2004;97(5):479-83.
2004: Hermida Jean-Sylvain; Denjoy Isabelle; Clerc Jérôme; Extramiana Fabrice; Jarry Geneviève; Milliez Paul; Guicheney Pascale; Di Fusco Stefania; Rey Jean-Luc; Cauchemez Bruno; Leenhardt Antoine
Hydroquinidine therapy in Brugada syndrome.
Journal of the American College of Cardiology 2004;43(10):1853-60.
2004: Jeannet P-Y; Bassez G; Eymard B; Laforêt P; Urtizberea J A; Rouche A; Guicheney P; Fardeau M; Romero N B
Clinical and histologic findings in autosomal centronuclear myopathy.
Neurology 2004;62(9):1484-90.
2004: Ferreiro Ana; Ceuterick-de Groote Chantal; Marks Jared J; Goemans Nathalie; Schreiber Gudrun; Hanefeld Folker; Fardeau Michel; Martin Jean-Jacques; Goebel Hans H; Richard Pascale; Guicheney Pascale; Bönnemann Carsten G
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
Annals of neurology 2004;55(5):676-86.
2004: Demir E; Ferreiro A; Sabatelli P; Allamand V; Makri S; Echenne B; Maraldi M; Merlini L; Topaloglu H; Guicheney P
Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.
Neuropediatrics 2004;35(2):103-12.
2004: Lupoglazoff Jean-Marc; Denjoy Isabelle; Villain Elisabeth; Fressart Véronique; Simon Françoise; Bozio André; Berthet Myriam; Benammar Nawal; Hainque Bernard; Guicheney Pascale
Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.
Journal of the American College of Cardiology 2004;43(5):826-30.
2004: Quijano-Roy Susana; Renault Francis; Romero Norma; Guicheney Pascale; Fardeau Michel; Estournet Brigitte
EMG and nerve conduction studies in children with congenital muscular dystrophy.
Muscle & nerve 2004;29(2):292-9.
2004: Louhichi Nacim; Triki Chahnez; Quijano-Roy Susana; Richard Pascale; Makri Samira; Méziou Mériem; Estournet Brigitte; Mrad Slah; Romero Norma B; Ayadi Hammadi; Guicheney Pascale; Fakhfakh Faiza
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.
Neurogenetics 2004;5(1):27-34.
2003: Keller Dagmar I; Acharfi Said; Delacrétaz Etienne; Benammar Nawal; Rotter Martin; Pfammatter Jean Pierre; Fressart Véronique; Guicheney Pascale; Chahine Mohamed
A novel mutation in SCN5A, delQKP 1507-1509, causing long QT syndrome: role of Q1507 residue in sodium channel inactivation.
Journal of molecular and cellular cardiology 2003;35(12):1513-21.
2003: Muntoni F; Valero de Bernabe B; Bittner R; Blake D; van Bokhoven H; Brockington M; Brown S; Bushby K; Campbell K P; Fiszman M; Gruenewald S; Merlini L; Quijano-Roy S; Romero N; Sabatelli P; Sewry C A; Straub V; Talim B; Topaloglu H; Voit T; Yurchenco P D; Urtizberea J A; Wewer U M; Guicheney P
114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE).
Neuromuscular disorders : NMD 2003;13(7-8):579-88.
2003: Mazzadi Alejandro N; André-Fouët Xavier; Duisit Jérôme; Gebuhrer Véronique; Costes Nicolas; Chevalier Philippe; Rodriguez Claire; Schott Jean-Jacques; Le Marec Hervé; Guicheney Pascale; Le Bars Didier; Janier Marc
Cardiac retention of [11C]HED in genotyped long QT patients: a potential amplifier role for severity of the disease.
American journal of physiology. Heart and circulatory physiology 2003;285(3):H1286-93.
2003: Lupoglazoff J M; Denjoy I; Guicheney P
[Value of genetic testing in the management of the congenital long QT syndrome]
Archives des maladies du coeur et des vaisseaux 2003;96(5):539-47.
2003: Petit Nathalie; Lescure Alain; Rederstorff Mathieu; Krol Alain; Moghadaszadeh Behzad; Wewer Ulla M; Guicheney Pascale
Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern.
Human molecular genetics 2003;12(9):1045-53.
2003: Mercuri Eugenio; Brockington Martin; Straub Volker; Quijano-Roy Susana; Yuva Yeliz; Herrmann Ralf; Brown Susan C; Torelli Silvia; Dubowitz Victor; Blake Derek J; Romero Norma B; Estournet Brigitte; Sewry Caroline A; Guicheney Pascale; Voit Thomas; Muntoni Francesco
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
Annals of neurology 2003;53(4):537-42.
2003: Besse Sylvie; Allamand Valérie; Vilquin Jean-Thomas; Li Zhenlin; Poirier Christophe; Vignier Nicolas; Hori Hisae; Guénet Jean-Louis; Guicheney Pascale
Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin alpha2 chain gene.
Neuromuscular disorders : NMD 2003;13(3):216-22.
2002: Pepe Guglielmina; Bertini Enrico; Bonaldo Paolo; Bushby Kate; Giusti Betti; de Visser Marianne; Guicheney Pascale; Lattanzi Giovanna; Merlini Luciano; Muntoni Francesco; Nishino Ichizo; Nonaka Ikuya; Yaou Rabah Ben; Sabatelli Patrizia; Sewry Caroline; Topaloglu Haluk; van der Kooi Anneke
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2002;12(10):984-93.
2002: Muntoni F; Bertini E; Bönnemann C; Brockington M; Brown S; Bushby K; Fiszman M; Körner C; Mercuri E; Merlini L; Hewitt J; Quijano-Roy S; Romero N; Squarzoni S; Sewry C A; Straub V; Topaloglu H; Haliloglu G; Voit T; Wewer U; Guicheney P
98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2002;12(9):889-96.
2002: Postma Alex V; Denjoy Isabelle; Hoorntje Theo M; Lupoglazoff Jean-Marc; Da Costa Antoine; Sebillon Pascale; Mannens Marcel M A M; Wilde Arthur A M; Guicheney Pascale
Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia.
Circulation research 2002;91(8):e21-6.
2002: Mercuri Eugenio; Talim Beril; Moghadaszadeh Behzad; Petit Nathalie; Brockington Martin; Counsell Serena; Guicheney Pascale; Muntoni Francesco; Merlini Luciano
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).
Neuromuscular disorders : NMD 2002;12(7-8):631-8.
2002: Ferreiro Ana; Quijano-Roy Susana; Pichereau Claire; Moghadaszadeh Behzad; Goemans Nathalie; Bönnemann Carsten; Jungbluth Heinz; Straub Volker; Villanova Marcello; Leroy Jean-Paul; Romero Norma B; Martin Jean-Jacques; Muntoni Francesco; Voit Thomas; Estournet Brigitte; Richard Pascale; Fardeau Michel; Guicheney Pascale
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.
American journal of human genetics 2002;71(4):739-49.
2002: Ferreiro Ana; Monnier Nicole; Romero Norma B; Leroy Jean-Paul; Bönnemann Carsten; Haenggeli Charles-Antoine; Straub Volker; Voss Wolfgang D; Nivoche Yves; Jungbluth Heinz; Lemainque Arnaud; Voit Thomas; Lunardi Joël; Fardeau Michel; Guicheney Pascale
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.
Annals of neurology 2002;51(6):750-9.
2002: Quijano-Roy Susana; Galan Lucía; Ferreiro Ana; Cheliout-Héraut Fawzia; Gray Françoise; Fardeau Michel; Barois Annie; Guicheney Pascale; Romero Norma B; Estournet Brigitte
Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency.
Neuromuscular disorders : NMD 2002;12(5):466-75.
2002: Demir Ercan; Sabatelli Patrizia; Allamand Valérie; Ferreiro Ana; Moghadaszadeh Behzad; Makrelouf Mohamed; Topaloglu Haluk; Echenne Bernard; Merlini Luciano; Guicheney Pascale
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.
American journal of human genetics 2002;70(6):1446-58.
2002: Lupoglazoff J M; Denjoy I; Cheav T; Berthet M; Extramiana F; Cauchemez B; Villain E; Leenhardt A; Guicheney P
[Homozygotous mutation of the SCN5A gene responsible for congenital long QT syndrome with 2/1 atrioventricular block]
Archives des maladies du coeur et des vaisseaux 2002;95(5):440-6.
2002: Allamand Valérie; Guicheney Pascale
Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin).
European journal of human genetics : EJHG 2002;10(2):91-4.
2002: Muntoni Francesco; Guicheney Pascale
85th ENMC International Workshop on Congenital Muscular Dystrophy. 6th International CMD Workshop. 1st Workshop of the Myo-Cluster Project 'GENRE'. 27-28th October 2000, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2002;12(1):69-78.
2001: Brockington M; Blake D J; Prandini P; Brown S C; Torelli S; Benson M A; Ponting C P; Estournet B; Romero N B; Mercuri E; Voit T; Sewry C A; Guicheney P; Muntoni F
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
American journal of human genetics 2001;69(6):1198-209.
2001: He Y; Jones K J; Vignier N; Morgan G; Chevallay M; Barois A; Estournet-Mathiaud B; Hori H; Mizuta T; Tomé F M; North K N; Guicheney P
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study.
Neurology 2001;57(7):1319-22.
2001: Moghadaszadeh B; Petit N; Jaillard C; Brockington M; Roy S Q; Merlini L; Romero N; Estournet B; Desguerre I; Chaigne D; Muntoni F; Topaloglu H; Guicheney P
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
Nature genetics 2001;29(1):17-8.
2001: Lupoglazoff J M; Cheav T; Baroudi G; Berthet M; Denjoy I; Cauchemez B; Extramiana F; Chahine M; Guicheney P
Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block.
Circulation research 2001;89(2):E16-21.
2001: Baroudi G; Pouliot V; Denjoy I; Guicheney P; Shrier A; Chahine M
Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G).
Circulation research 2001;88(12):E78-83.
2001: Lupoglazoff J M; Denjoy I; Berthet M; Hainque B; Vaksmann G; Klug D; Villain E; Lucet V; Guicheney P; Coumel P
[T wave abnormalities on Holter monitoring of congenital long QT syndrome: phenotypic marker of a mutation of LQT2 (HERG)]
Archives des maladies du coeur et des vaisseaux 2001;94(5):470-8.
2001: Lupoglazoff J M; Denjoy I; Guicheney P; Casasoprana A; Coumel P
[Congenital long QT syndrome]
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2001;8(5):525-34.
2001: Di Blasi C; He Y; Morandi L; Cornelio F; Guicheney P; Mora M
Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping.
Brain : a journal of neurology 2001;124(Pt 4):698-704.
2001: Lupoglazoff J M; Denjoy I; Berthet M; Neyroud N; Demay L; Richard P; Hainque B; Vaksmann G; Klug D; Leenhardt A; Maillard G; Coumel P; Guicheney P
Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations.
Circulation 2001;103(8):1095-101.
2000: Talim B; Ferreiro A; Cormand B; Vignier N; Oto A; Gögüs S; Cila A; Lehesjoki A E; Pihko H; Guicheney P; Topaloglu H
Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci.
Neuromuscular disorders : NMD 2000;10(8):548-52.
2000: Villanova M; Mercuri E; Bertini E; Sabatelli P; Morandi L; Mora M; Sewry C; Brockington M; Brown S C; Ferreiro A; Maraldi N M; Toda T; Guicheney P; Merlini L; Muntoni F
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.
Neuromuscular disorders : NMD 2000;10(8):541-7.
2000: Ferreiro A; Estournet B; Chateau D; Romero N B; Laroche C; Odent S; Toutain A; Cabello A; Fontan D; dos Santos H G; Haenggeli C A; Bertini E; Urtizberea J A; Guicheney P; Fardeau M
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases.
Annals of neurology 2000;48(5):745-57.
2000: Di Blasi C; Mora M; Pareyson D; Farina L; Sghirlanzoni A; Vignier N; Blasevich F; Cornelio F; Guicheney P; Morandi L
Partial laminin alpha2 chain deficiency in a patient with myopathy resembling inclusion body myositis.
Annals of neurology 2000;47(6):811-6.
2000: Fardeau M; Vicart P; Caron A; Chateau D; Chevallay M; Collin H; Chapon F; Duboc D; Eymard B; Tomé F M; Dupret J M; Paulin D; Guicheney P
[Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material with mutation of the alphaB-cristallin gene]
Revue neurologique 2000;156(5):497-504.
2000: Deschênes I; Baroudi G; Berthet M; Barde I; Chalvidan T; Denjoy I; Guicheney P; Chahine M
Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes.
Cardiovascular research 2000;46(1):55-65.
2000: Chouabe C; Neyroud N; Richard P; Denjoy I; Hainque B; Romey G; Drici M D; Guicheney P; Barhanin J
Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.
Cardiovascular research 2000;45(4):971-80.
1999: Moghadaszadeh B; Topaloglu H; Merlini L; Muntoni F; Estournet B; Sewry C; Naom I; Barois A; Fardeau M; Tomé F M; Guicheney P
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome.
Neuromuscular disorders : NMD 1999;9(6-7):376-82.
1999: Murray A; Donger C; Fenske C; Spillman I; Richard P; Dong Y B; Neyroud N; Chevalier P; Denjoy I; Carter N; Syrris P; Afzal A R; Patton M A; Guicheney P; Jeffery S
Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts.
Circulation 1999;100(10):1077-84.
1999: Vignier N; Moghadaszadeh B; Gary F; Beckmann J; Mayer U; Guicheney P
Structure, genetic localization, and identification of the cardiac and skeletal muscle transcripts of the human integrin alpha7 gene (ITGA7).
Biochemical and biophysical research communications 1999;260(2):357-64.
1999: Denjoy I; Lupoglazoff J M; Donger C; Berthet M; Richard P; Neyroud N; Villain E; Lucet V; Coumel P; Guicheney P
[Congenital long QT syndrome. The value of genetics in prognostic evaluation]
Archives des maladies du coeur et des vaisseaux 1999;92(5):557-63.
1999: Mohammad-Panah R; Demolombe S; Neyroud N; Guicheney P; Kyndt F; van den Hoff M; Baró I; Escande D
Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias.
American journal of human genetics 1999;64(4):1015-23.
1999: Berthet M; Denjoy I; Donger C; Demay L; Hammoude H; Klug D; Schulze-Bahr E; Richard P; Funke H; Schwartz K; Coumel P; Hainque B; Guicheney P
C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.
Circulation 1999;99(11):1464-70.
1999: Neyroud N; Richard P; Vignier N; Donger C; Denjoy I; Demay L; Shkolnikova M; Pesce R; Chevalier P; Hainque B; Coumel P; Schwartz K; Guicheney P
Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.
Circulation research 1999;84(3):290-7.
1998: Donger C; Krejci E; Serradell A P; Eymard B; Bon S; Nicole S; Chateau D; Gary F; Fardeau M; Massoulié J; Guicheney P
Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic).
American journal of human genetics 1998;63(4):967-75.
1998: Vicart P; Caron A; Guicheney P; Li Z; Prévost M C; Faure A; Chateau D; Chapon F; Tomé F; Dupret J M; Paulin D; Fardeau M
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.
Nature genetics 1998;20(1):92-5.
1998: Lupoglazoff J M; Denjoy I; Neyroud N; Guicheney P; Casasoprana A; Coumel P
[Congenital long QT syndrome]
Presse médicale (Paris, France : 1983) 1998;27(21):1029-34.
1998: Moghadaszadeh B; Desguerre I; Topaloglu H; Muntoni F; Pavek S; Sewry C; Mayer M; Fardeau M; Tomé F M; Guicheney P
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.
American journal of human genetics 1998;62(6):1439-45.
1998: Topaloglu H; Talim B; Vignier N; Helbling-Leclerc A H; Yetük M; Afsin I E; Caglar M; Kale G; Guicheney P
Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings.
Neuromuscular disorders : NMD 1998;8(3-4):169-74.
1998: Neyroud N; Denjoy I; Donger C; Gary F; Villain E; Leenhardt A; Benali K; Schwartz K; Coumel P; Guicheney P
Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome.
European journal of human genetics : EJHG 1998;6(2):129-33.
1998: Guicheney P; Vignier N; Zhang X; He Y; Cruaud C; Frey V; Helbling-Leclerc A; Richard P; Estournet B; Merlini L; Topaloglu H; Mora M; Harpey J P; Haenggeli C A; Barois A; Hainque B; Schwartz K; Tomé F M; Fardeau M; Tryggvason K
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.
Journal of medical genetics 1998;35(3):211-7.
1998: Neyroud N; Maison-Blanche P; Denjoy I; Chevret S; Donger C; Dausse E; Fayn J; Badilini F; Menhabi N; Schwartz K; Guicheney P; Coumel P
Diagnostic performance of QT interval variables from 24-h electrocardiography in the long QT syndrome.
European heart journal 1998;19(1):158-65.
1998: Tesson F; Richard P; Charron P; Mathieu B; Cruaud C; Carrier L; Dubourg O; Lautié N; Desnos M; Millaire A; Isnard R; Hagege A A; Bouhour J B; Bennaceur M; Hainque B; Guicheney P; Schwartz K; Komajda M
Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.
Human mutation 1998;12(6):385-92.
1997: Donger C; Denjoy I; Berthet M; Neyroud N; Cruaud C; Bennaceur M; Chivoret G; Schwartz K; Coumel P; Guicheney P
KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
Circulation 1997;96(9):2778-81.
1997: Chouabe C; Neyroud N; Guicheney P; Lazdunski M; Romey G; Barhanin J
Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.
The EMBO journal 1997;16(17):5472-9.
1997: Guicheney P; Vignier N; Helbling-Leclerc A; Nissinen M; Zhang X; Cruaud C; Lambert J C; Richelme C; Topaloglu H; Merlini L; Barois A; Schwartz K; Tomé F M; Tryggvason K; Fardeau M
Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis.
Neuromuscular disorders : NMD 1997;7(3):180-6.
1997: Naom I; D'Alessandro M; Sewry C; Ferlini A; Topaloglu H; Helbling-Leclerc A; Guicheney P; Schwartz K; Akcoren Z; Dubowitz V; Muntoni F
The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy.
Human genetics 1997;99(4):535-40.
1997: Tesson F; Dufour C; Moolman J C; Carrier L; al-Mahdawi S; Chojnowska L; Dubourg O; Soubrier E; Brink P; Komajda M; Guicheney P; Schwartz K; Feingold J
The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation.
Journal of molecular and cellular cardiology 1997;29(2):831-8.
1997: Naom I S; D'Alessandro M; Topaloglu H; Sewry C; Ferlini A; Helbling-Leclerc A; Guicheney P; Weissenbach J; Schwartz K; Bushby K; Philpot J; Dubowitz V; Muntoni F
Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.
Journal of medical genetics 1997;34(2):99-104.
1997: Neyroud N; Tesson F; Denjoy I; Leibovici M; Donger C; Barhanin J; Fauré S; Gary F; Coumel P; Petit C; Schwartz K; Guicheney P
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome.
Nature genetics 1997;15(2):186-9.
1997: Charron P; Carrier L; Dubourg O; Tesson F; Desnos M; Richard P; Bonne G; Guicheney P; Hainque B; Bouhour J B; Mallet A; Feingold J; Schwartz K; Komajda M
Penetrance of familial hypertrophic cardiomyopathy.
Genetic counseling (Geneva, Switzerland) 1997;8(2):107-14.
1996: Tesson F; Donger C; Denjoy I; Berthet M; Bennaceur M; Petit C; Coumel P; Schwarts K; Guicheney P
Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange-Nielsen syndrome.
Journal of molecular and cellular cardiology 1996;28(9):2051-5.
1996: Dausse E; Berthet M; Denjoy I; André-Fouet X; Cruaud C; Bennaceur M; Fauré S; Coumel P; Schwartz K; Guicheney P
A mutation in HERG associated with notched T waves in long QT syndrome.
Journal of molecular and cellular cardiology 1996;28(8):1609-15.
1996: Nissinen M; Helbling-Leclerc A; Zhang X; Evangelista T; Topaloglu H; Cruaud C; Weissenbach J; Fardeau M; Tomé F M; Schwartz K; Tryggvason K; Guicheney P
Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.
American journal of human genetics 1996;58(6):1177-84.
1996: Fardeau M; Tomé F M; Helbling-Leclerc A; Evangelista T; Ottolini A; Chevallay M; Barois A; Estournet B; Harpey J P; Fauré S; Guicheney P; Hillaire D
[Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis]
Revue neurologique 1996;152(1):11-9.
1995: Dausse E; Denjoy I; Kahlem P; Bennaceur M; Fauré S; Weissenbach J; Coumel P; Schwartz K; Guicheney P
Readjusting the localization of long QT syndrome gene on chromosome 11p15.
Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie 1995;318(8):879-85.
1995: Schwartz K; Carrier L; Guicheney P; Komajda M
Molecular basis of familial cardiomyopathies.
Circulation 1995;91(2):532-40.
1994: Hagège A; Desnos M; Komajda M; Dubourg O; Isnard R; Guicheney P; Schwartz K; Lévine R A
[Physiopathology of mitral mechanics in hypertrophic cardiomyopathy. Groupe de travail "Cardiomyopathies et insuffisance cardiaque" de la Société Française de Cardiologie]
Archives des maladies du coeur et des vaisseaux 1994;87(10):1345-52.
1994: Hillaire D; Leclerc A; Fauré S; Topaloglu H; Chiannilkulchaï N; Guicheney P; Grinas L; Legos P; Philpot J; Evangelista T
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping.
Human molecular genetics 1994;3(9):1657-61.
1994: Dufour C; Dausse E; Fetler L; Dubourg O; Bouhour J B; Vosberg H P; Guicheney P; Komajda M; Schwartz K
Identification of a mutation near a functional site of the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy.
Journal of molecular and cellular cardiology 1994;26(9):1241-7.
1993: Carrier L; Hengstenberg C; Beckmann J S; Guicheney P; Dufour C; Bercovici J; Dausse E; Berebbi-Bertrand I; Wisnewsky C; Pulvenis D
Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11.
Nature genetics 1993;4(3):311-3.
1993: Rota R; Timsit J; Hannedouche T; Ikeni A; Boitard C; Guicheney P
Erythrocyte Na+/Li+ countertransport and glomerular hyperfiltration in insulin-dependent diabetics.
American journal of hypertension 1993;6(6 Pt 1):534-7.
1993: Soussan K; Dausse E; Hannedouche T; Timsit J; Lemoult F; Boitard C; Grünfeld J P; Guicheney P
Proliferation and Na+/H+ antiport activity in human fibroblasts from type I diabetic patients with nephropathy.
American journal of hypertension 1993;6(2):170-3.
1992: Guicheney P; Soussan K; Dausse E; Rota R
Dissociation of hypertension and genetically enhanced cell growth capacity in skin fibroblasts of F2 hybrid spontaneously hypertensive rats/Wistar-Kyoto rats.
American journal of hypertension 1992;5(8):556-65.
1991: Rota R; Nazaret C; Henrotte J G; Garay R P; Guicheney P
Dissociation between derepressed K+,Cl- cotransport system and high blood pressure in the F2 hybrid generation (SHR x WKY).
Journal of hypertension. Supplement : official journal of the International Society of Hypertension 1991;9(6):S298-9.
1991: Soussan K; Hannedouche T; Boitard C; Grünfeld J P; Guicheney P
Na(+)-H+ exchange activity in skin fibroblasts from hyperfiltering insulin-dependent diabetics.
Journal of hypertension. Supplement : official journal of the International Society of Hypertension 1991;9(6):S314-5.
1989: Moalic J M; Bauters C; Himbert D; Bercovici J; Mouas C; Guicheney P; Baudoin-Legros M; Rappaport L; Emanoil-Ravier R; Mezger V
Phenylephrine, vasopressin and angiotensin II as determinants of proto-oncogene and heat-shock protein gene expression in adult rat heart and aorta.
Journal of hypertension 1989;7(3):195-201.

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