FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Pascale Guicheney

Research Profile

Physiology

Disorders

Concepts & Ideas

Anatomy

Muscle, Skeletal

Procedures

DNA Mutational Analysis

Chemicals & Drugs

Co-author Network

Publications

TOP 3
Daniel C Bartos; Rachel Bastiaenen; Elijah R Behr; Don E Burgess; Michael H Gollob; Pascale Guicheney; Tessa Homfray; Jonathan N Johnson; David J Tester; Michael J Ackerman; Jeffrey B Anderson; Brian P Delisle
A KCNQ1 Mutation Causes a High Penetrance for Familial Atrial Fibrillation.
Don E Burgess; Kenneth S Campbell; Michael J Ackerman; Daniel C Bartos; Isabelle Denjoy; Véronique Fressart; Pascale Guicheney; Minoru Horie; Jonathan N Johnson; Arthur J Moss; Seiko Ohno; Allison R Reloj; David J Tester; Brian P Delisle
High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeation.
Antoine Leenhardt; Isabelle Denjoy; Pascale Guicheney
Catecholaminergic polymorphic ventricular tachycardia.

Register for free to view:

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 research activity
of experts around the globe

Geonetwork of Pascale Guicheney (preview)

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

Flash Player Required

All Publications

2013: Daniel C Bartos; Rachel Bastiaenen; Elijah R Behr; Don E Burgess; Michael H Gollob; Pascale Guicheney; Tessa Homfray; Jonathan N Johnson; David J Tester; Michael J Ackerman; Jeffrey B Anderson; Brian P Delisle
A KCNQ1 Mutation Causes a High Penetrance for Familial Atrial Fibrillation.
Journal of cardiovascular electrophysiology 2013;24(5):562-9.
2012: Don E Burgess; Kenneth S Campbell; Michael J Ackerman; Daniel C Bartos; Isabelle Denjoy; Véronique Fressart; Pascale Guicheney; Minoru Horie; Jonathan N Johnson; Arthur J Moss; Seiko Ohno; Allison R Reloj; David J Tester; Brian P Delisle
High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeation.
Biochemistry 2012;51(45):9076-85.
2012: Antoine Leenhardt; Isabelle Denjoy; Pascale Guicheney
Catecholaminergic polymorphic ventricular tachycardia.
Circulation. Arrhythmia and electrophysiology 2012;5(5):1044-52.
2012: Jérôme Clatot; Alain Coulombe; Isabelle Denjoy; Isabelle Deschênes; Gilles Dilanian; Pascale Guicheney; Stéphane N Hatem; Haiyan Liu; Svetlana Maugenre; Azza Ziyadeh-Isleem; Nathalie Neyroud
Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunits.
Cardiovascular research 2012;96(1):53-63.
2012: Perrine Castets; Pascale Guicheney; Alain Lescure; Valérie Allamand
Selenoprotein N in skeletal muscle: from diseases to function.
Journal of molecular medicine (Berlin, Germany) 2012;90(10):1095-107.
2012: Miyuki Hayashi; Didier Klug; Isabelle Denjoy; Fabrice Extramiana; Pascale Guicheney; Meiso Hayashi; Jean-Marc Lupoglazoff; Alice Maltret; Philippe Maury; Anne Messali; Nathalie Roux-Buisson; Antoine Leenhardt
The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probands.
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 2012;14(9):1344-51.
2012: Nathalie Roux-Buisson; Elodie Santoni; Pauline Trémeaux; Nicole Monnier; Vincent Probst; Pierre F Ray; Jacques Brocard; Marine Cacheux; Isabelle Denjoy; Philippe Durand; Jeremy Fauconnier; Julien Fauré; Anne Fourest-Lieuvin; Pascale Guicheney; Florence Kyndt; Alain Lacampagne; Hervé Le Marec; Antoine Leenhardt; Vincent Lucet; Joël Lunardi; Philippe Mabo; Isabelle Marty
Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.
Human molecular genetics 2012;21(12):2759-67.
2012: Anne-Cécile Durieux; Bodvaël Fraysse; Damien Freyssenet; Pascale Guicheney; Jeanne Lainé; Bernard Prudhon; Stéphane Vassilopoulos; Gisèle Bonne; Laura Briñas; Josiane Castells; Marc Bitoun
A centronuclear myopathy--dynamin 2 mutation impairs autophagy in mice.
Traffic (Copenhagen, Denmark) 2012;13(6):869-79.
2012: Andrew I Shevchuk; Marcus Taylor; Azza Ziyadeh-Isleem; Max J Lab; Christien J Merrifield; Pavel Novak; Marc Bitoun; Ivan A Diakonov; Julia Gorelik; Pascale Guicheney; David Klenerman; Yuri E Korchev
An alternative mechanism of clathrin-coated pit closure revealed by ion conductance microscopy.
The Journal of cell biology 2012;197(4):499-508.
2012: Guillaume Duthoit; Robert Frank; Véronique Fressart; Pascale Guicheney; Françoise Hidden-Lucet; C Himbert; Darouna Kattygnarath; Yves Lecarpentier; Françoise Simon; P Aouate; Philippe Charron; Jean-Louis Hébert
Brugada ECG pattern: a physiopathological prospective study based on clinical, electrophysiological, angiographic, and genetic findings.
Frontiers in physiology 2012;3():474.
2011: Darouna Kattygnarath; Hervé Le Marec; Antoine Leenhardt; Raphaël P Martins; Svetlana Maugenre; Nathalie Neyroud; Vincent Probst; Jean Jacques Schott; Elise Balse; Myriam Berthet; Alain Coulombe; Isabelle Denjoy; Gilles Dilanian; Véronique Fressart; Bernard Hainque; Stéphane N Hatem; Carole Ichai; Pascale Guicheney
MOG1: a new susceptibility gene for Brugada syndrome.
Circulation. Cardiovascular genetics 2011;4(3):261-8.
2011: Nigel F Clarke; Svetlana Maugenre; Aurélie Vandebrouck; J Andoni Urtizberea; Tobias Willer; Rachel Peat; Françoise Gray; Céline Bouchet; Hiroshi Manya; Sandrine Vuillaumier-Barrot; Tamao Endo; Eliane Chouery; Kevin P Campbell; André Mégarbané; Pascale Guicheney
Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.
European journal of human genetics : EJHG 2011;19(4):452-7.
2011: Perrine Castets; Anne T Bertrand; Maud Beuvin; Arnaud Ferry; Fabien Le Grand; Marie Castets; Guillaume Chazot; Mathieu REDERSTORFF; Alain Krol; Alain Lescure; Norma B Romero; Pascale Guicheney; Valérie Allamand
Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.
Human molecular genetics 2011;20(4):694-704.
2011: Mathieu REDERSTORFF; Stéphane Vassilopoulos; Alban Vignaud; Valérie Allamand; sandrine Arbogast; Maud Beuvin; Perrine Castets; Odile Dubourg; Ana Ferreiro; Arnaud Ferry; Pascale Guicheney; Alain Krol; Jeanne Lainé; Alain Lescure
Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy.
PloS one 2011;6(8):e23094.
2011: Nathalie Roux-Buisson; Grégory Egéa; Isabelle Denjoy; Pascale Guicheney; Joel Lunardi
Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring.
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 2011;13(1):130-2.
2011: Daniel C Bartos; Sabine Duchatelet; Don E Burgess; Didier Klug; Isabelle Denjoy; Rachel Peat; Jean-Marc Lupoglazoff; Véronique Fressart; Myriam Berthet; Michael J Ackerman; Craig T January; Pascale Guicheney; Brian P Delisle
R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation.
Heart rhythm : the official journal of the Heart Rhythm Society 2011;8(1):48-55.
2010: Anne-Cécile Durieux; Alban Vignaud; Bernard Prudhon; Mai Thao Viou; Maud Beuvin; Stéphane Vassilopoulos; Bodvaël Fraysse; Arnaud Ferry; Jeanne Lainé; Norma B Romero; Pascale Guicheney; Marc Bitoun
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.
Human molecular genetics 2010;19(24):4820-36.
2010: Rachel D Susman; Susana Quijano-Roy; Nan Yang; Richard Webster; Nigel F Clarke; Jim Dowling; Marina Kennerson; Garth Nicholson; Valerie Biancalana; Biljana Ilkovski; Kevin M Flanigan; Susan Arbuckle; Chandra Malladi; Phillip Robinson; Steven Vucic; Michèle Mayer; Norma B Romero; Jon Andoni Urtizberea; Federico García-Bragado; Pascale Guicheney; Marc Bitoun; Robert-Yves Carlier; Kathryn N North
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
Neuromuscular disorders : NMD 2010;20(4):229-37.
2010: Anne-Cécile Durieux; Bernard Prudhon; Pascale Guicheney; Marc Bitoun
Dynamin 2 and human diseases.
Journal of molecular medicine (Berlin, Germany) 2010;88(4):339-50.
2010: Tamao Endo; Hiroshi Manya; Nathalie Seta; Pascale Guicheney
POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
Methods in enzymology 2010;479():343-52.
2010: Jamie D Kapplinger; David J Tester; Marielle Alders; Begoña Benito; Myriam Berthet; Josep Brugada; Pedro Brugada; Véronique Fressart; Alejandra Guerchicoff; Carole Harris-Kerr; Shiro Kamakura; Florence Kyndt; Tamara T Koopmann; Yoshihiro Miyamoto; Ryan Pfeiffer; Guido D Pollevick; Vincent Probst; Sven Zumhagen; Matteo Vatta; Jeffrey A Towbin; Wataru Shimizu; Eric Schulze-Bahr; Charles Antzelevitch; Salisbury Benjamin; Pascale Guicheney; Arthur A M Wilde; Ramon Brugada; Jean-Jacques Schott; Michael J Ackerman
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Heart rhythm : the official journal of the Heart Rhythm Society 2010;7(1):33-46.
2009: Vincent Probst; Arthur A M Wilde; Julien Barc; Frederic Sacher; Dominique Babuty; Philippe Mabo; Jacques Mansourati; Solena Le Scouarnec; Florence Kyndt; Cedric Le Caignec; Pascale Guicheney; Laetitia Gouas; Juliette Albuisson; Paola G Meregalli; Hervé Le Marec; Hanno L Tan; Jean-Jacques Schott
SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome.
Circulation. Cardiovascular genetics 2009;2(6):552-7.
2009: Alain Lescure; Mathieu REDERSTORFF; Alain Krol; Pascale Guicheney; Valérie Allamand
Selenoprotein function and muscle disease.
Biochimica et biophysica acta 2009;1790(11):1569-74.
2009: Marc Bitoun; Anne-Cécile Durieux; Bernard Prudhon; Jorge A Bevilacqua; Adrien Herledan; Vehary Sakanyan; Andoni Urtizberea; Luis Cartier; Norma B Romero; Pascale Guicheney
Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.
Human mutation 2009;30(10):1419-27.
2009: Akiko Yanagisawa; Céline Bouchet; Susana Quijano-Roy; Sandrine Vuillaumier-Barrot; Nigel Clarke; Sylvie Odent; Diana Rodriguez; Norma B Romero; Makiko Osawa; Tamao Endo; Ana Lia Taratuto; Nathalie Seta; Pascale Guicheney
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
European journal of medical genetics 2009;52(4):201-6.
2009: Meiso Hayashi; Isabelle Denjoy; Fabrice Extramiana; Alice Maltret; Nathalie Roux Buisson; Jean-Marc Lupoglazoff; Didier Klug; Miyuki Hayashi; Seiji Takatsuki; Elisabeth Villain; Joël Kamblock; Anne Messali; Pascale Guicheney; Joël Lunardi; Antoine Leenhardt
Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia.
Circulation 2009;119(18):2426-34.
2009: Sandrine Vuillaumier-Barrot; S Quijano-Roy; C Bouchet-Seraphin; S Maugenre; S Peudenier; P Van den Bergh; P Marcorelles; D Avila-Smirnow; M Chelbi; Norma B Romero; R Y Carlier; B Estournet; Pascale Guicheney; Nathalie Seta
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.
Neuromuscular disorders : NMD 2009;19(3):182-8.
2009: Jorge A Bevilacqua; Marc Bitoun; Valérie Biancalana; Anders Oldfors; Gisela Stoltenburg; Kristl G Claeys; Emmanuelle Lacène; Guy Brochier; Linda Manéré; Pascal Laforêt; Bruno Eymard; Pascale Guicheney; Michel Fardeau; Norma B Romero
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.
Acta neuropathologica 2009;117(3):283-91.
2009: Baijayanta Maiti; sandrine Arbogast; Valérie Allamand; Mark W Moyle; Christine B Anderson; Pascale Richard; Pascale Guicheney; Ana Ferreiro; Kevin M Flanigan; Michael T Howard
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: Marc Bitoun; J A Bevilacqua; Bruno Eymard; B Prudhon; Michel Fardeau; Pascale Guicheney; Norma B Romero
A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation.
Neurology 2009;72(1):93-5.
2009: Perrine Castets; Svetlana Maugenre; Corine Gartioux; Mathieu REDERSTORFF; Alain Krol; Alain Lescure; Shahragim Tajbakhsh; Valérie Allamand; Pascale Guicheney
Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors.
BMC developmental biology 2009;9():46.
2009: Samira Makri; Nigel F Clarke; Pascale Richard; Svetlana Maugenre; Laurence Demay; Gisèle Bonne; Pascale Guicheney
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.
Neuromuscular disorders : NMD 2009;19(1):26-8.
2008: Susana Quijano-Roy; Blaise Mbieleu; Carsten G Bönnemann; Pierre-Yves Jeannet; Jaume Colomer; Nigel F Clarke; Jean-Marie Cuisset; Helen Roper; Linda De Meirleir; Adele D'Amico; Rabah Ben Yaou; Andrés Nascimento; Annie Barois; Laurence Demay; Enrico Bertini; Ana Ferreiro; Caroline A Sewry; Norma B Romero; Monique Ryan; Francesco Muntoni; Pascale Guicheney; Pascale Richard; Gisèle Bonne; Brigitte Estournet
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
Annals of neurology 2008;64(2):177-86.
2008: Marc Bitoun; Tanya Stojkovic; Bernard Prudhon; Claude-Alain Maurage; Philippe Latour; Patrick Vermersch; Pascale Guicheney
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: Valérie Allamand; Laure Bidou; Masayuki Arakawa; Célia Floquet; Masataka Shiozuka; Marion Paturneau-Jouas; Corine Gartioux; Gillian Butler-Browne; Vincent Mouly; Jean-Pierre Rousset; Ryoichi Matsuda; Daishiro Ikeda; Pascale Guicheney
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: Isabelle Six; Jean-Sylvain Hermida; Hai Huang; Laetitia Gouas; Véronique Fressart; Nawal Benammar; Bernard Hainque; Isabelle Denjoy; Mohamed Chahine; Pascale Guicheney
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: Mathieu REDERSTORFF; Valérie Allamand; Pascale Guicheney; Corine Gartioux; Pascale Richard; Denys Chaigne; Alain Krol; Alain Lescure
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: Hiroshi Manya; Céline Bouchet; Akiko Yanagisawa; Sandrine Vuillaumier-Barrot; Susana Quijano-Roy; Yasushi Suzuki; Svetlana Maugenre; Pascale Richard; Toshiyuki Inazu; Luciano Merlini; Norma B Romero; France Leturcq; Isabelle Bezier; Haluk Topaloglu; Brigitte Estournet; Nathalie Seta; Tamao Endo; Pascale Guicheney
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
Neuromuscular disorders : NMD 2008;18(1):45-51.
2007: Marc Bitoun; Jorge A Bevilacqua; Bernard Prudhon; Svetlana Maugenre; Ana Lia Taratuto; Soledad Monges; Fabiana Lubieniecki; Claude Cances; Emmanuelle Uro-Coste; Michèle Mayer; Michel Fardeau; Norma B Romero; Pascale Guicheney
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
Annals of neurology 2007;62(6):666-70.
2007: A Yanagisawa; C Bouchet; P Y K Van Den Bergh; Jean-Marie Cuisset; Louis Viollet; France Leturcq; Norma B Romero; Susana Quijano-Roy; Michel Fardeau; Nathalie Seta; Pascale Guicheney
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
Neurology 2007;69(12):1254-60.
2007: Nicol C Voermans; Guido J Jenniskens; Ben C J Hamel; Joost Schalkwijk; Pascale Guicheney; B G M van Engelen
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: Laetitia Gouas; Viviane Nicaud; S Chaouch; Myriam Berthet; Anne Forhan; Jean Tichet; Laurence Tiret; Beverley Balkau; Pascale Guicheney
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: Isabelle Denjoy; Jean-Marc Lupoglazoff; Elisabeth Villain; Guy Vaksmann; François Godart; V Lucet; Antoine Leenhardt; Pascale Guicheney; P Schwartz
[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: Virginie Carmignac; Mustafa A Salih; Susana Quijano-Roy; Sylvie Marchand; Molham M Al-Rayess; Maowia M Mukhtar; J Andoni Urtizberea; Siegfried Labeit; Pascale Guicheney; France Leturcq; Mathias Gautel; Michel Fardeau; Kevin P Campbell; Isabelle Richard; Brigitte Estournet; Ana Ferreiro
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
Annals of neurology 2007;61(4):340-51.
2007: Heinz Jungbluth; Haiyan Zhou; Caroline A Sewry; Stephanie Robb; Susan Treves; Marc Bitoun; Pascale Guicheney; Anna Buj-Bello; Carsten G Bönnemann; Francesco Muntoni
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: Peter J Mohler; Solena Le Scouarnec; Isabelle Denjoy; John S Lowe; Pascale Guicheney; Lise Caron; Iwona M Driskell; Jean-Jacques Schott; Keith C Norris; Antoine Leenhardt; Richard B Kim; Denis Escande; Dan Mark Roden
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: Olfa Siala; Nacim Louhichi; Chahnez Triki; Madeleine Morinière; Ahmed Rebai; Pascale Richard; Pascale Guicheney; Faouzi Baklouti; Faiza Fakhfakh
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: Medea Imboden; Heikki Swan; Isabelle Denjoy; Irene van Langen; Päivi Johanna Latinen-Forsblom; Carlo Napolitano; Véronique Fressart; Guenter Breithardt; Myriam Berthet; Silvia Priori; Bernard Hainque; Arthur Arnold Maria Wilde; Eric Schulze-Bahr; JOSUE FEINGOLD; Pascale Guicheney
Female predominance and transmission distortion in the long-QT syndrome.
The New England journal of medicine 2006;355(26):2744-51.
2006: Dirk Fischer; Muriel Herasse; Ana Ferreiro; Héctor Manuel Barragán-Campos; Jacques Chiras; Louis Viollet; Svetlana Maugenre; Jean-Paul Leroy; Nicole Monnier; Joël Lunardi; Pascale Guicheney; Michel Fardeau; Norma B Romero
Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene.
Neurology 2006;67(12):2217-20.
2006: Chi-un Choe; Eric Schulze-Bahr; Axel Neu; Jun Xu; Zheng I Zhu; Kathrin Sauter; Robert Bähring; Silvia Priori; Pascale Guicheney; Gerold Mönnig; Carlo Neapolitano; Jan Heidemann; colleen clancy; Olaf Pongs; Dirk Isbrandt
C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilon.
Human molecular genetics 2006;15(19):2888-902.
2006: Dirk Fischer; Muriel Herasse; Marc Bitoun; Héctor Manuel Barragán-Campos; Jacques Chiras; Pascal Laforêt; Michel Fardeau; Bruno Eymard; Pascale Guicheney; Norma B Romero
Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.
Brain : a journal of neurology 2006;129(Pt 6):1463-9.
2006: Jeroen van Reeuwijk; Svetlana Maugenre; Christa van den Elzen; Aad Verrips; Enrico Bertini; Francesco Muntoni; Luciano Merlini; Hans Scheffer; Han G Brunner; Pascale Guicheney; Hans van Bokhoven
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: Susana Quijano-Roy; Itxaso Martí-Carrera; Samira Makri; Michèle Mayer; Svetlana Maugenre; Pascale Richard; Carole Berard; Louis Viollet; Bruno Leheup; Pascale Guicheney; Jean-Marc Pinard; Brigitte Estournet; Robert Carlier
Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
Brain & development 2006;28(4):232-42.
2006: Mariko Taniguchi; Hiroki Kurahashi; Satoru Noguchi; Jun Sese; Takeshi Okinaga; Toshifumi Tsukahara; Pascale Guicheney; Keiichi Ozono; Ichizo Nishino; Shinichi Morishita; Tatsushi Toda
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: Valérie Allamand; Pascale Richard; Alain Lescure; Céline Ledeuil; Delphine Desjardin; Nathalie Petit; Corine Gartioux; Ana Ferreiro; Alain Krol; Nadine Pellegrini; J Andoni Urtizberea; Pascale Guicheney
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: Nigel F Clarke; Warren Kidson; Susana Quijano-Roy; Brigitte Estournet; Ana Ferreiro; Pascale Guicheney; James I Manson; Andrew J Kornberg; Lloyd K Shield; Kathryn N North
SEPN1: associated with congenital fiber-type disproportion and insulin resistance.
Annals of neurology 2006;59(3):546-52.
2006: Marc Bitoun; Norma B Romero; Pascale Guicheney
[Mutations in dynamin 2 cause dominant centronuclear myopathy].
Médecine sciences : M/S 2006;22(2):101-2.
2006: Nacim Louhichi; Pascale Richard; C H Triki; M Meziou; Hammadi Ayadi; Pascale Guicheney; Faiza Fakhfakh
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.
2006: Guglielmina Pepe; Laura Lucarini; Rui-Zhu Zhang; Te-Cheng Pan; Betti Giusti; Susana Quijano-Roy; Corine Gartioux; K M D Bushby; Pascale Guicheney; Mon-Li Chu
COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy.
Annals of neurology 2006;59(1):190-5.
2006: Stefano Squarzoni; Patrizia Sabatelli; Natascha Bergamin; Pascale Guicheney; Ercan Demir; Luciano Merlini; Giovanna Lattanzi; Andrea Ognibene; Cristina Capanni; Elisabetta Mattioli; Marta Columbaro; Paolo Bonaldo; Nadir M Maraldi
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.
2005: Alex V Postma; Isabelle Denjoy; J Kamblock; Marielle Alders; Jean-Marc Lupoglazoff; Guy Vaksmann; L Dubosq-Bidot; Pascale Sebillon; marcel mannens; Pascale Guicheney; Arthur A M Wilde
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.
Journal of medical genetics 2005;42(11):863-70.
2005: Marc Bitoun; Svetlana Maugenre; Pierre-Yves Jeannet; Emmanuelle Lacène; Xavier Ferrer; Pascal Laforêt; Jean-Jacques Martin; Jocelyn Laporte; Hanns Lochmüller; Alan H Beggs; Michel Fardeau; Bruno Eymard; Norma B Romero; Pascale Guicheney
Mutations in dynamin 2 cause dominant centronuclear myopathy.
Nature genetics 2005;37(11):1207-9.
2005: Laetitia Gouas; Viviane Nicaud; Myriam Berthet; Anne Forhan; Laurence Tiret; Beverley Balkau; Pascale Guicheney
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: Norma B Romero; Muriel Herasse; Nicole Monnier; Jean-Paul Leroy; Dirk Fischer; Ana Ferreiro; Louis Viollet; Bruno Eymard; Pascal Laforêt; Soledad Monges; Fabiana Lubieniecki; Ana Lia Taratuto; Pascale Guicheney; Joël Lunardi; Michel Fardeau
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: Mariz Vainzof; Pascale Richard; Ralf Herrmann; Cecilia Jimenez-Mallebrera; Beril Talim; Lydia U Yamamoto; Céline Ledeuil; Rachael Mein; Stephen Abbs; Martin Brockington; Norma B Romero; Mayana Zatz; Haluk Topaloglu; Thomas Voit; Caroline Sewry; Francesco Muntoni; Pascale Guicheney; Fernando M S Tomé
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: Dagmar I Keller; Fatima-Zahara Barrane; Laetitia Gouas; Johannie Martin; Sylvie Pilote; Vivian Suarez; Stefan Osswald; Marijke Brink; Pascale Guicheney; Nicola Schwick; Mohamed Chahine
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: Betti Giusti; Laura Lucarini; Valentina Pietroni; Simona Lucioli; Brunella Bandinelli; Patrizia Sabatelli; Stefano Squarzoni; Stefania Petrini; Corine Gartioux; Beril Talim; Filip Roelens; Luciano Merlini; Haluk Topaloglu; Enrico Bertini; Pascale Guicheney; Guglielmina Pepe
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.
Annals of neurology 2005;58(3):400-10.
2005: Dagmar I Keller; Jean-Sébastien Rougier; Jan P Kucera; Nawal Benammar; Véronique Fressart; Pascale Guicheney; Alois Madle; Martin Fromer; Jürg Schläpfer; Hugues Abriel
Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations.
Cardiovascular research 2005;67(3):510-9.
2005: Adele D'Amico; Göknur Haliloglu; Pascale Richard; Beril Talim; Svetlana Maugenre; Ana Ferreiro; Pascale Guicheney; Immacolata Menditto; Sara Benedetti; Enrico Bertini; Gisèle Bonne; Haluk Topaloglu
Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.
Neuromuscular disorders : NMD 2005;15(8):521-4.
2005: Isabelle Denjoy; A Postma; Jean-Marc Lupoglazoff; G Vaksman; J Kamblock; Antoine Leenhardt; A A Wilde; Pascale Guicheney
[Catecholinergic ventricular tachycardia in children].
Archives des maladies du coeur et des vaisseaux 2005;98(5):506-12.
2005: Fabrice Extramiana; Isabelle Denjoy; Fabio Badilini; Iheb Chabani; Nathalie Neyroud; Myriam Berthet; Véronique Fressard; Pascale Guicheney; Philippe Beaufils; Antoine Leenhardt; Philippe Coumel; Pierre Maison-Blanche
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: Heinz Jungbluth; Alan Beggs; Carsten G Bönnemann; Kate Bushby; Chantal Ceuterick-de Groote; Brigitte Estournet-Mathiaud; Nathalie Goemans; Pascale Guicheney; Alain Lescure; Joël Lunardi; Francesco Muntoni; Ros Quinlivan; Caroline Sewry; Volker Straub; Susan Treves; Ana Ferreiro
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: Elisabeth Villain; Isabelle Denjoy; Jean-Marc Lupoglazoff; Pascale Guicheney; Bernard Hainque; V Lucet; Damien Bonnet
Low incidence of cardiac events with beta-blocking therapy in children with long QT syndrome.
European heart journal 2004;25(16):1405-11.
2004: Laetitia Gouas; Chloé Bellocq; Myriam Berthet; Franck Potet; Sophie Demolombe; Anne Forhan; Rachel Lescasse; Françoise Simon; Beverley Balkau; Isabelle Denjoy; Bernard Hainque; Isabelle Baro; Pascale Guicheney
New KCNQ1 mutations leading to haploinsufficiency in a general population; Defective trafficking of a KvLQT1 mutant.
Cardiovascular research 2004;63(1):60-8.
2004: E Bertini; Valérie Biancalana; Alessandra Bolino; Anna Buj-Bello; M Clague; Pascale Guicheney; Heinz Jungbluth; Wolfram Kress; A Musaro'; Harshal H Nandurkar; Luciano Pirola; Norma B Romero; J Senderek; U Suter; Caroline Sewry; H Tronchere; Carina Wallgren-Pettersson; Matthew J Wishart; Jocelyn Laporte
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: Jean-Sylvain Hermida; Isabelle Denjoy; Jérôme Clerc; Fabrice Extramiana; Geneviève Jarry; Paul Milliez; Pascale Guicheney; Stefania Di Fusco; Jean-Luc Rey; Bruno Cauchemez; Antoine Leenhardt
Hydroquinidine therapy in Brugada syndrome.
Journal of the American College of Cardiology 2004;43(10):1853-60.
2004: P-Y Jeannet; guillaume bassez; Bruno Eymard; Pascal Laforêt; J Andoni Urtizberea; Andrée Rouche; Pascale Guicheney; Michel Fardeau; Norma B Romero
Clinical and histologic findings in autosomal centronuclear myopathy.
Neurology 2004;62(9):1484-90.
2004: Jean-Marc Lupoglazoff; Isabelle Denjoy; Elisabeth Villain; Véronique Fressart; I Legall-Petit; André Bozio; Myriam Berthet; Nawal Benammar; Bernard Hainque; Pascale Guicheney
[Neonatal forms of congenital long QT syndrome].
Archives des maladies du coeur et des vaisseaux 2004;97(5):479-83.
2004: Ana Ferreiro; Chantal Ceuterick-de Groote; Jared J Marks; Nathalie Goemans; Gudrun Schreiber; Folker Hanefeld; Michel Fardeau; Jean-Jacques Martin; Hans H Goebel; Pascale Richard; Pascale Guicheney; Carsten G Bönnemann
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: E Demir; Ana Ferreiro; Patrizia Sabatelli; Valérie Allamand; Samira Makri; Bernard Echenne; M Maraldi; Luciano Merlini; Haluk Topaloglu; Pascale Guicheney
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: Jean-Marc Lupoglazoff; Isabelle Denjoy; Elisabeth Villain; Véronique Fressart; Françoise Simon; André Bozio; Myriam Berthet; Nawal Benammar; Bernard Hainque; Pascale Guicheney
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: Susana Quijano-Roy; Francis Renault; Norma B Romero; Pascale Guicheney; Michel Fardeau; Brigitte Estournet
EMG and nerve conduction studies in children with congenital muscular dystrophy.
Muscle & nerve 2004;29(2):292-9.
2004: Nacim Louhichi; Chahnez Triki; Susana Quijano-Roy; Pascale Richard; Samira Makri; Mériem Méziou; Brigitte Estournet; Slah Mrad; Norma B Romero; Hammadi Ayadi; Pascale Guicheney; Faiza Fakhfakh
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: Dagmar I Keller; Said Acharfi; Etienne Delacrétaz; Nawal Benammar; Martin Rotter; Jean Pierre Pfammatter; Véronique Fressart; Pascale Guicheney; Mohamed Chahine
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: Francesco Muntoni; B Valero de Bernabe; R Bittner; D Blake; H van Bokhoven; Martin Brockington; S Brown; Kate Bushby; Kevin P Campbell; M Fiszman; S Gruenewald; Luciano Merlini; Susana Quijano-Roy; Norma B Romero; Patrizia Sabatelli; Caroline A Sewry; Volker Straub; Beril Talim; Haluk Topaloglu; Thomas Voit; Peter D Yurchenco; J Andoni Urtizberea; Ulla M Wewer; Pascale Guicheney
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: Alejandro N Mazzadi; Xavier André-Fouët; Jérôme Duisit; Véronique Gebuhrer; Nicolas Costes; Philippe Chevalier; Claire Rodriguez; Jean-Jacques Schott; Hervé Le Marec; Pascale Guicheney; Didier Le Bars; Marc Janier
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: Jean-Marc Lupoglazoff; Isabelle Denjoy; Pascale Guicheney
[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: Nathalie Petit; Alain Lescure; Mathieu REDERSTORFF; Alain Krol; Behzad Moghadaszadeh; Ulla M Wewer; Pascale Guicheney
Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern.
Human molecular genetics 2003;12(9):1045-53.
2003: Eugenio Mercuri; Martin Brockington; Volker Straub; Susana Quijano-Roy; Yeliz Yuva; Ralf Herrmann; Susan C Brown; Silvia Torelli; Victor Dubowitz; Derek J Blake; Norma B Romero; Brigitte Estournet; Caroline A Sewry; Pascale Guicheney; Thomas Voit; Francesco Muntoni
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
Annals of neurology 2003;53(4):537-42.
2003: Sylvie Besse; Valérie Allamand; Jean-Thomas Vilquin; Zhenlin Li; Christophe Poirier; Nicolas Vignier; Hisae Hori; Jean-Louis Guénet; Pascale Guicheney
Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin alpha2 chain gene.
Neuromuscular disorders : NMD 2003;13(3):216-22.
2002: Guglielmina Pepe; Enrico Bertini; Paolo Bonaldo; Kate Bushby; Betti Giusti; Marianne De Visser; Pascale Guicheney; Giovanna Lattanzi; Luciano Merlini; Francesco Muntoni; Ichizo Nishino; Ikuya Nonaka; R Ben Yaou; Patrizia Sabatelli; Caroline Sewry; Haluk Topaloglu; Anneke J van der Kooi
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: Francesco Muntoni; Enrico Bertini; Carsten G Bönnemann; Martin Brockington; S Brown; Kate Bushby; M Fiszman; C Körner; Eugenio Mercuri; Luciano Merlini; J Hewitt; Susana Quijano-Roy; Norma B Romero; Stefano Squarzoni; Caroline A Sewry; Volker Straub; Haluk Topaloglu; Göknur Haliloglu; Thomas Voit; Ulla M Wewer; Pascale Guicheney
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: Alex V Postma; Isabelle Denjoy; Theo M Hoorntje; Jean-Marc Lupoglazoff; Antoine Da Costa; Pascale Sebillon; marcel mannens; Arthur A M Wilde; Pascale Guicheney
Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia.
Circulation research 2002;91(8):e21-6.
2002: Eugenio Mercuri; Beril Talim; Behzad Moghadaszadeh; Nathalie Petit; Martin Brockington; Serena Counsell; Pascale Guicheney; Francesco Muntoni; Luciano Merlini
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: Ana Ferreiro; Susana Quijano-Roy; Claire Pichereau; Behzad Moghadaszadeh; Nathalie Goemans; Carsten G Bönnemann; Heinz Jungbluth; Volker Straub; Marcello Villanova; Jean-Paul Leroy; Norma B Romero; Jean-Jacques Martin; Francesco Muntoni; Thomas Voit; Brigitte Estournet; Pascale Richard; Michel Fardeau; Pascale Guicheney
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: Ana Ferreiro; Nicole Monnier; Norma B Romero; Jean-Paul Leroy; Carsten G Bönnemann; Christine Haenggeli; Volker Straub; Wolfgang D Voss; Yves Nivoche; Heinz Jungbluth; Arnaud Lemainque; Thomas Voit; Joël Lunardi; Michel Fardeau; Pascale Guicheney
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: Susana Quijano-Roy; Lucía Galan; Ana Ferreiro; Fawzia Cheliout-Héraut; Françoise Gray; Michel Fardeau; Annie Barois; Pascale Guicheney; Norma B Romero; Brigitte Estournet
Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency.
Neuromuscular disorders : NMD 2002;12(5):466-75.
2002: Ercan Demir; Patrizia Sabatelli; Valérie Allamand; Ana Ferreiro; Behzad Moghadaszadeh; Mohamed Makrelouf; Haluk Topaloglu; Bernard Echenne; Luciano Merlini; Pascale Guicheney
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.
American journal of human genetics 2002;70(6):1446-58.
2002: Jean-Marc Lupoglazoff; Isabelle Denjoy; T Cheav; Myriam Berthet; Fabrice Extramiana; Bruno Cauchemez; Elisabeth Villain; Antoine Leenhardt; Pascale Guicheney
[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: Valérie Allamand; Pascale Guicheney
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: Francesco Muntoni; Pascale Guicheney
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: Martin Brockington; Derek J Blake; Paola Prandini; Susan C Brown; Silvia Torelli; Matthew A Benson; Chris P Ponting; Brigitte Estournet; Norma B Romero; Eugenio Mercuri; Thomas Voit; Caroline A Sewry; Pascale Guicheney; Francesco Muntoni
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: Y He; K J Jones; Nicolas Vignier; G Morgan; M Chevallay; Annie Barois; Brigitte Estournet-Mathiaud; H Hori; T Mizuta; Fernando M S Tomé; K N North; Pascale Guicheney
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study.
Neurology 2001;57(7):1319-22.
2001: Behzad Moghadaszadeh; Nathalie Petit; C Jaillard; Martin Brockington; S Quijano Roy; Luciano Merlini; Norma B Romero; Brigitte Estournet; Isabelle Desguerre; D Chaigne; Francesco Muntoni; Haluk Topaloglu; Pascale Guicheney
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
Nature genetics 2001;29(1):17-8.
2001: Jean-Marc Lupoglazoff; T Cheav; Ghayath Baroudi; Myriam Berthet; Isabelle Denjoy; Bruno Cauchemez; Fabrice Extramiana; Mohamed Chahine; Pascale Guicheney
Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block.
Circulation research 2001;89(2):E16-21.
2001: Ghayath Baroudi; Valerie Pouliot; Isabelle Denjoy; Pascale Guicheney; A Shrier; Mohamed Chahine
Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G).
Circulation research 2001;88(12):E78-83.
2001: Jean-Marc Lupoglazoff; Isabelle Denjoy; Myriam Berthet; Bernard Hainque; Guy Vaksmann; Didier Klug; Elisabeth Villain; V Lucet; Pascale Guicheney; Philippe Coumel
[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: Jean-Marc Lupoglazoff; Isabelle Denjoy; Pascale Guicheney; A Casasoprana; Philippe Coumel
[Congenital long QT syndrome].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2001;8(5):525-34.
2001: Claudia Di Blasi; Y He; Lucia Morandi; Ferdinando Cornelio; Pascale Guicheney; Marina Mora
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: Jean-Marc Lupoglazoff; Isabelle Denjoy; Myriam Berthet; Nathalie Neyroud; L Demay; Pascale Richard; Bernard Hainque; Guy Vaksmann; Didier Klug; Antoine Leenhardt; G Maillard; Philippe Coumel; Pascale Guicheney
Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations.
Circulation 2001;103(8):1095-101.
2000: Beril Talim; Ana Ferreiro; Bru Cormand; N Vignier; A Oto; S Göğüş; A Cila; Anna-Elina Lehesjoki; Helena Pihko; Pascale Guicheney; H Topaloğlu
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: Marcello Villanova; Eugenio Mercuri; Enrico Bertini; Patrizia Sabatelli; Lucia Morandi; M Mora; Caroline Sewry; Martin Brockington; S C Brown; Ana Ferreiro; N M Maraldi; T Toda; Pascale Guicheney; Luciano Merlini; F Muntoni
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: Ana Ferreiro; Brigitte Estournet; Danielle Chateau; Norma B Romero; C Laroche; S Odent; Annick Toutain; A Cabello; D Fontan; H G dos Santos; Christine Haenggeli; Enrico Bertini; J Andoni Urtizberea; Pascale Guicheney; Michel Fardeau
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases.
Annals of neurology 2000;48(5):745-57.
2000: Claudia Di Blasi; Marina Mora; Davide Pareyson; Laura Farina; Angelo Sghirlanzoni; Nicolas Vignier; F Blasevich; Ferdinando Cornelio; Pascale Guicheney; Lucia Morandi
Partial laminin alpha2 chain deficiency in a patient with myopathy resembling inclusion body myositis.
Annals of neurology 2000;47(6):811-6.
2000: Michel Fardeau; Patrick Vicart; A Caron; D Chateau; M Chevallay; H Collin; Françoise Chapon; Denis Duboc; Bruno Eymard; Fernando M S Tomé; Jean-Marie Dupret; D Paulin; Pascale Guicheney
[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: Isabelle Deschênes; Ghayath Baroudi; Myriam Berthet; I Barde; T Chalvidan; Isabelle Denjoy; Pascale Guicheney; Mohamed Chahine
Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes.
Cardiovascular research 2000;46(1):55-65.
2000: C Chouabe; Nathalie Neyroud; Pascale Richard; Isabelle Denjoy; Bernard Hainque; Georges Romey; Milou-Daniel Drici; Pascale Guicheney; Jacques Barhanin
Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.
Cardiovascular research 2000;45(4):971-80.
1999: Behzad Moghadaszadeh; Haluk Topaloglu; Luciano Merlini; Francesco Muntoni; Brigitte Estournet; Caroline Sewry; IS Naom; Annie Barois; Michel Fardeau; Fernando M S Tomé; Pascale Guicheney
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome.
Neuromuscular disorders : NMD 1999;9(6-7):376-82.
1999: A Murray; C Donger; CD Fenske; I Spillman; Pascale Richard; Yanbin Dong; Nathalie Neyroud; Philippe Chevalier; Isabelle Denjoy; N Carter; Petros Syrris; Ali R Afzal; Michael A Patton; Pascale Guicheney; Steve Jeffery
Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts.
Circulation 1999;100(10):1077-84.
1999: Nicolas Vignier; Behzad Moghadaszadeh; F Gary; Jacques Beckmann; U Mayer; Pascale Guicheney
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: Isabelle Denjoy; Jean-Marc Lupoglazoff; C Donger; Myriam Berthet; Pascale Richard; Nathalie Neyroud; Elisabeth Villain; V Lucet; Philippe Coumel; Pascale Guicheney
[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: R Mohammad-Panah; Sophie Demolombe; N Neyroud; Pascale Guicheney; Florence Kyndt; M van den Hoff; Isabelle Baro; Denis Escande
Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias.
American journal of human genetics 1999;64(4):1015-23.
1999: Myriam Berthet; Isabelle Denjoy; C Donger; L Demay; H Hammoude; Didier Klug; Eric Schulze-Bahr; Pascale Richard; H Funke; Ketty Schwartz; Philippe Coumel; Bernard Hainque; Pascale Guicheney
C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.
Circulation 1999;99(11):1464-70.
1999: Nathalie Neyroud; Pascale Richard; Nicolas Vignier; C Donger; Isabelle Denjoy; L Demay; M Shkolnikova; R Pesce; Philippe Chevalier; Bernard Hainque; Philippe Coumel; Ketty Schwartz; Pascale Guicheney
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: C Donger; krejci eric; A P Serradell; B Eymard; Suzanne Bon; S Nicole; D Chateau; F Gary; Michel Fardeau; Jean Massoulié; Pascale Guicheney
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: Patrick Vicart; A Caron; Pascale Guicheney; Zhenlin Li; Marie-Christine Prévost; A Faure; D Chateau; Françoise Chapon; Fernando M S Tomé; Jean-Marie Dupret; D Paulin; Michel Fardeau
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.
Nature genetics 1998;20(1):92-5.
1998: Jean-Marc Lupoglazoff; Isabelle Denjoy; Nathalie Neyroud; Pascale Guicheney; A Casasoprana; Philippe Coumel
[Congenital long QT syndrome].
Presse médicale (Paris, France : 1983) 1998;27(21):1029-34.
1998: Behzad Moghadaszadeh; Isabelle Desguerre; Haluk Topaloglu; Francesco Muntoni; S Pavek; Caroline Sewry; M Mayer; Michel Fardeau; Fernando M S Tomé; Pascale Guicheney
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: H Topaloğlu; Beril Talim; N Vignier; AH Helbling-Leclerc; M Yetük; I E Afşin; M Cağlar; Gülsev Kale; Pascale Guicheney
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: Nathalie Neyroud; Isabelle Denjoy; C Donger; F Gary; Elisabeth Villain; Antoine Leenhardt; K Benali; Ketty Schwartz; Philippe Coumel; Pascale Guicheney
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: Pascale Guicheney; Nicolas Vignier; X Zhang; Y He; C Cruaud; V Frey; AH Helbling-Leclerc; Pascale Richard; Brigitte Estournet; Luciano Merlini; Haluk Topaloglu; Marina Mora; J P Harpey; Christine Haenggeli; Annie Barois; Bernard Hainque; Ketty Schwartz; Fernando M S Tomé; Michel Fardeau; K Tryggvason
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: Frédérique Tesson; Pascale Richard; Philippe Charron; B Mathieu; C Cruaud; Lucie Carrier; Olivier Dubourg; N Lautié; Michel Desnos; Alain Millaire; Richard Isnard; Albert A Hagege; Jean-Brieuc Bouhour; Mohamed Bennaceur; Bernard Hainque; Pascale Guicheney; Ketty Schwartz; Michel Komajda
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.
1998: Nathalie Neyroud; Pierre Maison-Blanche; Isabelle Denjoy; S Chevret; C Donger; E Dausse; Jocelyne Fayn; Fabio Badilini; N Menhabi; Ketty Schwartz; Pascale Guicheney; Philippe Coumel
Diagnostic performance of QT interval variables from 24-h electrocardiography in the long QT syndrome.
European heart journal 1998;19(1):158-65.
1997: C Donger; Isabelle Denjoy; Myriam Berthet; Nathalie Neyroud; C Cruaud; Mohamed Bennaceur; G Chivoret; Ketty Schwartz; Philippe Coumel; Pascale Guicheney
KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
Circulation 1997;96(9):2778-81.
1997: C Chouabe; Nathalie Neyroud; Pascale Guicheney; Michel Lazdunski; Georges Romey; Jacques Barhanin
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: Pascale Guicheney; Nicolas Vignier; AH Helbling-Leclerc; M Nissinen; X Zhang; C Cruaud; J C Lambert; C Richelme; Haluk Topaloglu; Luciano Merlini; Annie Barois; Ketty Schwartz; Fernando M S Tomé; K Tryggvason; Michel Fardeau
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: IS Naom; M D'Alessandro; Caroline Sewry; Alessandra Ferlini; Haluk Topaloglu; AH Helbling-Leclerc; Pascale Guicheney; Ketty Schwartz; Zuhal Akcoren; Victor Dubowitz; Francesco Muntoni
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: Frédérique Tesson; C Dufour; J C Moolman; Lucie Carrier; S al-Mahdawi; L Chojnowska; Olivier Dubourg; E Soubrier; P Brink; Michel Komajda; Pascale Guicheney; Ketty Schwartz; Josué Feingold
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: IS Naom; M D'Alessandro; Haluk Topaloglu; Caroline Sewry; Alessandra Ferlini; AH Helbling-Leclerc; Pascale Guicheney; J Weissenbach; Ketty Schwartz; Kate Bushby; J Philpot; Victor Dubowitz; Francesco Muntoni
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: Nathalie Neyroud; F Tesson; Isabelle Denjoy; M Leibovici; C Donger; Jacques Barhanin; S Fauré; F Gary; Philippe Coumel; C Petit; Ketty Schwartz; Pascale Guicheney
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: Philippe Charron; Lucie Carrier; Olivier Dubourg; Frédérique Tesson; Michel Desnos; Pascale Richard; Gisèle Bonne; Pascale Guicheney; Bernard Hainque; Jean-Brieuc Bouhour; A Mallet; Josué Feingold; Ketty Schwartz; Michel Komajda
Penetrance of familial hypertrophic cardiomyopathy.
Genetic counseling (Geneva, Switzerland) 1997;8(2):107-14.
1996: Frédérique Tesson; C Donger; Isabelle Denjoy; Myriam Berthet; Mohamed Bennaceur; C Petit; Philippe Coumel; K Schwarts; Pascale Guicheney
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: E Dausse; Myriam Berthet; Isabelle Denjoy; X André-Fouet; C Cruaud; Mohamed Bennaceur; S Fauré; Philippe Coumel; Ketty Schwartz; Pascale Guicheney
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: M Nissinen; AH Helbling-Leclerc; X Zhang; T Evangelista; Haluk Topaloglu; C Cruaud; Jean Weissenbach; M Fardeau; Fernando M S Tomé; Ketty Schwartz; Karl Tryggvason; Pascale Guicheney
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: M Fardeau; Fernando M S Tomé; AH Helbling-Leclerc; T Evangelista; A Ottolini; M Chevallay; Annie Barois; Brigitte Estournet; J P Harpey; S Fauré; Pascale Guicheney; D Hillaire
[Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis].
Revue neurologique 1996;152(1):11-9.
1995: E Dausse; Isabelle Denjoy; Pascal Kahlem; Mohamed Bennaceur; S Fauré; J Weissenbach; Philippe Coumel; Ketty Schwartz; Pascale Guicheney
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: Ketty Schwartz; Lucie Carrier; Pascale Guicheney; Michel Komajda
Molecular basis of familial cardiomyopathies.
Circulation 1995;91(2):532-40.
1994: Albert A Hagège; Michel Desnos; Michel Komajda; Olivier Dubourg; Richard Isnard; Pascale Guicheney; Ketty Schwartz; R A Lévine
[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: D Hillaire; A Leclerc; S Fauré; Haluk Topaloglu; N Chiannilkulchaï; Pascale Guicheney; L Grinas; P Legos; J Philpot; T Evangelista
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping.
Human molecular genetics 1994;3(9):1657-61.
1994: C Dufour; E Dausse; L Fetler; Olivier Dubourg; Jean-Brieuc Bouhour; H P Vosberg; Pascale Guicheney; Michel Komajda; Ketty Schwartz
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: Lucie Carrier; C Hengstenberg; Jacques Beckmann; Pascale Guicheney; C Dufour; J Bercovici; E Dausse; I Berebbi-Bertrand; C Wisnewsky; D Pulvenis
Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11.
Nature genetics 1993;4(3):311-3.
1993: Rossella Rota; J Timsit; T Hannedouche; A Ikeni; C Boitard; Pascale Guicheney
Erythrocyte Na+/Li+ countertransport and glomerular hyperfiltration in insulin-dependent diabetics.
American journal of hypertension 1993;6(6 Pt 1):534-7.
1993: K Soussan; E Dausse; T Hannedouche; J Timsit; F Lemoult; C Boitard; Jean-Pierre Grünfeld; Pascale Guicheney
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: Pascale Guicheney; K Soussan; E Dausse; Rossella Rota
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: Rossella Rota; C Nazaret; J G Henrotte; Ricardo P Garay; Pascale Guicheney
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: K Soussan; T Hannedouche; C Boitard; Jean-Pierre Grünfeld; Pascale Guicheney
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: Jean-Marie Moalic; C Bauters; D Himbert; J Bercovici; Christian Mouas; Pascale Guicheney; M Baudoin-Legros; Lydie Rappaport; R Emanoil-Ravier; V Mezger
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.