P
Pascale Guicheney
Researcher at University of Paris
Publications - 289
Citations - 22035
Pascale Guicheney is an academic researcher from University of Paris. The author has contributed to research in topics: Sudden death & Congenital muscular dystrophy. The author has an hindex of 58, co-authored 283 publications receiving 20561 citations. Previous affiliations of Pascale Guicheney include Pierre-and-Marie-Curie University & Institute of Chartered Accountants of Nigeria.
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Journal ArticleDOI
Genotype-Phenotype Correlation in the Long-QT Syndrome Gene-Specific Triggers for Life-Threatening Arrhythmias
Peter J. Schwartz,Silvia G. Priori,Carla Spazzolini,Arthur J. Moss,G. Michael Vincent,Carlo Napolitano,Isabelle Denjoy,Pascale Guicheney,Günter Breithardt,Mark T. Keating,Jeffrey A. Towbin,Alan H. Beggs,Paul A. Brink,Arthur A.M. Wilde,Lauri Toivonen,Wojciech Zareba,Jennifer L. Robinson,Katherine W. Timothy,Valerie A. Corfield,Duangrurdee Wattanasirichaigoon,Clive Corbett,Wilhelm Haverkamp,Eric Schulze-Bahr,Michael H. Lehmann,Ketty Schwartz,Philippe Coumel,Raffaella Bloise +26 more
TL;DR: Life-threatening arrhythmias in LQTS patients tend to occur under specific circumstances in a gene-specific manner, allowing new insights into the mechanisms that relate the electrophysiological consequences of mutations on specific genes to clinical manifestations and offer the possibility of complementing traditional therapy with gene- specific approaches.
Journal ArticleDOI
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.
Patrick Vicart,Patrick Vicart,Anne Caron,Pascale Guicheney,Zhenlin Li,Zhenlin Li,Marie-Christine Prévost,Armelle Faure,Danielle Chateau,Françoise Chapon,Fernando M.S. Tomé,Jean-Marie Dupret,Denise Paulin,Denise Paulin,Michel Fardeau +14 more
TL;DR: These results are the first to identify a defect in a molecular chaperone as a cause for an inherited human muscle disorder, and an R120G missense mutation in CRYAB that co-segregates with the disease phenotype in this family.
Journal ArticleDOI
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome
Nathalie Neyroud,F. Tesson,Isabelle Denjoy,Michel Leibovici,Claire Donger,Jacques Barhanin,Sabine Fauré,Françoise Gary,Philippe Coumel,Christine Petit,Ketty Schwartz,Pascale Guicheney +11 more
TL;DR: Data indicate that KVLQT1 is responsible for both JLN and RW syndromes and has a key role not only in the ventricular repolarization but also in normal hearing, probably via the control of endolymph homeostasis.
Journal ArticleDOI
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
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,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,Benjamin A. Salisbury,Pascale Guicheney,Arthur A.M. Wilde,Ramon Brugada,Jean-Jacques Schott,Jean-Jacques Schott,Jean-Jacques Schott,Michael J. Ackerman +31 more
TL;DR: Overall, 21% of BrS probands have mutations in SCN5A compared to the 2% to 5% background rate of rare variants reported in healthy control subjects, which may help further distinguish pathogenic mutations from similarly rare but otherwise innocuous ones found in cases.
Journal ArticleDOI
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.
Martin Brockington,Derek J. Blake,Paola Prandini,Susan C. Brown,Silvia Torelli,Silvia Torelli,Matthew A. Benson,Chris P. Ponting,Brigitte Estournet,Norma B. Romero,Eugenio Mercuri,Thomas Voit,Caroline Sewry,Caroline Sewry,Pascale Guicheney,Francesco Muntoni +15 more
TL;DR: It is suggested that abnormalities of alpha-dystroglycan are caused by its defective glycosylation and are integral to the pathology seen in MDC1C, which is mapped to human chromosome 19q13.