J
Jean-Louis Mandel
Researcher at University of Strasbourg
Publications - 372
Citations - 39716
Jean-Louis Mandel is an academic researcher from University of Strasbourg. The author has contributed to research in topics: Gene & Fragile X syndrome. The author has an hindex of 101, co-authored 362 publications receiving 37522 citations. Previous affiliations of Jean-Louis Mandel include French Institute of Health and Medical Research & Collège de France.
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Journal ArticleDOI
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Johann Böhm,Valérie Biancalana,Elizabeth T. DeChene,Marc Bitoun,Christopher R. Pierson,Elise Schaefer,H. Karasoy,Melissa A Dempsey,Fabrice A.C. Klein,Nicolas Dondaine,Christine Kretz,Nicolas Haumesser,Claire Poirson,Anne Toussaint,Rebecca S. Greenleaf,Melissa A. Barger,Lane J. Mahoney,Peter B. Kang,Edmar Zanoteli,John Vissing,Nanna Witting,Andoni Echaniz-Laguna,Carina Wallgren-Pettersson,James J. Dowling,Luciano Merlini,Anders Oldfors,Lilian Bomme Ousager,Judith Melki,Amanda Krause,Christina Jern,Acary Souza Bulle Oliveira,Florence Petit,Aurélia Jacquette,Annabelle Chaussenot,David Mowat,Bruno Leheup,Michele Cristofano,Juan José Poza Aldea,Fabrice Michel,Alain Furby,Jose E. Barcena Llona,Rudy Van Coster,Enrico Bertini,Jon Andoni Urtizberea,Valérie Drouin-Garraud,Christophe Béroud,Bernard Prudhon,Melanie Bedford,Katherine D. Mathews,Lori H. Erby,Stephen A. Smith,Jennifer Roggenbuck,Carol A. Crowe,Allison Brennan Spitale,Sheila C. Johal,Anthony A. Amato,Laurie A. Demmer,Jessica Jonas,Basil T. Darras,Thomas D. Bird,Mercy Y. Laurino,Selman I. Welt,Cynthia Trotter,Pascale Guicheney,Soma Das,Jean-Louis Mandel,Alan H. Beggs,Jocelyn Laporte +67 more
TL;DR: The possible clinical overlap of CNM and CMT, and the biological significance of the respective mutations based on the known functions of dynamin 2 and its protein structure are discussed.
Journal ArticleDOI
Mutations in the MTM1 Gene Implicated in X-Linked Myotubular Myopathy
Jocelyn Laporte,Christophe Guiraud-Chaumeil,Marie Vincent,Jean-Louis Mandel,Stephan M. Tanner,Sabina Liechti-Gallati,Carina Wallgren-Pettersson,Niklas Dahl,Wolfram Kress,Pieter A. Bolhuis,Michel Fardeau,F. Samson,Enrico Bertini +12 more
TL;DR: More than half of XLMTM mutations are expected to inactivate the putative enzymatic activity of myotubularin, either by truncation or by missense mutations affecting the predicted PTP domain, thus indicating the presence of other functional domains.
Journal ArticleDOI
Two hot spots of recombination in the DMD gene correlate with the deletion prone regions
TL;DR: If markers located at the very 3' end of the gene are not informative, the highly polymorphic ones located between exons 50 and 60 can be used instead of presently available extragenic markers, with a very low risk of diagnostic error due to recombination.
Journal ArticleDOI
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies
Anne Toussaint,Belinda S. Cowling,Karim Hnia,Michel Mohr,Anders Oldfors,Yannick Schwab,Yannick Schwab,Uluç Yiş,Thierry Maisonobe,Tanya Stojkovic,Carina Wallgren-Pettersson,Vincent Laugel,Andoni Echaniz-Laguna,Jean-Louis Mandel,Ichizo Nishino,Jocelyn Laporte +15 more
TL;DR: It is proposed that aberrant BIN1 localization and defects in triad structure are part of a common pathogenetic mechanism shared between the three forms of centronuclear myopathies.
Journal ArticleDOI
30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?
TL;DR: The current and most recent knowledge about the genetics of repeat expansion disorders and the diversity of their pathophysiological mechanisms are summarized and the perspectives of developing personalized treatments in the future are outlined.