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.
Papers
More filters
Journal ArticleDOI
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
Claire Redin,Bénédicte Gérard,Julia Lauer,Yvan Herenger,Jean Muller,Angélique Quartier,Alice Masurel-Paulet,Marjolaine Willems,Gaetan Lesca,Salima El-Chehadeh,Stéphanie Le Gras,Serge Vicaire,Muriel Philipps,Michael Dumas,Véronique Geoffroy,Claire Feger,Nicolas Haumesser,Yves Alembik,Magalie Barth,Dominique Bonneau,Estelle Colin,Hélène Dollfus,Bérénice Doray,Marie-Ange Delrue,Valérie Drouin-Garraud,Elisabeth Flori,Mélanie Fradin,Christine Francannet,Alice Goldenberg,Serge Lumbroso,Michèle Mathieu-Dramard,Dominique Martin-Coignard,Didier Lacombe,Gilles Morin,Anne Polge,Sylvie Sukno,Christel Thauvin-Robinet,Julien Thevenon,Martine Doco-Fenzy,David Geneviève,Pierre Sarda,Patrick Edery,Bertrand Isidor,Bernard Jost,Laurence Olivier-Faivre,Jean-Louis Mandel,Amélie Piton +46 more
TL;DR: Targeted high-throughput sequencing of 217 genes in which mutations had been reported in patients with ID or autism as the major clinical concern appears relevant as a first intention test for the diagnosis of ID, but importantly will also contribute to a better understanding regarding the specific contribution of the many genes implicated in ID and autism.
Journal ArticleDOI
G–quadruplex RNA structure as a signal for neurite mRNA targeting
TL;DR: The G– quadruplex structure is necessary and sufficient for the potent and fast localization of mRNAs in cortical neurites and this occurs in a metabotropic glutamate receptor‐responsive manner, and G–quadruplex seems to be a common neurite localization signal.
Journal ArticleDOI
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice
Anna Buj-Bello,Vincent Laugel,Nadia Messaddeq,Hala Zahreddine,Jocelyn Laporte,Jean-François Pellissier,Jean-Louis Mandel +6 more
TL;DR: It is demonstrated, through a conditional gene-targeting approach, that skeletal muscle is the primary target of murine XLMTM pathology, and it is shown that muscle differentiation in knockout mice occurs normally, contrary to expectations.
Journal ArticleDOI
A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern
TL;DR: The cloning and characterization of a mouse ALD-related gene (ALDR) is described, which codes for a protein with 66% identity with ALDP and shares the same half transporter structure.
Journal ArticleDOI
Origin of the expansion mutation in myotonic dystrophy.
TL;DR: The results strongly suggest that the initial predisposing event of myotonic dystrophy consisted of a transition from a (CTG)5 allele to anallele with 19 to 30 repeats, which may constitute a reservoir for recurrent DM mutations.