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
Cloning of the gene for autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7) reveals a highly unstable CAG repeat expansion
Gilles David,Nacer Abbas,Giovanni Stevanin,Alexandra Durr,Gaël Yvert,Géraldine Cancel,Chantal Weber,Georges Imbert,Frédéric Saudou,Eric Antoniou,Harry A. Drabkin,Robert M. Gemmill,Paola Giunti,Ali Benomar,Nicholas W. Wood,Merle Ruberg,Yves Agid,Jean-Louis Mandel,Alexis Brice +18 more
Posted ContentDOI
AAV-delivery of diacylglycerol kinase kappa achieves long-term rescue of Fmr1-KO mouse model deficits of fragile X syndrome
Habbas K,Cakil O,Zambo B,Ricardos Tabet,Riet F,Doulaye Dembélé,Jean-Louis Mandel,Hocquemiller M,Laufer R,Françoise Piguet,Hervé Moine +10 more
TL;DR: In this paper, the authors used adeno-associated viral vectors to correct brain diacylglycerol and phosphatidic acid homeostasis and the main phenotypic behaviors of the Fmr1-KO mouse model of Fragile X syndrome.
Journal ArticleDOI
Le syndrome du retard mental avec X fragile
Journal ArticleDOI
Le gène de l'ataxie de Friedreich: des applications diagnostiques et une controverse sans fondement.
Posted ContentDOI
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Jérémie Courraud,Eric Chater-Diehl,Benjamin Durand,Marie Vincent,Maria del Mar Muniz Moreno,Imene Boujelbene,Nathalie Drouot,Loréline Genschik,Elise Schaefer,Mathilde Nizon,Bénédicte Gérard,Marc Abramowicz,Benjamin Cogné,Lucas Bronicki,Lydie Burglen,Magalie Barth,Perrine Charles,Estelle Colin,Christine Coubes,Albert David,Bruno Delobel,Florence Demurger,Sandrine Passemard,Anne-Sophie Denommé,Laurence Faivre,Claire Feger,Mélanie Fradin,Christine Francannet,David Geneviève,Alice Goldenberg,Anne-Marie Guerrot,Bertrand Isidor,Katrine M Johannesen,Boris Keren,Maria Kibaek,Paul Kuentz,Michèle Mathieu-Dramard,Bénédicte Demeer,Julia Metreau,Rikke S. Møller,Sébastien Moutton,Laurent Pasquier,Kristina Pilekær Sørensen,Laurence Perrin,Mathilde Renaud,Pascale Saugier,Joane Svane,Julien Thevenon,Frederic Tran Mau Them,Cathrine Elisabeth Tronhjem,Antonio Vitobello,Valérie Layet,Marie-Christine Birling,Séverine Drunat,Allan Bayat,Christèle Dubourg,Salima El Chehadeh,Christina Fagerberg,Cyril Mignot,Michel Guipponi,Thierry Bienvenu,Yann Herault,Julie D. Thompson,Marjolaine Willems,Jean-Louis Mandel,Rosanna Weksberg,Amélie Piton +66 more
TL;DR: In this paper, a combination of tools were developed to interpret missense variants, which remains a major challenge in human genetics: i) a specific DYRK 1A clinical score, ii) amino acid conservation data generated from one hundred of DYR 1A sequences across different taxa, iii) in vitro overexpression assays to study level, cellular localization, and kinase activity of Dyr 1A mutant proteins, and iv) specific blood DNA methylation signature.