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
Molecular genetics of the fragile-X syndrome: a novel type of unstable mutation.
TL;DR: Direct detection of the mutations provides an accurate test for pre- and postnatal diagnosis of the disease, and for carrier detection, in Fragile-X syndrome and myotonic dystrophy.
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Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.
Angélique Quartier,Jérémie Courraud,Thuong Ha,George McGillivray,Bertrand Isidor,Katherine Rose,Nathalie Drouot,Marie‐Armel Savidan,Claire Feger,Hélène Jagline,Jamel Chelly,Marie Shaw,Frédéric Laumonnier,Jozef Gecz,Jean-Louis Mandel,Amélie Piton +15 more
TL;DR: Overexpression experiments revealed that both missense variants affect the level of the mature NLGN3 protein, its localization at the plasma membrane and its presence as a cleaved form in the extracellular environment, even more drastically than what was reported for the initial p.Arg451Cys mutation.
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Polyglutamine-containing proteins in schizophrenia.
Ridha Joober,Chawki Benkelfat,Jannatipour M,Gustavo Turecki,Samarthji Lal,Jean-Louis Mandel,David E. Bloom,Pierre Lalonde,Iscia Lopes-Cendes,D. Fortin,Guy A. Rouleau +10 more
TL;DR: In this paper, the presence of polyglutamine-expanded tracts, encoded by CAG repeats, in total protein extracts derived from lymphoblastoid cell lines of schizophrenic patients was found.
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Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.
Mireille Cossée,Clotilde Lagier-Tourenne,Claire Seguela,Michel Mohr,Hulya Gundesli,Jamel Chelly,Christine Tranchant,Michel Koenig,Jean-Louis Mandel +8 more
TL;DR: It is reported how homozygosity analysis using a genome-wide SNP array allowed the diagnostic enigma in a patient with a moderate form of LGMD to be solved, confirming that integrity of the C-terminal domain of TRIM32 is necessary for muscle maintenance.