G
Gilles David
Researcher at French Institute of Health and Medical Research
Publications - 15
Citations - 2492
Gilles David is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Spinocerebellar ataxia & Trinucleotide repeat expansion. The author has an hindex of 12, co-authored 15 publications receiving 2422 citations.
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Journal ArticleDOI
Cloning of the SCA7 gene 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
TL;DR: Gonadal instability in SCA7 is greater than that observed in any of the seven known neuro-degenerative diseases caused by translated CAG repeat expansions, and is markedly associated with paternal transmissions.
Journal ArticleDOI
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
Yvon Trottier,Yves Lutz,Giovanni Stevanin,Georges Imbert,Didier Devys,Géraldine Cancel,Frédéric Saudou,Chantal Weber,Gilles David,Laszlo Tora,Yves Agid,Alexis Brice,Jean-Louis Mandel +12 more
TL;DR: The characterization of a monoclonal antibody is reported that selectively recognizes polyglutamine expansion in the proteins implicated in HD and in spinocerebellar ataxia (SCA) 1 and 3 and detects specific pathological proteins expected to contain such expansion.
Journal ArticleDOI
Molecular and Clinical Correlations in Autosomal Dominant Cerebellar Ataxia with Progressive Macular Dystrophy (SCA7)
Gilles David,Alexandra Durr,Giovanni Stevanin,Géraldine Cancel,Nacer Abbas,Ali Benomar,Samir Belal,Anne-Sophie Lebre,Myriem Abada-Bendib,D. Grid,Monica Holmberg,Mohamed Yahyaoui,Fayçal Hentati,T. Chkili,Yves Agid,Alexis Brice +15 more
TL;DR: The mutation was highly unstable during transmission, with a mean increase of 10 +/- 16 CAG repeats, which was significantly greater in paternal than in maternal transmissions, and correlated well with the marked anticipation observed in the families.
Journal ArticleDOI
The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1.
A. Benomar,L. Krols,Giovanni Stevanin,Géraldine Cancel,Eric LeGuern,Gilles David,H. Ouhabi,J. J. Martin,Alexandra Durr,A. Zaim,N. Ravisé,C. Busque,C. Penet,N. Van Regemorter,Jean Weissenbach,Mohamed Yahyaoui,T. Chkili,Yves Agid,C. Van Broeckhoven,Alexis Brice +19 more
TL;DR: The results show that ADCA type II is a genetically homogenous disorder, independent of the heterogeneous group of type I cerebellar ataxias.
Journal ArticleDOI
Clinical and molecular features of spinocerebellar ataxia type 6
Giovanni Stevanin,Alexandra Durr,Gilles David,Olivier Didierjean,Géraldine Cancel,S. Rivaud,Ayman Tourbah,J.-M. Warter,Yves Agid,Alexis Brice +9 more
TL;DR: Clinically, SCA6 patients presented with moderate to severe cerebellar ataxia with a lower frequency of associated signs compared with other SCA and a mean age at onset of 45± 14 years (range, 24 to 67).