L
L. Brenguier
Researcher at Centre national de la recherche scientifique
Publications - 7
Citations - 1199
L. Brenguier is an academic researcher from Centre national de la recherche scientifique. The author has contributed to research in topics: Gene mapping & Chromosome 21. The author has an hindex of 6, co-authored 7 publications receiving 1168 citations.
Papers
More filters
Journal ArticleDOI
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
Isabelle Richard,Odile Broux,Valéerie Allamand,Françoise Fougerousse,N. Chiannilkulchai,Nathalie Bourg,L. Brenguier,Catherine Devaud,Patricia Pasturaud,Carinne Roudaut,Dominique Hillaire,Maria Rita Passos-Bueno,Mayana Zatz,Jay A. Tischfield,Michel Fardeau,Charles E. Jackson,Daniel Cohen,Jacques S. Beckmann +17 more
TL;DR: An enzymatic rather than a structural protein defect causing a muscular dystrophy is demonstrated, a defect that may have regulatory consequences, perhaps in signal transduction.
Journal Article
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
Isabelle Richard,L. Brenguier,Pervin Dinçer,Carinne Roudaut,B. Bady,J. M. Burgunder,R. Chemaly,Carlos A. Garcia,G. Halaby,Charles E. Jackson,D. M. Kurnit,Gérard Lefranc,C Legum,Jacques Loiselet,Luciano Merlini,A Nivelon-Chevallier,E. Ollagnon-Roman,G. Restagno,Haluk Topaloglu,Jacques S. Beckmann +19 more
TL;DR: Data indicate that muscular dystrophy caused by mutations in CANP3 are found in patients from all countries examined so far and further support the wide heterogeneity of molecular defects in this rare disease.
Journal ArticleDOI
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey
Pervin Dinçer,F Leturcq,Isabelle Richard,F. Piccolo,Dilek Yalnizoglu,C. de Toma,Zuhal Akçören,O. Broux,N. Deburgrave,L. Brenguier,Carinne Roudaut,Jon Andoni Urtizberea,Daniel Jung,Ersin Tan,M. Jeanpierre,Kevin P. Campbell,Jean Kaplan,Jacques S. Beckmann,Haluk Topaloglu +18 more
TL;DR: It appears that in Turkey, there is a broad spectrum of genes and defects involved in LGMD2, and it may be possible to correlate genotype to phenotype inLGMD2.
Journal Article
Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval
V. Allamand,O. Broux,Isabelle Richard,Françoise Fougerousse,N. Chiannilkulchai,Nathalie Bourg,L. Brenguier,Catherine Devaud,Patricia Pasturaud,A.Pereira de Souza,Carinne Roudaut,Jay A. Tischfield,P. M. Conneally,Michel Fardeau,Daniel Cohen,Charles E. Jackson,Jacques S. Beckmann +16 more
TL;DR: Linkage disequilibrium data on genetic isolates from the island of Réunion and from the Amish community suggest a preferential location of the LGMD2A gene in the proximal part of this region, and allelic heterogeneity is incompatible with the presumed existence of a founder effect.
Journal ArticleDOI
Regional Localization of Human Chromosome 15 Loci
Isabelle Richard,Odile Broux,N. Chiannilkulchai,Françoise Fougerousse,Valérie Allamand,Nathalie Bourg,L. Brenguier,Catherine Devaud,Patricia Pasturaud,Carinne Roudaut,Frederic Lorenzo,Corinne Sebastiani-Kabatchis,Roger A. Schultz,Mihaë H. Polymeropoulos,Gabor Gyapay,Charles Auffray,Jacques S. Beckmann +16 more
TL;DR: This work represents the first attempt at an integration of the human physical, expression, and genetic maps of chromosome 15, which was subdivided into 5 regions, yielding an average resolution of more than 1 sequence tagged site per megabase.