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Agnès Camuzat
Researcher at PSL Research University
Publications - 98
Citations - 7030
Agnès Camuzat is an academic researcher from PSL Research University. The author has contributed to research in topics: Frontotemporal dementia & Frontotemporal lobar degeneration. The author has an hindex of 41, co-authored 82 publications receiving 6256 citations. Previous affiliations of Agnès Camuzat include Pierre-and-Marie-Curie University & Centre national de la recherche scientifique.
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Journal ArticleDOI
Early-Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum
Dominique Campion,Cécile Dumanchin,Didier Hannequin,Bruno Dubois,Serge Belliard,Michèle Puel,Catherine Thomas-Antérion,A Michon,Cosette Martin,Françoise Charbonnier,G Raux,Agnès Camuzat,C. Penet,Valérie Mesnage,Maria Martinez,Françoise Clerget-Darpoux,Alexis Brice,Thierry Frebourg +17 more
TL;DR: Results show that PSEN1 and APP mutations account for 71% of ADEOAD families and (2) nonpenetrance at age <61 years is probably infrequent for PSen1 or APP mutations.
Journal ArticleDOI
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.
Isabelle Perrault,Jean-Michel Rozet,P Calvas,Sylvie Gerber,Agnès Camuzat,Hélène Dollfus,Sophie Châtelin,Eric H Souied,Imad Ghazi,Corinne Leowski,Michèle Bonnemaison,Le Paslier D,Jean Frézal,J.L. Dufier,Steven J. Pittler,Arnold Munnich,J. C. Kaplan +16 more
TL;DR: Two missense mutations (F589S) and two frameshift mutations (nt 460 del C, nt 693 del C) of the retinal guanylate cyclase gene in four unrelated LCA1 probands of North African ancestry are reported and ascribe LCA 1 to an impaired production of cGMP in the retina, with permanent closure of cGsMP-gated cation channels.
Journal ArticleDOI
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study
Isabelle Le Ber,Agnès Camuzat,Didier Hannequin,Florence Pasquier,Eric Guedj,Anne Rovelet-Lecrux,Valérie Hahn-Barma,Julie van der Zee,Fabienne Clot,Serge Bakchine,Michèle Puel,Mustapha Ghanim,Lucette Lacomblez,Jacqueline Mikol,Vincent Deramecourt,Pascal Lejeune,Vincent de La Sayette,Serge Belliard,Martine Vercelletto,Christian Meyrignac,Christine Van Broeckhoven,Jean-Charles Lambert,Patrice Verpillat,Dominique Campion,Marie-Odile Habert,Bruno Dubois,Alexis Brice,Ftd-Mnd +27 more
TL;DR: Variable phenotypes and neuropsychological profiles, as well as brain perfusion profiles associated with GRN mutations may reflect different patterns of neurodegeneration.
Journal ArticleDOI
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration
Lina Benajiba,Isabelle Le Ber,Agnès Camuzat,M. Lacoste,Catherine Thomas-Antérion,Philippe Couratier,Solenn Legallic,François Salachas,Didier Hannequin,Marielle Decousus,Lucette Lacomblez,Eric Guedj,Véronique Golfier,William Camu,Bruno Dubois,Dominique Campion,Vincent Meininger,Alexis Brice +17 more
TL;DR: TARDBP mutations are described in two patients with FTLD‐MND, presenting with a behavioral variant of FTLD and semantic dementia, suggesting that TDP‐43 may also have a direct pathogenic role in FTLD disorders.
Journal ArticleDOI
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations
Stéphanie Millecamps,François Salachas,Cécile Cazeneuve,Paul H. Gordon,Bernard Bricka,Agnès Camuzat,Lena Guillot-Noel,Odile Russaouen,Gaëlle Bruneteau,Pierre-François Pradat,Nadine Le Forestier,Nadia Vandenberghe,Véronique Danel-Brunaud,Nathalie Guy,Christel Thauvin-Robinet,Lucette Lacomblez,Philippe Couratier,Didier Hannequin,Danielle Seilhean,Isabelle Le Ber,Philippe Corcia,William Camu,Alexis Brice,Guy A. Rouleau,Eric LeGuern,Vincent Meininger +25 more
TL;DR: Clinical comparison of SOD1, TARDBP, FUS and other familial ALS patients (with no mutation in the screened genes) revealed differences in site of onset, age of onset (younger with FUS mutations), and in lifespan (shorter for FUS carriers).