I
I. Le Ber
Researcher at ICM Partners
Publications - 22
Citations - 1291
I. Le Ber is an academic researcher from ICM Partners. The author has contributed to research in topics: Frontotemporal dementia & Ataxia. The author has an hindex of 11, co-authored 22 publications receiving 1186 citations. Previous affiliations of I. Le Ber include French Institute of Health and Medical Research.
Papers
More filters
Journal ArticleDOI
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
Maria-Ceu Moreira,S Klur,Mitsunori Watanabe,Andrea H. Németh,I. Le Ber,J C Moniz,Christine Tranchant,Patrick Aubourg,Meriem Tazir,Ludger Schöls,Massimo Pandolfo,Jörg B. Schulz,Jean Pouget,Patrick Calvas,Masami Shizuka-Ikeda,Mikio Shoji,M Tanaka,Louise Izatt,Christopher Shaw,A. M’zahem,Eimear Dunne,Pascale Bomont,Traki Benhassine,Naima Bouslam,Giovanni Stevanin,Alexis Brice,João Tiago Guimarães,P. Mendonça,Clara Barbot,Paula Coutinho,Jorge Sequeiros,Alexandra Durr,J.-M. Warter,Michel Koenig +33 more
TL;DR: The causative mutations in AOA2 are identified in 15 families, which allows this entity to be clinically defined by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein.
Journal ArticleDOI
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
Mathieu Anheim,B. Monga,B. Monga,Marie-Céline Fleury,P. Charles,C. Barbot,Mustafa A. Salih,J. P. Delaunoy,M. Fritsch,Larissa Arning,Matthis Synofzik,Ludger Schöls,Jorge Sequeiros,Cyril Goizet,Cecilia Marelli,I. Le Ber,Jeanette Koht,Jeanette Koht,José Gazulla,J. De Bleecker,Maowia M. Mukhtar,Nathalie Drouot,Lamia Alipacha,Traki Benhassine,M. Chbicheb,A. M’zahem,Abdelmadjid Hamri,Brigitte Chabrol,Jean Pouget,R. Murphy,Mitsunori Watanabe,Paula Coutinho,Meriem Tazir,Alexandra Durr,Alexis Brice,Christine Tranchant,Michel Koenig +36 more
TL;DR: In this article, a series of 67 previously reported and 58 novel ataxic patients who underwent senataxin gene sequencing because of suspected ataxia with oculomotor apraxia type 2 (AOA2) was compiled.
Journal ArticleDOI
Valosin-containing protein gene mutations: clinical and neuropathologic features.
Lucie Guyant-Maréchal,Annie Laquerrière,Charles Duyckaerts,Cécile Dumanchin,Jacqueline Bou,F. Dugny,I. Le Ber,Thierry Frebourg,Didier Hannequin,Dominique Campion +9 more
TL;DR: Biochemical and histopathologic data are consistent with the hypothesis that VCP R155C mutation disrupts normal VCP function, leading to diffuse accumulation of ubiquitinated proteins within the cells, and this mutation is present in two families in which FTD is the most prominent symptom.
Journal ArticleDOI
Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism
P. Charles,Agnès Camuzat,Nawal Benammar,François Sellal,Alain Destée,A. M. Bonnet,Suzanne Lesage,I. Le Ber,Giovanni Stevanin,Alexandra Durr,Alexis Brice +10 more
TL;DR: Uninterrupted SCA2 repeat expansions found in families with autosomal dominant cerebellar ataxia result in somatic mosaicism and produce large hairpin RNAs, which may interact with double-stranded RNA-binding proteins.
Journal ArticleDOI
Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease
I. Le Ber,Agnès Camuzat,Eric Berger,Didier Hannequin,Annie Laquerrière,Véronique Golfier,Danielle Seilhean,Gabriel Viennet,Philippe Couratier,Patrice Verpillat,Simon Heath,William Camu,Olivier Martinaud,Lucette Lacomblez,Martine Vercelletto,François Salachas,François Sellal,Mira Didic,Catherine Thomas-Antérion,M. Puel,Bernard-François Michel,Céline Besse,Charles Duyckaerts,Vincent Meininger,Dominique Campion,Bruno Dubois,Alexis Brice +26 more
TL;DR: This study increases the number of 9p-linked families now reported and shows that this locus may have a major effect on frontotemporal dementia (FTD) and motor neuron disease (MND).