Isabelle Le Ber
Centre National de la Recherche Scientifique(FR)Inserm(FR)Sorbonne Université(FR)Assistance Publique – Hôpitaux de Paris(FR)Pitié-Salpêtrière Hospital(FR)Institut de Psychiatrie et Neurosciences de Paris(FR)Institut du Cerveau(FR)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, DNA Repair Mechanisms, Parkinson's Disease Mechanisms and Treatments, Amyotrophic Lateral Sclerosis Research
Most-Cited Works
- → Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2(2004)518 cited
- → Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration(2007)250 cited
- → Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients(2009)243 cited
- → Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies(2003)237 cited
- → Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients(2004)210 cited
- → Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?(2007)164 cited