Claire‐Sophie Davoine
Centre National de la Recherche Scientifique(FR)Inserm(FR)Sorbonne Université(FR)Institut du Cerveau(FR)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases, Endoplasmic Reticulum Stress and Disease, Neurological diseases and metabolism, Parkinson's Disease Mechanisms and Treatments
Most-Cited Works
- → Hereditary Spastic Paraplegia SPG13 Is Associated with a Mutation in the Gene Encoding the Mitochondrial Chaperonin Hsp60(2002)368 cited
- → Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7(2019)60 cited
- → Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans(2003)50 cited
- → Quality Assessment of Whole Genome Mapping Data in the Refined Familial Spastic Paraplegia Interval on Chromosome 14q(1998)25 cited
- → Expanding the clinical spectrum of RAB3A : from cerebellar ataxia to spastic paraplegia(2025)2 cited
- → C003 The influence of CAG-CCG repeat sequence variants on the phenotype of HD patients with small expansions(2024)