Claire‐Sophie Davoine

Hereditary Spastic Paraplegia SPG13 Is Associated with a Mutation in the Gene Encoding the Mitochondrial Chaperonin Hsp60

Jens Jacob Hansen, Alexandra Dürr, Isabelle Cournu‐Rebeix et al. · The American Journal of Human Genetics · 2002 · 368 citations · Full text

Biology, Mitochondrial Function, Genetic Disorder +6

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with <i>SPG7</i>

Giulia Coarelli, Rebecca Schüle, Bart P.C. van de Warrenburg et al. · Neurology · 2019 · 59 citations · Full text

Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans

Magali Bouhours, Damien Sternberg, Claire‐Sophie Davoine et al. · The Journal of Physiology · 2003 · 50 citations · Full text

Muscle Function, Genetics, Molecular Biology +18

Quality Assessment of Whole Genome Mapping Data in the Refined Familial Spastic Paraplegia Interval on Chromosome 14q

Caroline Paternotte, Doda Rudnicki, Cécile Fizames et al. · Genome Research · 1998 · 25 citations · Full text