Bertrand Fontaine

Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility

Nikolaos A. Patsopoulos, Sergio E. Baranzini, Adam Santaniello et al. · Science · 2019 · 1.3K citations · Full text

Immunology, Extended Mhc, Innate Immunity +16

Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease

Giorgio Casari, Maurizio De Fusco, Sonia Ciarmatori et al. · Cell · 1998 · 824 citations · Full text

Mitochondrial Function, Oxphos Impairment, Genetics +10

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Erin L. Heinzen, Kathryn J. Swoboda, Yuki Hitomi et al. · Nature Genetics · 2012 · 417 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +8

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

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

Giovanni Stévanin, Filippo M. Santorelli, Hamid Azzedine et al. · Nature Genetics · 2007 · 331 citations

Biology, Neuroanatomy, Genetics +8