Emmanuelle C. Genin

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

Sylvie Bannwarth, Samira Ait-El-Mkadem, Annabelle Chaussenot et al. · Brain · 2014 · 497 citations · Full text

Life Sciences, Genetics, Neurology +17

CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis

Emmanuelle C. Genin, Morgane Plutino, Sylvie Bannwarth et al. · EMBO Molecular Medicine · 2015 · 206 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +17

Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse

Emmanuelle C. Genin, Blandine Madji Hounoum, Sylvie Bannwarth et al. · Acta Neuropathologica · 2019 · 117 citations

Life Sciences, Cell Biology, Neuroscience +14

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients

Annabelle Chaussenot, Isabelle Le Ber, Samira Ait-El-Mkadem et al. · Neurobiology of Aging · 2014 · 111 citations

Life Sciences, Genetics, Neurology +14

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Samira Ait-El-Mkadem, Manal Dayem-Quere, Mirjana Gušić et al. · The American Journal of Human Genetics · 2016 · 93 citations · Full text

Life Sciences, Biochemistry, Molecular Genetics +17