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 · 490 citations · Full text

Motor Neuron Disease, Genetics, Mitochondrial Myopathy +16

<i> <scp>CHCHD</scp> 10 </i> 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 · 199 citations · Full text

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 · 114 citations

Mitochondrial Myopathy, Mitochondrial Defect, Mitochondrial Function +10

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 · 110 citations

Amyotrophic Lateral Sclerosis, Dementia, Genetics +8

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 · 89 citations · Full text