Samira Ait-El-Mkadem

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

Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency

Konstantina Fragaki, Samira Ait-El-Mkadem, Annabelle Chaussenot et al. · European Journal of Human Genetics · 2012 · 125 citations · Full text

Mitochondrial Function, Refractory Epilepsy, Genetic Disorder +6

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

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions

Cécile Rouzier, David Moore, Cécile Delorme et al. · Human Molecular Genetics · 2017 · 74 citations · Full text

Genetics, Pathology, Molecular Genetics +17