Cécile Rouzier

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

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype

Cécile Rouzier, Sylvie Bannwarth, Annabelle Chaussenot et al. · Brain · 2011 · 238 citations · Full text

Life Sciences, Molecular Genetics, Neurology +17

Neurologic features and genotype‐phenotype correlation in Wolfram syndrome

Annabelle Chaussenot, Sylvie Bannwarth, Cécile Rouzier et al. · Annals of Neurology · 2010 · 152 citations · Full text

Life Sciences, Genetics, Neurology +17

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

Identification of novel mutations in <i>WFS1</i> and genotype–phenotype correlation in Wolfram syndrome

A. Caño, Cécile Rouzier, Sophie Monnot et al. · American Journal of Medical Genetics Part A · 2007 · 77 citations

Life Sciences, Genetics, Molecular Genetics +15