Konstantina Fragaki

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

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

Cécile Rouzier, Sylvie Bannwarth, Annabelle Chaussenot et al. · Brain · 2011 · 234 citations · Full text

Mitochondrial Myopathy, Genome Instability, Mfn2 Gene +14

Accumulation of amyloid precursor protein C-terminal fragments triggers mitochondrial structure, function, and mitophagy defects in Alzheimer’s disease models and human brains

Loan Vaillant-Beuchot, Arnaud Mary, Raphaëlle Pardossi‐Piquard et al. · Acta Neuropathologica · 2020 · 234 citations · Full text

<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

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

Sylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre et al. · Journal of Medical Genetics · 2013 · 189 citations · Full text