Florence Renaldo

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Gali Heimer, Juha M. Kerätär, Lisa G. Riley et al. · The American Journal of Human Genetics · 2016 · 101 citations · Full text

Mitochondrial Myopathy, Neurodegenerative Diseases, Mendelian Disorder +10

Mutation in <i>POLR3K</i> causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation

Imen Dorboz, Hélène Dumay‐Odelot, K. Boussaid et al. · Neurology Genetics · 2018 · 86 citations · Full text

Mutations in ADAR1, IFIH1, and RNASEH2B Presenting As Spastic Paraplegia

Maha S. Zaki, Mohamed Abdel‐Hamid, Ghada M. H. Abdel‐Salam et al. · Neuropediatrics · 2014 · 84 citations

Surgical Outcome in Tuberous Sclerosis Complex: A Multicenter Survey

Deepak Madhavan, S C H A F F E R Schaffer, Alexei E. Yankovsky et al. · Epilepsia · 2007 · 77 citations

CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients

Marie Le Roux, Magalie Barth, Sophie Guéden et al. · European Journal of Paediatric Neurology · 2021 · 63 citations · Full text

Electroclinical Findings, Neurophysiology, Treatment Response +4