Cécilia Altuzarra

Corticosteroids as treatment of epileptic syndromes with continuous spike‐waves during slow‐wave sleep

Marga Buzatu, Christine Bulteau, Cécilia Altuzarra et al. · Epilepsia · 2009 · 166 citations · Full text

Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications

Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko et al. · Brain · 2021 · 138 citations · Full text

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

Caroline Michot, Laurence Hubert, Michèle Brivet et al. · Human Mutation · 2010 · 130 citations · Full text

Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study

Frédérique Audic, Marta Gómez García de la Banda, Delphine Bernoux et al. · Orphanet Journal of Rare Diseases · 2020 · 99 citations · Full text

Mutation in PNPT1 , which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency

Vanessa Vedrenne, Gowher Ali, Pascale de Lonlay et al. · The American Journal of Human Genetics · 2012 · 97 citations · Full text

Mitochondrial Biogenesis, Mitochondrial Function, Natural Sciences +9