Caroline Espil‐Taris

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

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

Severe neonatal myasthenia due to maternal anti-MuSK antibodies

Anthony Béhin, M. Mayer, Bouchera Kassis-Makhoul et al. · Neuromuscular Disorders · 2008 · 56 citations

Maternal Immunization, Pediatrics, Maternal Health +3

Variable phenotype of del45-55 Becker patients correlated with nNOSµ mislocalization and RYR1 hypernitrosylation

Christel Gentil, France Leturcq, Rabah Ben Yaou et al. · Human Molecular Genetics · 2012 · 47 citations · Full text

Type I hyperprolinemia: genotype/phenotype correlations

Audrey Guilmatre, Solenn Legallic, Gary Steel et al. · Human Mutation · 2010 · 33 citations · Full text

Proline Dehydrogenase Gene, Proline Oxidase, Genetics +20