Catherine Vanhulle

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson et al. · Nature Genetics · 2014 · 582 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

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management

Emmanuelle Lagrue, Céline Dogan, Marie De Antonio et al. · Neurology · 2019 · 72 citations

From splitting GLUT1 deficiency syndromes to overlapping phenotypes

Marie Hully, Sandrine Vuillaumier‐Barrot, Christiane Le Bizec et al. · European Journal of Medical Genetics · 2015 · 69 citations

Autoimmune Disease, Genetic Disorder, Genetics +4

Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease

Anthony Béhin, Cécile Acquaviva, Sarah Souvannanorath et al. · Revue Neurologique · 2016 · 59 citations

Metabolic Syndrome, Metabolic Disorder, Metabolic Disease +5