Laurence Hubert

Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

Avraham Zeharia, Avraham Shaag, Riekelt H. Houtkooper et al. · The American Journal of Human Genetics · 2008 · 216 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4

Multiple OXPHOS Deficiency in the Liver, Kidney, Heart, and Skeletal Muscle of Patients With Methylmalonic Aciduria and Propionic Aciduria

Yves de Keyzer, Vassili Valayannopoulos, Jean‐François Benoist et al. · Pediatric Research · 2009 · 166 citations · Full text

Urology, Multiple Oxphos Deficiency, Methylmalonic Aciduria +8

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy

Diego Martinelli, Lorena Travaglini, Christian A. Drouin et al. · Brain · 2013 · 151 citations · Full text

Mednik Syndrome, Pathology, Zinc Acetate Therapy +18

Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice

Laurent Foiry, Li Dong, Cédric Savouret et al. · Human Genetics · 2006 · 142 citations

Knockout Mouse, Genome Instability, Lineage Plasticity +9

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