Agnès Delahodde

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

Julie Mollet, Agnès Delahodde, Valérie Serre et al. · The American Journal of Human Genetics · 2008 · 290 citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Mendelian Disorder +11

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

Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Yohan Sorèze, Audrey Boutron, Florence Habarou et al. · Orphanet Journal of Rare Diseases · 2013 · 100 citations · Full text

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

Metodi D. Metodiev, S. Gerber, Laurence Hubert et al. · Journal of Medical Genetics · 2014 · 89 citations

Study of <i>LPIN1</i>, <i>LPIN2</i> and <i>LPIN3</i> in rhabdomyolysis and exercise‐induced myalgia

Caroline Michot, Laurence Hubert, Norma B. Romero et al. · Journal of Inherited Metabolic Disease · 2012 · 89 citations · Full text