C Bouchet

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

Louise Devisme, C Bouchet, Marie Gonzalès et al. · Brain · 2012 · 192 citations

Medicine, Neurology, Neuroscience +17

New <i>POMT2</i> mutations causing congenital muscular dystrophy

Akiko Yanagisawa, C Bouchet, Peter Van den Bergh et al. · Neurology · 2007 · 66 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Molecular heterogeneity in fetal forms of type II lissencephaly

C Bouchet, M. Gonzalés, Sandrine Vuillaumier‐Barrot et al. · Human Mutation · 2007 · 64 citations

Life Sciences, Genetics, Molecular Genetics +17

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

Nigel F. Clarke, Svetlana Maugenre, Aurélie Vandebrouck et al. · European Journal of Human Genetics · 2011 · 55 citations

Life Sciences, Genetics, Molecular Genetics +8

Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development

C Bouchet, Julie Steffann, Johanna Corcos et al. · Journal of Medical Genetics · 2006 · 53 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17