Concepedia

C Bouchet

CB

9

Publications

558

Citations

9

H-Index

2005

Active since

Affiliations

Inserm(Current)

Assistance Publique – Hôpitaux de Paris

Sorbonne Université

Hôpital Bichat-Claude-Bernard

Université Claude Bernard Lyon 1

C Bouchet is an author at Inserm specializing in pathology, medicine, and clinical genetics.

Top concepts

Publications per year

2005–2012

9

Publications

9

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

Louise Devisme, C Bouchet, Marie Gonzalès et al. · Brain · 2012 · 187 citations

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

Molecular heterogeneity in fetal forms of type II lissencephaly

C Bouchet, M. Gonzalés, Sandrine Vuillaumier‐Barrot et al. · Human Mutation · 2007 · 63 citations

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 · Full text

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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

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