Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

Louise Devisme, C Bouchet, Marie Gonzalès, +34

Brain

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

Akiko Yanagisawa, C Bouchet, Peter Van den Bergh, +8

Neurology

Molecular heterogeneity in fetal forms of type II lissencephaly

C Bouchet, M. Gonzalés, Sandrine Vuillaumier‐Barrot, +31

Human Mutation

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, +12

European Journal of Human Genetics

Large GeneRare DiseasesMendelian DisorderGenetic DisorderGenetics +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, +12

Journal of Medical Genetics

A novel mutation (G114V) in the prion protein gene in a family with inherited prion disease

Matías Rodriguez, Katell Peoc’h, C Bouchet, +8

Neurology

Protein O-mannosyltransferase activities in lymphoblasts from patients with α-dystroglycanopathies

Hiroshi Manya, C Bouchet, Akiko Yanagisawa, +15

Neuromuscular Disorders

GlycobiologyProtein O-mannosyltransferase ActivitiesPathologyCellular BiochemistryMedicine +5

POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation

Akiko Yanagisawa, C Bouchet, Susana Quijano‐Roy, +10

European Journal of Medical Genetics

Rare DiseasesDevelopmental BiologyMendelian DisorderPomt2 Intragenic DeletionsGenetic Disorder +7

Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families

C Bouchet, Sandrine Vuillaumier‐Barrot, M. Gonzalés, +9

Molecular Genetics and Metabolism

Mendelian DisorderGenetic DisorderGeneticsPathologyAlu Insertion +6