C. Bouchet-Séraphin

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

Isabelle Gerin, Benoît Ury, Isabelle Breloy et al. · Nature Communications · 2016 · 143 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +11

Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

Sandrine Vuillaumier‐Barrot, C. Bouchet-Séraphin, M. Chelbi et al. · The American Journal of Human Genetics · 2012 · 140 citations · Full text

Life Sciences, Genetics, Neuroscience +10

Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype

Sandrine Vuillaumier‐Barrot, Susana Quijano-Roy, C. Bouchet-Séraphin et al. · Neuromuscular Disorders · 2009 · 41 citations

Life Sciences, Genetics, Molecular Genetics +4

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

Martin Krahn, Valérie Biancalana, Mathieu Cérino et al. · European Journal of Human Genetics · 2018 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein

C. Bouchet-Séraphin, Sandrine Vuillaumier‐Barrot, Nathalie Séta · Journal of Neuromuscular Diseases · 2015 · 38 citations · Full text

Life Sciences, Genetics, Molecular Biology +16