Véronique Humbertclaude

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

Sylvie Tuffery‐Giraud, Christophe Béroud, France Leturcq et al. · Human Mutation · 2009 · 365 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy

Christophe Béroud, Sylvie Tuffery‐Giraud, Masafumi Matsuo et al. · Human Mutation · 2006 · 197 citations

Life Sciences, Genetics, Molecular Genetics +13

Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials

Véronique Humbertclaude, Dalil Hamroun, Kamel Bezzou et al. · European Journal of Paediatric Neurology · 2011 · 144 citations

Life Sciences, Neurology, Physiology +9

Linkage of Benign Familial Infantile Convulsions to Chromosome 16p12-q12 Suggests Allelism to the Infantile Convulsions and Choreoathetosis Syndrome

Roberto Caraballo, Sylvana Pavek, Arnaud Lemainque et al. · The American Journal of Human Genetics · 2001 · 130 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing<i>SPP1</i>and<i>LTBP4</i>variants

J.C. van den Bergen, Monika Hiller, Stefan Böhringer et al. · Journal of Neurology Neurosurgery & Psychiatry · 2014 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17