Marie‐Claire Malinge

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

Mireille Claustres, Caroline Guittard, Dominique Bozon et al. · Human Mutation · 2000 · 250 citations

Mitochondrial coupling defect in Charcot–Marie–Tooth type 2A disease

Dominique Loiseau, Arnaud Chevrollier, Christophe Verny et al. · Annals of Neurology · 2007 · 155 citations

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Annie Laquerrière, Jérôme Maluenda, Adrien Camus et al. · Human Molecular Genetics · 2013 · 109 citations · Full text

Pns Myelination, Developmental Biology, Autoimmune Disease +14

<i>CFTR</i>-France, a national relational patient database for sharing genetic and phenotypic data associated with rare<i>CFTR</i>variants

Mireille Claustres, C. Thèze, Marie des Georges et al. · Human Mutation · 2017 · 88 citations

Genetics, Databases, Genetic Epidemiology +22

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

Julien Cassereau, Arnaud Chevrollier, Naïg Guéguen et al. · Neurogenetics · 2008 · 84 citations

Mendelian Disorder, Mitochondrial Function, Genetic Disorder +8