Claude Cancès
Laboratoire National de Référence(MA)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Genetics and Neurodevelopmental Disorders, Cellular transport and secretion, Epilepsy research and treatment, Nuclear Structure and Function
Most-Cited Works
- → Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly(2013)491 cited
- → Key clinical features to identify girls with CDKL5 mutations(2008)286 cited
- → Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset(2007)148 cited
- → LIS1-Related Isolated Lissencephaly(2009)98 cited
- → Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation(2018)86 cited
- → Reading abilities and cognitive functions of children with epilepsy: Influence of epileptic syndrome(2005)71 cited
- → From splitting GLUT1 deficiency syndromes to overlapping phenotypes(2015)69 cited
- → Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases(2015)61 cited
- → Distal 10q monosomy: New evidence for a neurobehavioral condition?(2013)56 cited
- → Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature(2017)41 cited