Nicolas Dondaine

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene et al. · Human Mutation · 2012 · 137 citations · Full text

Medicine, Genetics, Neurology +17

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

Vanessa Schartner, Norma B. Romero, Sandra Donkervoort et al. · Acta Neuropathologica · 2016 · 136 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy

Valérie Tosch, Holger M. Rohde, Hélène Tronchère et al. · Human Molecular Genetics · 2006 · 133 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

Johann Böhm, Valérie Biancalana, Edoardo Malfatti et al. · Brain · 2014 · 103 citations

Medicine, Genetics, Molecular Genetics +16

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

Valérie Biancalana, Sophie Scheidecker, Marguerite Miguet et al. · Acta Neuropathologica · 2017 · 62 citations

Life Sciences, Genetics, Molecular Genetics +6