Associated Papers
A novel DNM2 variant associated with centronuclear myopathy: a case report.
Rimoldi M et al.
Frontiers in Genetics, 2025
[The dynamin-2-gene related centronuclear myopathy].
Bitoun M
Medecine Sciences : M/s, 2023
Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues.
Laiman J et al.
Current Opinion in Cell Biology, 2023
Phenotype variability and histopathological findings in patients with a novel DNM2 mutation.
Chen S et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2018
Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.
Hohendahl A et al.
Journal of Structural Biology, 2016
Dynamin-2 in nervous system disorders.
González-Jamett AM et al.
Journal of Neurochemistry, 2014
Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy.
Gibbs EM et al.
Journal of Molecular Medicine (berlin, Germany), 2013
Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.
Catteruccia M et al.
Neuromuscular Disorders : Nmd, 2013
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Böhm J et al.
Human Mutation, 2012
Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination.
Sidiropoulos PN et al.
Brain : a Journal of Neurology, 2012
Dynamin 2 and human diseases.
Durieux AC et al.
Journal of Molecular Medicine (berlin, Germany), 2010
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
Susman RD et al.
Neuromuscular Disorders : Nmd, 2010
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
Claeys KG et al.
Brain : a Journal of Neurology, 2009
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.
Echaniz-Laguna A et al.
Neuromuscular Disorders : Nmd, 2007
[A 34-year-old woman with delayed motor milestones, high arched palate, and proximal muscle weakness].
Yamamoto T et al.
No to Shinkei = Brain and Nerve, 1996
Adult centronuclear myopathies: A hospital-based study.
Echaniz-Laguna A et al.
Revue Neurologique, 0