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
Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients.
Wang Q et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Gain-of-Function Properties of a Dynamin 2 Mutant Implicated in Charcot-Marie-Tooth Disease.
Tassin TC et al.
Frontiers in Cellular Neuroscience, 2021
Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease.
Zhao M et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2018
Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.
Hohendahl A et al.
Journal of Structural Biology, 2016
Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.
Sambuughin N et al.
Bmc Neurology, 2015
Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China.
Chen T et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015
A mutation associated with centronuclear myopathy enhances the size and stability of dynamin 2 complexes in cells.
James NG et al.
Biochimica Et Biophysica Acta, 2014
Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy.
Gibbs EM et al.
Journal of Molecular Medicine (berlin, Germany), 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