Associated Papers
A novel DNM2 variant associated with centronuclear myopathy: a case report.
Rimoldi M et al.
Frontiers in Genetics, 2025
Effect of Pathogenic Mutations on the Formation of High-Order Dynamin 2 Assemblies in Living Cells.
Hedde PN et al.
Biochemistry, 2024
[The dynamin-2-gene related centronuclear myopathy].
Bitoun M
Medecine Sciences : M/s, 2023
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
Erdmann H et al.
Brain : a Journal of Neurology, 2023
Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues.
Laiman J et al.
Current Opinion in Cell Biology, 2023
Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy.
Fujise K et al.
Human Mutation, 2022
Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.
Hohendahl A et al.
Journal of Structural Biology, 2016
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
Fattori F et al.
Journal of 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
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
Savarese M et al.
Acta Neuropathologica Communications, 2014
Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy.
Gibbs EM et al.
Journal of Molecular Medicine (berlin, Germany), 2013
A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy.
Kierdaszuk B 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
Phenotypic variability in a large Czech family with a dynamin 2-associated Charcot-Marie-Tooth neuropathy.
Haberlová J et al.
Journal of Neurogenetics, 2011
Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients.
Kenniston JA et al.
The Embo Journal, 2010
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
Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset.
Melberg A et al.
Neuromuscular Disorders : Nmd, 2010
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
Bitoun M et al.
Annals of Neurology, 2007
Mutant BIN1-Dynamin 2 complexes dysregulate membrane remodeling in the pathogenesis of centronuclear myopathy.
Fujise K et al.
The Journal of Biological Chemistry, 0