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
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
Impaired dynamin 2 function leads to increased AP-1 transcriptional activity through the JNK/c-Jun pathway.
Szymanska E et al.
Cellular Signalling, 2016
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
Dynamin-2 in nervous system disorders.
González-Jamett AM et al.
Journal of Neurochemistry, 2014
Dynamin-2 function and dysfunction along the secretory pathway.
González-Jamett AM et al.
Frontiers in Endocrinology, 2013
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 GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients.
Kenniston JA et al.
The Embo Journal, 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 associated with human diseases impair clathrin-mediated receptor endocytosis.
Bitoun M et al.
Human Mutation, 2009
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
Bitoun M et al.
Annals of Neurology, 2007