Associated Papers
A novel DNM2 variant associated with centronuclear myopathy: a case report.
Rimoldi M et al.
Frontiers in Genetics, 2025
"Gearing" up for dynamin-catalyzed membrane fission.
Khurana H et al.
Current Opinion in Cell Biology, 2023
Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues.
Laiman J et al.
Current Opinion in Cell Biology, 2023
Correlative SICM-FCM reveals changes in morphology and kinetics of endocytic pits induced by disease-associated mutations in dynamin.
Ali T et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy.
Trochet D et al.
Embo Molecular Medicine, 2018
Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.
Hohendahl A et al.
Journal of Structural Biology, 2016
Identification and function of conformational dynamics in the multidomain GTPase dynamin.
Srinivasan S et al.
The Embo Journal, 2016
Dynamin-2 function and dysfunction along the secretory pathway.
González-Jamett AM et al.
Frontiers in Endocrinology, 2013
Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2.
Mori-Yoshimura M et al.
Clinical Neurology and Neurosurgery, 2012
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Böhm J et al.
Human Mutation, 2012
Defective membrane remodeling in neuromuscular diseases: insights from animal models.
Cowling BS et al.
Plos Genetics, 2012
Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.
Koutsopoulos OS et al.
Plos One, 2011
Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients.
Kenniston JA et al.
The Embo Journal, 2010
Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.
Fischer D et al.
Brain : a Journal of Neurology, 2006
Mutations in dynamin 2 cause dominant centronuclear myopathy.
Bitoun M et al.
Nature Genetics, 2005