Associated Papers
Exon skipping peptide-conjugated morpholinos downregulate dynamin 2 to rescue centronuclear myopathy.
Moschovaki-Filippidou F et al.
Brain : a Journal of Neurology, 2025
OXPHOS complex deficiency in congenital myopathy: A systematic review.
du Preez MJ et al.
European Journal of Clinical Investigation, 2025
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
Dynamin-2 mutations linked to neonatal-onset centronuclear myopathy impair exocytosis and endocytosis in adrenal chromaffin cells.
Bayonés L et al.
Journal of Neurochemistry, 2024
[The dynamin-2-gene related centronuclear myopathy].
Bitoun M
Medecine Sciences : M/s, 2023
DNM2 levels normalization improves muscle phenotypes of a novel mouse model for moderate centronuclear myopathy.
de Carvalho Neves J et al.
Molecular Therapy. Nucleic Acids, 2023
A centronuclear myopathy-causing mutation in dynamin-2 disrupts neuronal morphology and excitatory synaptic transmission in a murine model of the disease.
Arriagada-Diaz J et al.
Neuropathology and Applied Neurobiology, 2023
Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues.
Laiman J et al.
Current Opinion in Cell Biology, 2023
Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy.
Hayes LH et al.
Neurology. Genetics, 2022
Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy.
Gómez-Oca R et al.
Nature Communications, 2022
Gain-of-Function Dynamin-2 Mutations Linked to Centronuclear Myopathy Impair Ca2+-Induced Exocytosis in Human Myoblasts.
Bayonés L et al.
International Journal of Molecular Sciences, 2022
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
Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy.
Trochet D et al.
Molecular Therapy. Nucleic Acids, 2022
Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy.
Fujise K et al.
Human Mutation, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.
Reumers SFI et al.
Clinical Genetics, 2021
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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
Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells.
González-Jamett AM et al.
Scientific Reports, 2017
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.
Kitamura Y et al.
Journal of Human Genetics, 2016
Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.
Hohendahl A et al.
Journal of Structural Biology, 2016
Clinical, pathological and genetic characteristics of autosomal dominant inherited dynamin 2 centronuclear myopathy.
Liu X et al.
Molecular Medicine Reports, 2016
Phospholamban overexpression in mice causes a centronuclear myopathy-like phenotype.
Fajardo VA et al.
Disease Models & Mechanisms, 2015
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
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
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
Clinical utility gene card for: Centronuclear and myotubular myopathies.
Biancalana V et al.
European Journal of Human Genetics : Ejhg, 2012
Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2.
Mori-Yoshimura M et al.
Clinical Neurology and Neurosurgery, 2012
Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy.
Gurgel-Giannetti J et al.
Neuromuscular Disorders : Nmd, 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
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
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.
Durieux AC et al.
Human Molecular Genetics, 2010
Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation.
Liewluck T et al.
Neuromuscular Disorders : Nmd, 2010
Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers.
Wang L et al.
The Journal of Biological Chemistry, 2010
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
Susman RD et al.
Neuromuscular Disorders : Nmd, 2010
164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16-18th January 2009, Naarden, The Netherlands.
Jungbluth H et al.
Neuromuscular Disorders : Nmd, 2009
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.
Medecine Sciences : M/s, 2006
Mutations in dynamin 2 cause dominant centronuclear myopathy.
Bitoun M et al.
Nature Genetics, 2005
Histopathologic changes in the extraocular muscle in centronuclear myopathy with a Dynamin 2 mutation.
Hanna N et al.
Ophthalmic Genetics, 0
The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy.
Gal A et al.
Clinical Neuropathology, 0