Associated Papers
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study.
Colombo S et al.
Journal of Neuromuscular Diseases, 2025
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
Tamoxifen improves muscle structure and function of Bin1- and Dnm2-related centronuclear myopathies.
Gineste C et al.
Brain : a Journal of Neurology, 2023
The dynamin Vps1 mediates Atg9 transport to the sites of autophagosome formation.
Arlt H et al.
The Journal of Biological Chemistry, 2023
Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues.
Laiman J et al.
Current Opinion in Cell Biology, 2023
GSK3α phosphorylates dynamin-2 to promote GLUT4 endocytosis in muscle cells.
Laiman J et al.
The Journal of Cell Biology, 2023
Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants.
Fujise K 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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy.
Fujise K et al.
Human Mutation, 2022
Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.
Gómez-Oca R et al.
International Journal of Molecular Sciences, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Molecular analysis and clinical diversity of distal hereditary motor neuropathy.
Liu X et al.
European Journal of Neurology, 2020
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L et al.
Genes, 2020
Different in vivo impacts of dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or centronuclear myopathy.
Massana Muñoz X et al.
Human Molecular Genetics, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes.
Rabai A et al.
Molecular Therapy. Nucleic Acids, 2019
Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle.
Franck A et al.
Molecular Biology of the Cell, 2019
New variant of necklace fibres display peculiar lysosomal structures and mitophagy.
Rinnenthal JL et al.
Neuromuscular Disorders : Nmd, 2018
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
Abnormal spontaneous activity in primary myopathic disorders.
Nojszewska M et al.
Muscle & Nerve, 2017
Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells.
González-Jamett AM et al.
Scientific Reports, 2017
Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.
Hohendahl A et al.
Journal of Structural Biology, 2016
DNM2 mutations in Chinese Han patients with centronuclear myopathy.
Lin P et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2016
Clinical, pathological and genetic characteristics of autosomal dominant inherited dynamin 2 centronuclear myopathy.
Liu X et al.
Molecular Medicine Reports, 2016
Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.
Sambuughin N et al.
Bmc Neurology, 2015
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Antoniadi T et al.
Bmc Medical Genetics, 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
Myotonia in DNM2-related centronuclear myopathy.
Dabby R et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2014
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
Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy.
Park YE et al.
Journal of Clinical Neurology (seoul, Korea), 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
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
Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations.
Hanisch F et al.
Journal of Neurology, 2011
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 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
Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.
Bitoun M et al.
Human Mutation, 2009
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