Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
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
Effect of Pathogenic Mutations on the Formation of High-Order Dynamin 2 Assemblies in Living Cells.
Hedde PN et al.
Biochemistry, 2024
Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.
Harikrishna GV et al.
Journal of Neuromuscular Diseases, 2024
[The dynamin-2-gene related centronuclear myopathy].
Bitoun M
Medecine Sciences : M/s, 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
Development of versatile allele-specific siRNAs able to silence all the dominant dynamin 2 mutations.
Dudhal S et al.
Molecular Therapy. Nucleic Acids, 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
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
A case of de novo dynamin 2 (DNM2)-related centronuclear myopathy with electrical but not clinical myotonia.
Huang X et al.
Chinese Medical Journal, 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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
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
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
Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark.
Witting N et al.
Neurology. Genetics, 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
Zebrafish as a Model to Investigate Dynamin 2-Related Diseases.
Bragato C et al.
Scientific 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
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
Fattori F et al.
Journal of Neurology, 2015
Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years.
Werlauff U et al.
Journal of Neuromuscular Diseases, 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
Dynamin-2 in nervous system disorders.
González-Jamett AM et al.
Journal of Neurochemistry, 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
Clinical utility gene card for: Centronuclear and myotubular myopathies.
Biancalana V et al.
European Journal of Human Genetics : Ejhg, 2012
Next generation sequencing for molecular diagnosis of neuromuscular diseases.
Vasli N et al.
Acta Neuropathologica, 2012
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
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
Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.
Koutsopoulos OS et al.
Plos One, 2011
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.
Durieux AC et al.
Human Molecular Genetics, 2010
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
Susman RD et al.
Neuromuscular Disorders : Nmd, 2010
Adult centronuclear myopathies: A hospital-based study.
Echaniz-Laguna A et al.
Revue Neurologique, 0