Associated Papers
A novel DNM2 variant associated with centronuclear myopathy: a case report.
Rimoldi M et al.
Frontiers in Genetics, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 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
Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.
Hohendahl A et al.
Journal of Structural Biology, 2016
Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.
Sambuughin N et al.
Bmc Neurology, 2015
A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres.
Casar-Borota O et al.
Neuromuscular Disorders : Nmd, 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
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
Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation.
Jungbluth H et al.
Neuromuscular Disorders : Nmd, 2010