Associated Papers
A novel DNM2 variant associated with centronuclear myopathy: a case report.
Rimoldi M et al.
Frontiers in Genetics, 2025
40259930 (PubMed )
Supplement: DataSheet1.pdf
Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumoronly versus paired tumor-normal sequencing.
Newman H et al.
Haematologica, 2024
38385299 (PubMed )
Supplement: 2023_284855_NEWMAN_SUPPL.pdf
Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell Acute Lymphoblastic Leukemia.
Sobh M et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2023
Diagnostic yield of advanced genetic testing in patients with hereditary neuropathies: A retrospective single-site study.
Felice KJ et al.
Muscle & Nerve, 2021
A Patient with neonatal cholestasis.
Claeys KG et al.
Journal of Mother and Child, 2021
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
Harris E et al.
Orphanet Journal of Rare Diseases, 2017
Loss-of-function mutations of Dynamin 2 promote T-ALL by enhancing IL-7 signalling.
Tremblay CS et al.
Leukemia, 2016
Dynamin-2 function and dysfunction along the secretory pathway.
González-Jamett AM et al.
Frontiers in Endocrinology, 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
[Non-fortuitous dynamin II mutation-related association: neutropenia and Charcot-Marie-Tooth disease].
Saint-Lézer A et al.
Revue Neurologique, 2012
Phenotypic variability in a large Czech family with a dynamin 2-associated Charcot-Marie-Tooth neuropathy.
Haberlová J et al.
Journal of Neurogenetics, 2011
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
Susman RD et al.
Neuromuscular Disorders : Nmd, 2010
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
Claeys KG et al.
Brain : a Journal of Neurology, 2009
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.
Züchner S et al.
Nature Genetics, 2005
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