Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort-Reference-Cited by-同舟云学术

Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort

Published:2013-03 Issue:3 Volume:23 Page:229-238
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Catteruccia Michela,Fattori Fabiana,Codemo Valentina,Ruggiero Lucia,Maggi Lorenzo,Tasca Giorgio,Fiorillo Chiara,Pane Marika,Berardinelli Angela,Verardo Margherita,Bragato Cinzia,Mora Marina,Morandi Lucia,Bruno Claudio,Santoro Lucio,Pegoraro Elena,Mercuri Eugenio,Bertini Enrico,D’Amico Adele

Funder

Telethon – Italy

Ministry of Health Finalizzata

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference35 articles.

1. Centronuclear myopathies: a widening concept;Romero;Neuromuscul Disord,2010

2. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast;Laporte;Nat Genet,1996

3. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy;Nicot;Nat Genet,2007

4. Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset;Bitoun;Ann Neurol,2007

5. Mutations in dynamin 2 cause dominant centronuclear myopathy;Bitoun;Nat Genet,2005

Cited by 53 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India;Journal of Neuromuscular Diseases;2024-09-03

2. Gene Therapy for Genetic Muscle Diseases;Korean Journal of Neuromuscular Disorders;2023-12-31

3. Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues;Current Opinion in Cell Biology;2023-04

4. The sulfonadyns: a class of aryl sulfonamides inhibiting dynamin I GTPase and clathrin mediated endocytosis are anti-seizure in animal models;RSC Medicinal Chemistry;2023

5. Phenotypic Spectrum ofDNM2-Related Centronuclear Myopathy;Neurology Genetics;2022-10-25