Sage Journals: Discover world-class research

Open access

Research article

First published 2025-7

Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study

S Colombo, BS Cowling, L Eyler [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2016

Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation

Matteo Garibaldi, Johann Böhm, Fabiana Fattori [...]

Journal of Neuromuscular Diseases

Free access

Brief report

First published 2018

Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei

Xavière Lornage, Pascal Sabouraud, Béatrice Lannes [...]

Journal of Neuromuscular Diseases

Free access

Review article

First published

Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years

U. Werlauff, H. Petri, N. Witting [...]

Journal of Neuromuscular Diseases

Free access

Case report

First published 2017

Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1

Carlyn Kouwenberg, Johann Bohm, Corrie Erasmus [...]

Journal of Neuromuscular Diseases

Free access

Brief report

First published 2011-1

Frequency of the Allelic Variant of the PTPLA Gene Responsible for Centronuclear Myopathy in Labrador Retriever Dogs as Assessed in Italy

Fabio Gentilini, Elisa Zambon, Gualtiero Gandini [...]

Journal of Veterinary Diagnostic Investigation

Open access

Research article

First published 2025-4

The synaptic availability of GluA1 is reduced in hippocampal neurons of a murine model of dynamin-2 linked autosomal dominant centronuclear myopathy

Carolina Flores-Muñoz, Marjorie Labraña-Allende, Michelle Mattar-Araos [...]

Science Progress

Open access

Review article

First published 2016-8-30

Increasing Role of Titin Mutations in Neuromuscular Disorders

Marco Savarese, Jaakko Sarparanta, Anna Vihola [...]

Journal of Neuromuscular Diseases

Search results