Sage Journals: Discover world-class research

Retricted access

Other

First published 2007-11

A Newborn With Spinal Muscular Atrophy Type 0 Presenting With a Clinicopathological Picture Suggestive of Myotubular Myopathy

Amelie Nadeau, Guy D'Anjou, Guillaume Debray [...]

Journal of Child Neurology

Retricted access

Other

First published 2007-04

X-Linked Myotubular Myopathy: Report of a Case With Novel Mutation

Tibor Hortobágyi, Hajnalka Szabó, Krisztián S. Kovács [...]

Journal of Child Neurology

Open access

Review article

First published 2018

Centronuclear myopathies under attack: A plethora of therapeutic targets

Hichem Tasfaout, Belinda S. Cowling, Jocelyn Laporte

Journal of Neuromuscular Diseases

Open access

Research article

First published 2018

An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination

Danielle C. Robinson, Anna E. Mammel, Anne M. Logan [...]

ASN Neuro

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

Open access

Research article

First published 2022-01-04

Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report

Cristina Molera, Tinatin Sarishvili, Andrés Nascimento [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2021

Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience

Andrea Gangfuss, Dirk Schmitt, Andreas Roos [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2015-06

Validity of a Neurological Scoring System for Canine X-Linked Myotubular Myopathy

Jessica M. Snyder, Allison Meisner, David Mack [...]

Human Gene Therapy Clinical Development

Open access

Review article

First published 2019

The Dog Model in the Spotlight: Legacy of a Trustful Cooperation

Inès Barthélémy, Christophe Hitte, Laurent Tiret

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2017-06

CD47 and Nox1 Mediate Dynamic Fluid-Phase Macropinocytosis of Native LDL

Gábor Csányi, Douglas M. Feck, Pushpankur Ghoshal [...]

Antioxidants & Redox Signaling

Search results