Sage Journals: Discover world-class research

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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

Retricted access

Case report

First published 2012-1

Congenital Myotubular Myopathy With a Novel MTM1 Gene Mutation in a Premature Infant Presenting With Ventilator Dependency and Intrahepatic Cholestasis

Inn-Chi Lee, Pen-Hua Su, Jia-Yuh Chen [...]

Journal of Child Neurology

Open access

Research article

First published 2021

Estimation of the Quality-of-Life Impact of X-Linked Myotubular Myopathy

Andrew Lloyd, Daniel Aggio, Ted L. Slocomb [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2015-9

Syngeneic Myoblast Transplantation Improves Muscle Function in a Murine Model of X-Linked Myotubular Myopathy

Hyun Ju Lim, Sunyoung Joo, Seh-Hoon Oh [...]

Cell Transplantation

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

Open access

Research article

First published 2022

INCEPTUS Natural History,Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy

James J. Dowling, Wolfgang Müller-Felber, Barbara K. Smith [...]

Journal of Neuromuscular Diseases

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

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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

Open access

Review article

First published 2025

Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study

Perry B. Shieh, Wendy Hughes, Marie Wood [...]

Therapeutic Advances in Rare Disease

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