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Articles (12)

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1-10 of 12 results for X-linked myotubular myopathy (XLMTM)

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

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

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

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

Select article: Use of the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance

Open access

Research article

First published 2021

Use of the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance

Tina Duong, Gale Harding, Sally Mannix [...]

Journal of Neuromuscular Diseases

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

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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

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

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

Select article: Estimation of the Quality-of-Life Impact of X-Linked Myotubular Myopathy

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

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

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

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

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

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

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

Select article: Signs and symptoms of carriers of non- DMD X-linked neuromuscular diseases: A scoping review

Open access

Review article

First published 2025-7

Signs and symptoms of carriers of non- DMD X-linked neuromuscular diseases: A scoping review

Job Simons, Amanda Dekker, Rosanne Govaarts [...]

Journal of Neuromuscular Diseases

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