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Retricted access

Case report

First published 2009-1

An Autophagic Vacuolar Myopathy-Like Disorder Presenting as Nonimmune Hydrops in a Female Fetus

Charis Kepron, Andrea Blumenthal, David Chitayat [...]

Pediatric and Developmental Pathology

Open access

Brief report

First published 2024-07-02

Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis,in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene

Michela Bisciglia, Hazim Kadhim, Sophie Lecomte [...]

Journal of Neuromuscular Diseases

Open access

Review article

First published 2025-7

Recent advances in the clinical spectrum and pathomechanisms associated with X-linked myopathy with excessive autophagy and other VMA21 -related disorders

Ilaria Cocchiararo, Perrine Castets

Journal of Neuromuscular Diseases

Open access

Case report

First published 2024

HNRNPA1 de novo Variant Associated with Early Childhood Onset,Rapidly Progressive Generalized Myopathy

Andreas Roos, Martin Häusler, Laxmikanth Kollipara [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2025-3

Glycogenosis type XI,a rare association between muscle and skin manifestations - the contribution of proteomics for the understanding of the underlying myopathology

Andreas Hentschel, Emmanuelle Lacene, Guy Brochier [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2015-8

X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene

Colleen D’Arcy, Voula Kanellakis, Robin Forbes [...]

Journal of Child Neurology

Open access

Research article

First published 2016

Sil1 -Mutant Mice Elucidate Chaperone Function in Neurological Disorders

Stephan Buchkremer, José Andrés González Coraspe, Joachim Weis [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2019-1

Multifocal Necrotizing Myopathy in Northern Elephant Seal ( Mirounga angustirostris ) Pups,San Miguel Island,California

Terry R. Spraker, Tetiana A. Kuzmina, Eugene T. Lyons [...]

Veterinary Pathology

Retricted access

Research article

First published 1998-03

HIV Rounds at Cornell: Selected Neurologic Complications of HIV Disease

David Simpson

AIDS Patient Care and STDs

Free access

Rapid communication

First published 2001-1

Incidence of Polysaccharide Storage Myopathy in Draft Horse-Related Breeds: A Necropsy Study of 37 Horses and a Mule

Beth A. Valentine, Perry L. Habecker, Jon S. Patterson [...]

Journal of Veterinary Diagnostic Investigation

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