Sage Journals: Discover world-class research

Free access

Review article

First published 2010-03

A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/ hereditary inclusion body myopathy,a sugar-deficient myopathy: a review

May Christine V. Malicdan, Satoru Noguchi, Ichizo Nishino

Therapeutic Advances in Neurological Disorders

Open access

Review article

First published

Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy

Mathieu Cerino, Svetlana Gorokhova, Anthony Béhin [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2016

Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2,Randomized,Controlled Study

Zohar Argov, Yoseph Caraco, Heather Lau [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published

GNE Myopathy: Two Clusters with History and Several Founder Mutations

Zohar Argov, Stella Mitrani Rosenbaum

Journal of Neuromuscular Diseases

Open access

Research article

First published 2025-3

Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis

Naoki Suzuki, Madoka Mori-Yoshimura, Ichizo Nishino [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2016

GNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology

G.K. Papadimas, A. Evilä, C. Papadopoulos [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2008-03

Validation of GNE :p.M712T Identification by Melting Curve Analysis

Yadira Valles-Ayoub, Chai Saechao, Arman Haghighatgoo [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2010-04

Novel GNE Mutations in Hereditary Inclusion Body Myopathy Patients of Non-Middle Eastern Descent

Chai Saechao, Yadira Valles-Ayoub, Saghi Esfandiarifard [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2021-03-02

Results from a 3-year Non-interventional,Observational Disease Monitoring Program in Adults with GNE Myopathy

Hanns Lochmüller, Anthony Behin, Ivailo Tournev [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2024-11

Mutational and clinical spectrum of myofibrillar myopathy in one center from China

Qi Wang, Peng Sun, Meng Yu [...]

Journal of Neuromuscular Diseases

Search results