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Research article

First published 2018-2-21

Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent

Sudha Bhattacharya, Satish V. Khadilkar, Atchayaram Nalini [...]

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

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 2021-07-30

Thigh and Leg Muscle MRI Findings in GNE Myopathy

Farzad Fatehi, Soroor Advani, Ali Asghar Okhovat [...]

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 2022-01-04

Pre Clinical Assessment of AAVrh74.MCK.GNE Viral Vector Therapeutic Potential: Robust Activity Despite Lack of Consistent Animal Model for GNE Myopathy

Stella Mitrani-Rosenbaum, Lena Yakovlev, Michal Becker Cohen [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2023-07-04

Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan

Naoki Suzuki, Madoka Mori-Yoshimura, Masahisa Katsuno [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2009

Safety and in vivo Expression of a GNE-Transgene: A Novel Treatment Approach for Hereditary Inclusion Body Myopathy-2

Anagha P. Phadke, Chris Jay, Salina J. Chen [...]

Gene Regulation and Systems Biology

Open access

Research article

First published 2024

GNE Myopathy: Genotype – Phenotype Correlation and Disease Progression in an Indian Cohort

Dipti Baskar, Nishanth Reddy, Veeramani Preethish-Kumar [...]

Journal of Neuromuscular Diseases

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

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