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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

GNE Myopathy: Two Clusters with History and Several Founder Mutations

Zohar Argov, Stella Mitrani Rosenbaum

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2013-05

Novel GNE Mutations in Autosomal Recessive Hereditary Inclusion Body Myopathy Patients

Daniel No, Yadira Valles-Ayoub, Rosangela Carbajo [...]

Genetic Testing and Molecular Biomarkers

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

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 2020

Upregulation of Hallmark Muscle Genes Protects Gne M743T/M743T Mutated Knock-In Mice From Kidney and Muscle Phenotype

Hadar Benyamini, Yehuda Kling, Lena Yakovlev [...]

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 2008

Preclinical Assessment of wt GNE Gene Plasmid for Management of Hereditary Inclusion Body Myopathy 2 (HIBM2)

Chris Jay, Gregory Nemunaitis, John Nemunaitis [...]

Gene Regulation and Systems Biology

Retricted access

Research article

First published 2025

GNE -related severe congenital macro-thrombocytopenia in pregnancy

Sivaranjani P, Bhabani Pegu, Murali Subbaiah [...]

Obstetric Medicine

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

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