Sage Journals: Discover world-class research

Open access

Research article

First published

An Antibody to Detect Alanine-Expanded PABPN1: A New Tool to Study Oculopharyngeal Muscular Dystrophy

Katherine E. Vest, Luciano H. Apponi, Ayan Banerjee [...]

Journal of Neuromuscular Diseases

Open access

Case report

First published 2023-05-02

A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion

Yoshiaki Takahashi, Nobutoshi Morimoto, Tomoaki Nada [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2017-3

Characterization of Pabpn1 Expansion Mutations in a Large Cohort of Mexican Patients with Oculopharyngeal Muscular Dystrophy (Opmd)

Marisa Cruz-Aguilar, Caroline Guerrero-de Ferran, Jose Luis Tovilla-Canales [...]

Journal of Investigative Medicine

Retricted access

Research article

First published 2017-07

Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes

Itzhak Braverman, Sergiu C. Blumen, Hadas Newman [...]

Genetic Testing and Molecular Biomarkers

Free access

Review article

First published

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy –Consequences in Clinical Diagnosis and Genetic Counselling

Pascale Richard, Capucine Trollet, Teresa Gidaro [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2019-05

Metabolomics Associated with Genome-Wide Association Study Related to the Basal Metabolic Rate in Overweight/Obese Korean Women

Min Jung Kim, Jin Hee Kim, Myung-Sunny Kim [...]

Journal of Medicinal Food

Free access

Research article

First published 2016

Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy

B.M. van der Sluijs, V. Raz, M. Lammens [...]

Journal of Neuromuscular Diseases

Retricted access

Review article

First published 2015-05

Progress on Gene Therapy,Cell Therapy,and Pharmacological Strategies Toward the Treatment of Oculopharyngeal Muscular Dystrophy

Pradeep Harish, Alberto Malerba, George Dickson [...]

Human Gene Therapy

Retricted access

Research article

First published 2019-11-26

Genome-Wide Methylation of Mild Cognitive Impairment in Mexican Americans Highlights Genes Involved in Synaptic Transport,Alzheimer’s Disease-Precursor Phenotypes,and Metabolic Morbidities

Gita A. Pathak, Talisa K. Silzer, Jie Sun [...]

Journal of Alzheimer’s Disease

Open access

Research article

First published 2025-3

Plasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophy

Ian C Smith, Marcos L Sampaio, Gerd Melkus [...]

Journal of Neuromuscular Diseases

Search results