Associated Papers
Recent progress in oculopharyngodistal myopathy research from clinical and genetic viewpoints.
Ishiura H
Journal of Neuromuscular Diseases, 2025
Choked: A Case Report of Oculopharyngeal Muscular Dystrophy Mimicking Hypothyroidism From the Philippines.
Infante JM et al.
Cureus, 2023
The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy.
Lin F et al.
Annals of Clinical and Translational Neurology, 2023
A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion.
Takahashi Y et al.
Journal of Neuromuscular Diseases, 2023
Bioinformatic identification of previously unrecognized amyloidogenic proteins.
Rosenberg GM et al.
The Journal of Biological Chemistry, 2022
A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation.
Nishii YS et al.
Bmc Neurology, 2021
Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy.
Galimberti V et al.
European Journal of Neurology, 2020
Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.
Nishimura T et al.
Frontiers in Oncology, 2020
32983988 (PubMed )
Supplement: Data_Sheet_2.xlsx › AZ021
Nuclear inclusions mimicking poly(A)-binding protein nuclear 1 inclusions in a case of inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia with a novel mutation in the valosin-containing protein gene.
Matsubara S et al.
Neuromuscular Disorders : Nmd, 2016
Genetic diseases affecting the eyelids: what should a clinician know?
Allen RC
Current Opinion in Ophthalmology, 2013
Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation.
Robinson DO et al.
Neuromuscular Disorders : Nmd, 2011
A GCG expansion (GCG)₁₁ in polyadenylate-binding protein nuclear 1 gene caused oculopharyngeal muscular dystrophy in a Chinese family.
Ye J et al.
Molecular Vision, 2011
Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation.
Robinson DO et al.
Journal of Medical Genetics, 2006
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