Research & Literature

A South African family with oculopharyngeal muscular dystrophy: Clinical and molecular genetic characteristics.

Schutte CM, Dorfling CM, van Coller R, et al.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2015; (105(7)):540-3 doi:10.7196/SAMJnew.7880.

The relationship between physical symptoms and health-related quality of life in oculopharyngeal muscular dystrophy.

Youssof S

Muscle & nerve 2016; (53(5)):694-9 doi:10.1002/mus.24932.

Dropped-head in recessive oculopharyngeal muscular dystrophy.

Garibaldi M, Pennisi EM, Bruttini M, et al.

Neuromuscular disorders : NMD 2015; (25(11)):869-72.

The Dutch patients' perspective on oculopharyngeal muscular dystrophy: A questionnaire study on fatigue, pain and impairments.

van der Sluijs BM, Knoop H, Bleijenberg G, et al.

Neuromuscular disorders : NMD 2016; (26(3)):221-6.

PABPN1-Dependent mRNA Processing Induces Muscle Wasting.

Riaz M, Raz Y, van Putten M, et al.

PLoS genetics 2016; (12(5)):e1006031 doi:10.1371/journal.pgen.1006031.

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, Shimizu T, Komori T, et al.

Neuromuscular disorders : NMD 2016; (26(7)):436-40.

Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing.

Klein P, Oloko M, Roth F, et al.

Nucleic acids research 2016; (44(22)):10929-10945 doi:10.1093/nar/gkw703.

Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome.

Newman H, Blumen SC, Braverman I, et al.

Investigative ophthalmology & visual science 2016; (57(13)):5361-5371 doi:10.1167/iovs.16-19505.

Dysphagia-related quality of life in oculopharyngeal muscular dystrophy: Psychometric properties of the SWAL-QOL instrument.

Youssof S, Romero-Clark C, Warner T, Plowman E

Muscle & nerve 2017; (56(1)):28-35 doi:10.1002/mus.25441.

Utility of surgical myotomy in the dysphagia due to oculopharyngeal dystrophy.

Acosta Mérida Mª, Marchena Gómez J, Afonso Déniz JM

Revista espanola de enfermedades digestivas 2016; (108(12)):843-844 doi:10.17235/reed.2016.4266/2016.

Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy.

van der Sluijs BM, Raz V, Lammens M, et al.

Journal of neuromuscular diseases 2016; (3(1)):101-109 doi:10.3233/JND-150118.

Characterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD).

Cruz-Aguilar M, Guerrero-de Ferran C, Tovilla-Canales JL, et al.

Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2017; (65(3)):705-708 doi:10.1136/jim-2016-000184.

Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy.

Richard P, Trollet C, Stojkovic T, et al.

Neurology 2017; (88(4)):359-365 doi:10.1212/WNL.0000000000003554.

The Epidemiology of Neuromuscular Disorders: A Comprehensive Overview of the Literature.

Deenen JC, Horlings CG, Verschuuren JJ, et al.

Journal of neuromuscular diseases 2015; (2(1)):73-85.

PABPN1 gene therapy for oculopharyngeal muscular dystrophy.

Malerba A, Klein P, Bachtarzi H, et al.

Nature communications 2017; (8()):14848 doi:10.1038/ncomms14848.

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

Braverman I, Blumen SC, Newman H, et al.

Genetic testing and molecular biomarkers 2017; (21(7)):450-453 doi:10.1089/gtmb.2016.0429.

Involvement of pelvic girdle and proximal leg muscles in early oculopharyngeal muscular dystrophy.

van der Sluijs BM, Lassche S, Knuiman GJ, et al.

Neuromuscular disorders : NMD 2017; (27(12)):1099-1105 doi:10.1016/j.nmd.2017.09.010.

Dysphagia with fatal choking in oculopharyngeal muscular dystrophy: Case report.

Chen AW, Wu SL, Cheng WL, et al.

Medicine 2018; (97(43)):e12935 doi:10.1097/MD.0000000000012935.

Diagnostics of short tandem repeat expansion variants using massively parallel sequencing and componential tools.

de Leeuw RH, Garnier D, Kroon RMJM, et al.

European journal of human genetics : EJHG 2019; (27(3)):400-407 doi:10.1038/s41431-018-0302-4.

Abdominal paradox encountered in neuromuscular disease: A possible clue for cor pulmonale.

Im SI, Kim EJ, Kim SW

Journal of cardiology cases 2013; (7(3)):e71-e73 doi:10.1016/j.jccase.2012.10.010.

Pharmacological modulation of the ER stress response ameliorates oculopharyngeal muscular dystrophy.

Malerba A, Roth F, Harish P, et al.

Human molecular genetics 2019; (28(10)):1694-1708 doi:10.1093/hmg/ddz007.

Established PABPN1 intranuclear inclusions in OPMD muscle can be efficiently reversed by AAV-mediated knockdown and replacement of mutant expanded PABPN1.

Malerba A, Klein P, Lu-Nguyen N, et al.

Human molecular genetics 2019; (28(19)):3301-3308 doi:10.1093/hmg/ddz167.

Patient-reported disease burden in oculopharyngeal muscular dystrophy.

Kurtz NS, Cote C, Heatwole C, et al.

Muscle & nerve 2019; (60(6)):724-731 doi:10.1002/mus.26712.

Oculopharyngeal Muscular Dystrophy, an Often Misdiagnosed Neuromuscular Disorder: A Southern California Experience.

Goyal NA, Mozaffar T, Chui LA

Journal of clinical neuromuscular disease 2019; (21(2)):61-68 doi:10.1097/CND.0000000000000271.

Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy.

Galimberti V, Tironi R, Lerario A, et al.

European journal of neurology 2020; (27(4)):709-715 doi:10.1111/ene.14131.

Severe Ocular Complications After Blepharoptosis Correction in the Oculopharyngeal Muscular Dystrophy Patient: Literature Review and Case Presentation.

Lin TY, Chen AD, Chang CH, et al.

Annals of plastic surgery 2020; (84(1S Suppl 1)):S84-S88 doi:10.1097/SAP.0000000000002198.

A study of impairments in oculopharyngeal muscular dystrophy.

Brisson JD, Gagnon C, Brais B, et al.

Muscle & nerve 2020; (62(2)):201-207 doi:10.1002/mus.26888.

Fourier-Transform Infrared Spectroscopy of Skeletal Muscle Tissue: Expanding Biomarkers in Primary Mitochondrial Myopathies.

Gervasoni J, Primiano A, Marini F, et al.

Genes 2020; (11(12)) doi:10.3390/genes11121522.

BB-301: a silence and replace AAV-based vector for the treatment of oculopharyngeal muscular dystrophy.

Strings-Ufombah V, Malerba A, Kao SC, et al.

Molecular therapy. Nucleic acids 2021; (24()):67-78 doi:10.1016/j.omtn.2021.02.017.

Recent Progress in Oculopharyngeal Muscular Dystrophy.

Yamashita S

Journal of clinical medicine 2021; (10(7)) doi:10.3390/jcm10071375.

Nutritional Risk in Oculopharyngeal Muscular Dystrophy: Beyond Dysphagia.

Forgues C, Fortin J, Gagnon C, et al.

Canadian journal of dietetic practice and research : a publication of Dietitians of Canada = Revue canadienne de la pratique et de la recherche en dietetique : une publication des Dietetistes du Canada 2021; (82(2)):95-97 doi:10.3148/cjdpr-2021-003.

A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation.

Nishii YS, Noto YI, Yasuda R, et al.

BMC neurology 2021; (21(1)):265 doi:10.1186/s12883-021-02300-x.

Longitudinal Assessment of Strength, Functional Capacity, Oropharyngeal Function, and Quality of Life in Oculopharyngeal Muscular Dystrophy.

Kroon RHMJM, Kalf JG, de Swart BJM, et al.

Neurology 2021; (97(15)):e1475-e1483 doi:10.1212/WNL.0000000000012640.

Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands.

Alonso-Pérez J, de León Hernández JC, Pérez-Pérez H, et al.

European journal of neurology 2022; (29(5)):1488-1495 doi:10.1111/ene.15252.

Botulinum toxin treatment improves dysphagia in patients with oculopharyngeal muscular dystrophy and sporadic inclusion body myositis.

Witting N, Daugaard D, Prytz S, et al.

Journal of neurology 2022; (269(8)):4154-4160 doi:10.1007/s00415-022-11028-8.

A review of surgical management of progressive myogenic ptosis.

Park RB, Akella SS, Aakalu VK

Orbit (Amsterdam, Netherlands) 2023; (42(1)):11-24 doi:10.1080/01676830.2022.2122514.

Diagnosing myasthenia gravis using orthoptic measurements: assessing extraocular muscle fatiguability.

Keene KR, de Nie JM, Brink MJ, et al.

Journal of neurology, neurosurgery, and psychiatry 2023; (94(2)):151 doi:10.1136/jnnp-2022-329859.

Systemic Delivery of a Monoclonal Antibody to Immunologically Block Myostatin in the A17 Mouse Model of OPMD.

Malerba A, Harish P, Popplewell L

Methods in molecular biology (Clifton, N.J.) 2023; (2587()):557-568 doi:10.1007/978-1-0716-2772-3_30.

Quantitative vs qualitative muscle MRI: Imaging biomarker in patients with Oculopharyngeal Muscular Dystrophy (OPMD).

Melkus G, Sampaio ML, Smith IC, et al.

Neuromuscular disorders : NMD 2023; (33(1)):24-31 doi:10.1016/j.nmd.2022.09.010.

[Nuclear aggregates in oculopharyngeal muscular dystrophy].

Boulinguiez A, Roth F, Mouigni HR, et al.

Medecine sciences : M/S 2022; (38 Hors série n° 1()):13-16 doi:10.1051/medsci/2022175.

The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy.

Lin F, Yang K, Lin MT, et al.

Annals of clinical and translational neurology 2023; (10(3)):426-439 doi:10.1002/acn3.51733.

The small compound Icerguastat reduces muscle defects in oculopharyngeal muscular dystrophy through the PERK pathway of the unfolded protein response.

Naït-Saïdi R, Chartier A, Abgueguen E, et al.

Open biology 2023; (13(4)):230008 doi:10.1098/rsob.230008.

Eye Muscle MRI in Myasthenia Gravis and Other Neuromuscular Disorders.

Keene KR, Notting IC, Verschuuren JJGM, et al.

Journal of neuromuscular diseases 2023; (10(5)):869-883 doi:10.3233/JND-230023.

PABPN1 aggregation is driven by Ala expansion and poly(A)-RNA binding, leading to CFIm25 sequestration that impairs alternative polyadenylation.

Guan WL, Jiang LL, Yin XF, Hu HY

The Journal of biological chemistry 2023; (299(8)):105019 doi:10.1016/j.jbc.2023.105019.

Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review.

Middelink M, Voermans NC, van Engelen BGM, et al.

Journal of neuromuscular diseases 2023; (10(5)):777-785 doi:10.3233/JND-230014.

Choked: A Case Report of Oculopharyngeal Muscular Dystrophy Mimicking Hypothyroidism From the Philippines.

Infante JM, Nepomuceno BL

Cureus 2023; (15(6)):e41025 doi:10.7759/cureus.41025.

Characteristics of the muscle involvement along the disease progression in a large cohort of oculopharyngodistal myopathy compared to oculopharyngeal muscular dystrophy.

Eura N, Noguchi S, Ogasawara M, et al.

Journal of neurology 2023; (270(12)):5988-5998 doi:10.1007/s00415-023-11906-9.

Introducing the Dysphagiameter: a novel patient-reported outcome measure for evaluating dysphagia in oculopharyngeal muscular dystrophy - from conceptual framework to initial development.

Côté C, Brais B, Sèbiyo Batcho C, et al.

Neuromuscular disorders : NMD 2023; (33(11)):856-865 doi:10.1016/j.nmd.2023.09.001.

Emerging and established biomarkers of oculopharyngeal muscular dystrophy.

Smith IC, Chakraborty S, Bourque PR, et al.

Neuromuscular disorders : NMD 2023; (33(11)):824-834 doi:10.1016/j.nmd.2023.09.010.

HNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype.

Carroll LS, Ennis S, Foulds N, Hammans SR

Neuromuscular disorders : NMD 2024; (34()):27-31 doi:10.1016/j.nmd.2023.11.002.

Ocular manifestations and outcomes of OPMD- a report from the national IsrOPMD registry.

Mekiten O, Zvulunov A, Ben Simon G, et al.

European journal of ophthalmology 2025; (35(2)):451-455 doi:10.1177/11206721241259145.

Oculopharyngeal Muscular Dystrophy: A Case Report From Puerto Rico.

Menendez Sepulveda JA, Izquierdo N

Cureus 2024; (16(7)):e65766 doi:10.7759/cureus.65766.

Social Participation Restrictions and Explanatory Factors in Adults with Oculopharyngeal Muscular Dystrophy.

Muslemani S, Brisson JD, Côté I, et al.

Canadian journal of occupational therapy. Revue canadienne d'ergotherapie 2025; (92(1)):29-38 doi:10.1177/00084174241255472.

Oculopharyngeal muscular dystrophy, myasthenia gravis, systemic lupus erythematosus: overlap and interactions.

M Barbosa J, A Pereira P

BMJ case reports 2024; (17(11)) doi:10.1136/bcr-2024-262742.

Measurement Properties of the Dysphagiameter for the Assessment of Dysphagia in Oculopharyngeal Muscular Dystrophy.

Côté C, Brais B, Batcho CS, et al.

Dysphagia 2025; (40(4)):931-942 doi:10.1007/s00455-024-10791-2.

Safety and efficacy of trehalose in amyotrophic lateral sclerosis (HEALEY ALS Platform Trial): an adaptive, phase 2/3, double-blind, randomised, placebo-controlled trial.

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The Lancet. Neurology 2025; (24(6)):500-511 doi:10.1016/S1474-4422(25)00173-5.

Nuclear Protein Aggregates Disrupt RNA Processing and Alter Biomechanics in a Muscle Cell Model of OPMD.

Shademan M, Flannery S, Bos E, et al.

Aging and disease 2025; doi:10.14336/AD.2025.0699.

Insights into the heterogeneity of oculopharyngeal muscular dystrophy.

Kekou K, Papadopoulos C, Svingou M, et al.

Neurogenetics 2025; (26(1)):68 doi:10.1007/s10048-025-00849-0.

Recurrent Pneumonia in a Patient With Oculopharyngeal Muscular Dystrophy (OPMD) due to GCN Expansion in the PABPN1 Gene: A Diagnostic Challenge.

Mañana Valdés C, Arias Guillén M, Moris de la Tassa G

Open respiratory archives 2026; (8(2)):100580 doi:10.1016/j.opresp.2026.100580.