Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy-Reference-Cited by-同舟云学术

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Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy

Published:2016-03-03 Issue:1 Volume:3 Page:101-109
ISSN:2214-3599
Container-title:Journal of Neuromuscular Diseases
language:
Short-container-title:JND

Author:

van der Sluijs B.M.¹²,Raz V.³,Lammens M.⁴⁵,van den Heuvel L.P.⁶,Voermans N.C.¹,van Engelen B.G.M.¹

Affiliation:

1. Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands

2. Department of Neurology, Gelre Hospital Zutphen, Zutphen, The Netherlands

3. Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands

4. Department of Pathology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium

5. Department of Pathology, Radboud University Medical Centre, Nijmegen, The Netherlands

6. Department of Laboratory Medicine and Pediatrics, Translational Metabolic Laboratory, Radboud University Medical Centre, The Netherlands

Publisher

IOS Press

Subject

Neurology (clinical),Neurology

Reference21 articles.

1. Oculopharyngeal muscular dystrophy;Brais;Semin Neurol,1999

2. 191st ENMC International Workshop: Recent advances in oculopahryngeal muscular dystrophy research: From bench to bedside 8-10 June Naarden, The Netherlands;Raz;Neuromuscul Disord,2013

3. Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint;Van der Sluijs;J Neurol,2003

4. Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy;Witting;Acta Neurol Scand,2014

5. Wild-type PABPN1 is anti-apoptotic and reduces toxicity of the oculopharyngealmuscular dystrophy mutation;Davies;Hum Mol Genet,2008

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3. Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy;Acta Neuropathologica;2022-10-05

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