Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands-Reference-Cited by-同舟云学术

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

Published:2022-02-03 Issue:5 Volume:29 Page:1488-1495
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Euro J of Neurology

Author:

Alonso‐Pérez Jorge¹²^ORCID,de León Hernández Juan Carlos²,Pérez‐Pérez Helena³,Mendoza‐Grimón María Dolores⁴,Gutierrez‐Martinez Antonio José⁵,Hadjigeorgiou Ioanna⁶,Montón‐Álvarez Fernando²,González‐Quereda Lidia⁷⁸,Alonso‐Jimenez Alicia⁹^ORCID,Suárez‐Calvet Xavier¹⁸,Díaz‐Manera Jordi¹⁸¹⁰^ORCID

Affiliation:

1. Neuromuscular Diseases Unit Department of Neurology Department of Medicine Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona Barcelona Spain

2. Department of Neurology Hospital Universitario Nuestra Señora de la Candelaria Santa Cruz de Tenerife Spain

3. Department of Neurology Hospital Universitario de Canarias Santa Cruz de Tenerife Spain

4. Department of Neurology Hospital Universitario de Gran Canaria Doctor Negrín Las Palmas de Gran Canaria Spain

5. Department of Neurology Hospital Insular Materno‐Infantil de Canarias Las Palmas de Gran Canaria Spain

6. Department of Neurology Hospital Doctor Jose Molina Orosa Lanzarote Spain

7. Genetics Department IIB Sant Pau Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona Barcelona Spain

8. Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) Valencia Spain

9. Neuromuscular Reference Center Department of Neurology Antwerp University Hospital Antwerp Belgium

10. John Walton Muscular Dystrophy Research Centre Newcastle University and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne UK

Funder

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.15252

Reference30 articles.

1. Oculopharyngeal Muscular Dystrophy

2. Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease

3. Nuclear inclusions in oculopharyngeal muscular dystrophy

4. PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions

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