Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy-Reference-Cited by-同舟云学术

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Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy

Published:2001-03 Issue:1 Volume:21 Page:45-52
ISSN:0919-6544
Container-title:Neuropathology
language:en
Short-container-title:Neuropathology

Author:

Schober Ralf,Kress Wolfram,Grahmann Friedrich,Kellermann Steffen,Baum Petra,Gunzel Steffen,Wagner Armin

Publisher

Wiley

Subject

Clinical Neurology,General Medicine,Pathology and Forensic Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1440-1789.2001.00374.x/fullpdf

Reference33 articles.

1. 1. Online Mendelian Inheritance in Man OMIMtm. Baltimore, MD: Johns Hopkins University, 1998. MIM number: 164300. http://www.ncbi.nih.gov/omim/

2. The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2−q13

3. PROGRESSIVE VAGUS-GLOSSOPHARYNGEAL PARALYSIS WITH PTOSIS. A CONTRIBUTION TO THE GROUP OF FAMILY, DISEASES

4. Oculopharyngeal Muscular Dystrophy

5. Muscular Dystrophy

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1. Gene Therapy for Oculopharyngeal Muscular Dystrophy;Muscle Gene Therapy;2019

2. Distrofia muscolare oculofaringea;EMC - Neurologia;2017-02

3. Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/β-catenin pathway;Cell Death & Disease;2013-10

4. PABPN1: molecular function and muscle disease;FEBS Journal;2013-05-24

5. Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy;Journal of Neurology;2012-01-10

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