Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy-Reference-Cited by-同舟云学术

Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy

Published:2017-12-19 Issue:1 Volume:93 Page:119-125
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Al-Obeidi E.¹,Al-Tahan S.¹,Surampalli A.¹,Goyal N.²,Wang A.K.²,Hermann A.³,Omizo M.⁴,Smith C.⁵,Mozaffar T.²,Kimonis V.¹^ORCID

Affiliation:

1. Division of Genetics and Genomic Medicine, Department of Pediatrics; University of California, Irvine; Orange California

2. Neuromuscular Program, Department of Neurology; University of California, Irvine; Orange California

3. Department of Neurology; Technische Universität Dresden, and German Center for Neurodegenerative Diseases (DZNE), Research Side Dresden; 01307 Dresden Germany

4. Deschutes Osteoporosis Center; Bend Oregon

5. Department of Neurology; University of Kentucky Medical School; Lexington Kentucky

Funder

National Institute of Health

UC Irvine ICTS (Institute of Clinical Translational Science)

NCATS

NIH

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13095/fullpdf

Reference58 articles.

1. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein;Watts;Nat Genet,2004

2. Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia;Mehta;Clin Genet,2013

3. The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis;Nalbandian;J Mol Neurosci,2011

4. TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia;Weihl;J Neurol Neurosurg Psychiatry,2008

5. Singer F. MDText.com 2016 http://www.ncbi.nlm.nih.gov/

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