MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD-Reference-Cited by-同舟云学术

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MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD

Published:2018-10-12 Issue:3 Volume:28 Page:476-486
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Wang Leo H¹,Friedman Seth D²,Shaw Dennis²³,Snider Lauren⁴,Wong Chao-Jen⁴,Budech Chris B²,Poliachik Sandra L²,Gove Nancy E⁵,Lewis Leann M⁶,Campbell Amy E⁴,Lemmers Richard J F L⁷,Maarel Silvère M⁷,Tapscott Stephen J⁴,Tawil Rabi N⁶

Affiliation:

1. Department of Neurology, University of Washington, Seattle, WA, USA

2. Department of Radiology, Seattle Children’s Hospital, Seattle, WA, USA

3. Department of Radiology, University of Washington, Seattle, WA, USA

4. Human Biology Division, Fred Hutchinson Research Center, Seattle, WA, USA

5. Center for Clinical and Translational Research, Seattle Children’s Hospital, Seattle, WA, USA

6. Neuromuscular Unit, Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA

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

Funder

National Institute of Health

National Institute of Arthritis and Musculoskeletal and Skin diseases

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/28/3/476/27520248/ddy364.pdf

Reference36 articles.

1. Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy;Flanigan;Neuromuscul. Disord.,2001

2. Population-based incidence and prevalence of facioscapulohumeral dystrophy;Deenen;Neurology,2014

3. Evidence-based guideline summary: evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine;Tawil;Neurology,2015

4. A unifying genetic model for facioscapulohumeral muscular dystrophy;Lemmers;Science,2010

5. Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene;Snider;PLoS Genet.,2010

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4. Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial;The Lancet Neurology;2024-05

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