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Department of Human Genetics
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From genetics to mechanism of disease liability.
Advances in genetics , 2008 | Pubmed ID: 18358337
A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction.
PLoS genetics Jul, 2008 | Pubmed ID: 18618000
Molecular biology. Translation goes global.
Science (New York, N.Y.) Dec, 2011 | Pubmed ID: 22174241
LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy.
Annals of neurology Apr, 2013 | Pubmed ID: 23440719
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.
Nature medicine 09, 2014 | Pubmed ID: 25108525
Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.
Annals of neurology Apr, 2015 | Pubmed ID: 25612243
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.
American journal of human genetics Nov, 2016 | Pubmed ID: 27745838
Low-level dystrophin expression attenuating the dystrophinopathy phenotype.
Neuromuscular disorders : NMD 02, 2018 | Pubmed ID: 29305136
Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype.
American journal of medical genetics. Part A 05, 2018 | Pubmed ID: 29681093
X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation.
Skeletal muscle 08, 2020 | Pubmed ID: 32767978
The University of Utah School of Medicine
Camila F. Almeida1,
Emma C. Frair1,
Nianyuan Huang1,
Reid Neinast2,
Kim L. McBride2,3,4,6,
Robert B. Weiss5,
Kevin M. Flanigan1,6,
Nicolas Wein1,6
1Center for Gene Therapy, The Research Institute at Nationwide Children’s Hospital,
2Center for Cardiovascular Research, The Research Institute at Nationwide Children’s Hospital,
3The Heart Center, Nationwide Children’s Hospital,
4Division of Genetic and Genomic Medicine, Nationwide Children’s Hospital,
5Department of Human Genetics, The University of Utah School of Medicine,
6Department of Pediatrics, The Ohio State University
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