Jamie L Marshall

Jamie L Marshall

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Jamie L Marshall

Jamie L Marshall

Publications by authors named "Jamie L Marshall"

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Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation.

J Neuromuscul Dis 2019 Aug 31. Epub 2019 Aug 31.

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.3233/JND-190414DOI Listing
August 2019

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/ana.25241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105519PMC
June 2018

Differentiation-related glycan epitopes identify discrete domains of the muscle glycocalyx.

Glycobiology 2016 10 28;26(10):1120-1132. Epub 2016 May 28.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA

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http://dx.doi.org/10.1093/glycob/cww061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241718PMC
October 2016

Quantifying prion disease penetrance using large population control cohorts.

Sci Transl Med 2016 Jan;8(322):322ra9

Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA 02142, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://dx.doi.org/10.1126/scitranslmed.aad5169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774245PMC
January 2016

Sarcospan Regulates Cardiac Isoproterenol Response and Prevents Duchenne Muscular Dystrophy-Associated Cardiomyopathy.

J Am Heart Assoc 2015 Dec 23;4(12). Epub 2015 Dec 23.

Department of Integrative Biology and Physiology, University of California, Los Angeles, CA (M.S.P., J.L.M., R.T.N., V.A.R., R.H.C.W.) Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA (M.S.P., J.L.M., M.C.J., V.A.R., K.P.R., R.H.C.W.) Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA (R.H.C.W.).

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http://jaha.ahajournals.org/content/4/12/e002481.full.pdf+ht
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http://jaha.ahajournals.org/lookup/doi/10.1161/JAHA.115.0024
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http://dx.doi.org/10.1161/JAHA.115.002481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845268PMC
December 2015

Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype.

Cell 2015 Nov 12;163(5):1204-1213. Epub 2015 Nov 12.

Human Genome and Stem Cell Center, Biosciences Institute, University of São Paulo, São Paulo 05508-090, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2015.10.049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4668935PMC
November 2015

Sarcospan integration into laminin-binding adhesion complexes that ameliorate muscular dystrophy requires utrophin and α7 integrin.

Hum Mol Genet 2015 Apr 11;24(7):2011-22. Epub 2014 Dec 11.

Department of Integrative Biology and Physiology, Center for Duchenne Muscular Dystrophy, Molecular Biology Institute, Department of Neurology, University of California, Los Angeles, CA 90095, USA and

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http://dx.doi.org/10.1093/hmg/ddu615DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4355028PMC
April 2015

The potential of sarcospan in adhesion complex replacement therapeutics for the treatment of muscular dystrophy.

FEBS J 2013 Sep 13;280(17):4210-29. Epub 2013 May 13.

Department of Integrative Biology and Physiology, University of California, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1111/febs.12295DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3855357PMC
September 2013

Sarcospan: a small protein with large potential for Duchenne muscular dystrophy.

Skelet Muscle 2013 Jan 3;3(1). Epub 2013 Jan 3.

Department of Integrative Biology and Physiology, University of California Los Angeles, 610 Charles E, Young Drive East, Terasaki Life Sciences Building, Los Angeles, CA, 90095, USA.

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http://dx.doi.org/10.1186/2044-5040-3-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599653PMC
January 2013

Sarcospan-dependent Akt activation is required for utrophin expression and muscle regeneration.

J Cell Biol 2012 Jun;197(7):1009-27

Department of Integrative Biology and Physiology and 2 Molecular Biology Institute, University of California-Los Angeles, Los Angeles, CA 90095, USA.

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http://www.jcb.org/lookup/doi/10.1083/jcb.201110032
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http://dx.doi.org/10.1083/jcb.201110032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3384411PMC
June 2012

Sarcospan reduces dystrophic pathology: stabilization of the utrophin-glycoprotein complex.

J Cell Biol 2008 Nov;183(3):419-27

Department of Physiological Science and 2Molecular Biology Institute, University of California, Los Angeles, Los Angeles, CA 90095, USA.

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http://www.jcb.org/lookup/doi/10.1083/jcb.200808027
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http://dx.doi.org/10.1083/jcb.200808027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2575773PMC
November 2008