Charlotte J Sumner

Charlotte J Sumner

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Charlotte J Sumner

Charlotte J Sumner

Publications by authors named "Charlotte J Sumner"

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Spinal muscular atrophy: Further expanding the clinician's armamentarium.

Neurology 2019 Oct 5;93(14):613-614. Epub 2019 Sep 5.

From the Department of Neurology (J.F.B.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; Neuromuscular Section (J.F.B.), Division of Neurology, Children's Hospital of Philadelphia, PA; and Neurology and Neuroscience (C.J.S.), The Johns Hopkins University School of Medicine, Baltimore, MD.

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http://dx.doi.org/10.1212/WNL.0000000000008192DOI Listing
October 2019

Equity and diversity in academic medicine: a perspective from the JCI editors.

J Clin Invest 2019 Oct;129(10):3974-3977

Department of Environmental Health and Engineering, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1172/JCI130902DOI Listing
October 2019

Motor neuron loss in SMA is not associated with somal stress-activated JNK/c-Jun signaling.

Hum Mol Genet 2019 Jul 4. Epub 2019 Jul 4.

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1093/hmg/ddz150DOI Listing
July 2019

Genetic approaches to the treatment of inherited neuromuscular diseases.

Hum Mol Genet 2019 Jun 22. Epub 2019 Jun 22.

Department of Pathology, University of Michigan Medical School, Ann Arbor, MI 48109.

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http://dx.doi.org/10.1093/hmg/ddz131DOI Listing
June 2019

Two breakthrough gene-targeted treatments for spinal muscular atrophy: challenges remain.

J Clin Invest 2018 08 9;128(8):3219-3227. Epub 2018 Jul 9.

Department of Neurology.

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http://dx.doi.org/10.1172/JCI121658DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063504PMC
August 2018

TRPV1 is a physiological regulator of μ-opioid receptors.

Proc Natl Acad Sci U S A 2017 12 4;114(51):13561-13566. Epub 2017 Dec 4.

The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205;

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http://dx.doi.org/10.1073/pnas.1717005114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5754810PMC
December 2017

Measuring G-protein-coupled Receptor Signaling via Radio-labeled GTP Binding.

J Vis Exp 2017 06 9(124). Epub 2017 Jun 9.

The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine; Departments of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine;

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http://dx.doi.org/10.3791/55561DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5608332PMC
June 2017

The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy.

Neuron 2017 Jan 22;93(1):66-79. Epub 2016 Dec 22.

Department of Neurology, Johns Hopkins University School of Medicine, 855 North Wolfe Street, Baltimore, MD 21205, USA; Department of Neuroscience, Johns Hopkins University School of Medicine, 855 North Wolfe Street, Baltimore, MD 21205, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2016.11.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223741PMC
January 2017

Whole-body MR neurography: Prospective feasibility study in polyneuropathy and Charcot-Marie-Tooth disease.

J Magn Reson Imaging 2016 12 29;44(6):1513-1521. Epub 2016 Apr 29.

Neurology, Johns Hopkins University, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1002/jmri.25293DOI Listing
December 2016

Genetics and genomic medicine in Mali: challenges and future perspectives.

Mol Genet Genomic Med 2016 Mar 17;4(2):126-34. Epub 2016 Mar 17.

Neurogenetics Branch National Institute of Neurological Disorders and Stroke (NINDS) National Institutes of Health (NIH) Bethesda Maryland.

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http://dx.doi.org/10.1002/mgg3.212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4799869PMC
March 2016

Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy.

Neurol Genet 2015 Dec 22;1(4):e29. Epub 2015 Oct 22.

Department of Neurology (J.M.S., W.A., B.B., C.J.S.), Johns Hopkins University School of Medicine, Baltimore, MD; Department of Molecular and Cellular Biology (C.M.Z., R.G.), Harvard University, Cambridge, MA; Department of Neurology (D.-H.C., T.D.B.), University of Washington School of Medicine, Seattle, WA; Department of Neurology (J.W.D., C.E.S.), Stanford Health Care, Stanford, CA; and Department of Neuroscience (C.J.S.), Johns Hopkins University, Baltimore, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811381PMC
December 2015

Astrocytes influence the severity of spinal muscular atrophy.

Hum Mol Genet 2015 Jul 24;24(14):4094-102. Epub 2015 Apr 24.

Department of Veterinary Pathobiology and Department of Molecular Microbiology and Immunology, University of Missouri, Bond Life Sciences Center, Columbia, MO 65211, USA,

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http://dx.doi.org/10.1093/hmg/ddv148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5007659PMC
July 2015

Spinal Muscular Atrophy Therapeutics: Where do we Stand?

Neurotherapeutics 2015 Apr;12(2):303-16

Department of Neurology, Johns Hopkins University School of Medicine, 855 North Wolfe St., Baltimore, MD, 21205, USA.

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http://dx.doi.org/10.1007/s13311-015-0337-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4404440PMC
April 2015

A TRPV channel in Drosophila motor neurons regulates presynaptic resting Ca2+ levels, synapse growth, and synaptic transmission.

Neuron 2014 Nov 30;84(4):764-77. Epub 2014 Oct 30.

Department of Integrative Biology and Pharmacology, University of Texas School of Medicine, 6431 Fannin Street, Houston, TX 77030, USA; Graduate Program in Developmental Biology, Baylor College of Medicine, 1250 Moursund Street, Suite N1125.14, Mailstop NR-1125, Houston, TX 77030, USA; Graduate Programs in Cell and Regulatory Biology (CRB) and Neuroscience, Graduate School of Biomedical Sciences, University of Texas School of Medicine, Houston, TX 77030. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2014.09.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4254599PMC
November 2014

Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics.

Hum Mol Genet 2014 Sep 23;23(18):4745-57. Epub 2014 Apr 23.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke and Department of Anatomy, Physiology and Genetics, Uniformed Services University of the Health Sciences, F. Edward Hebert School of Medicine, Bethesda, MD, USA

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http://hmg.oxfordjournals.org/content/early/2014/04/23/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu189
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http://dx.doi.org/10.1093/hmg/ddu189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4140458PMC
September 2014

Improvement of neuromuscular synaptic phenotypes without enhanced survival and motor function in severe spinal muscular atrophy mice selectively rescued in motor neurons.

PLoS One 2013 23;8(9):e75866. Epub 2013 Sep 23.

Department of Neuroscience and Experimental Therapeutics, College of Medicine, Texas A&M Health Science Center, Bryan, Texas, United States of America ; Texas A&M Institute for Neuroscience, Bryan, Texas, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0075866PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3781079PMC
July 2014

SMN is essential for the biogenesis of U7 small nuclear ribonucleoprotein and 3'-end formation of histone mRNAs.

Cell Rep 2013 Dec;5(5):1187-95

Center for Motor Neuron Biology and Disease, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2013.11.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885245PMC
December 2013

Spinal muscular atrophy, John Griffin, and mentorship.

J Peripher Nerv Syst 2012 Dec;17 Suppl 3:52-6

Department of Neurology; Department of Neuroscience, Johns Hopkins School of Medicine, 855 North Wolfe St., Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1111/j.1529-8027.2012.00432.xDOI Listing
December 2012

Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice.

Hum Mol Genet 2012 Oct 13;21(20):4448-59. Epub 2012 Jul 13.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1093/hmg/dds286DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3529584PMC
October 2012

Sciatic nerve tumor and tumor-like lesions - uncommon pathologies.

Skeletal Radiol 2012 Jul 13;41(7):763-74. Epub 2012 Mar 13.

The Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1007/s00256-012-1384-7DOI Listing
July 2012

Progress and promise: the current status of spinal muscular atrophy therapeutics.

Discov Med 2011 Oct;12(65):291-305

Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.

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October 2011

Increased IGF-1 in muscle modulates the phenotype of severe SMA mice.

Hum Mol Genet 2011 May 16;20(9):1844-53. Epub 2011 Feb 16.

Department of Neurology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.

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http://dx.doi.org/10.1093/hmg/ddr067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3071675PMC
May 2011

Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy.

Neuron 2011 Feb;69(3):453-67

Section on Developmental Biology, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.neuron.2010.12.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3044334PMC
February 2011

The genetics of spinal muscular atrophies.

Curr Opin Neurol 2010 Oct;23(5):450-8

Department of Neurology, Johns Hopkins University, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1097/WCO.0b013e32833e1765DOI Listing
October 2010

Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice.

Hum Mol Genet 2009 Sep 28;18(17):3145-52. Epub 2009 May 28.

Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1093/hmg/ddp253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2733819PMC
September 2009

Regulation of SMN protein stability.

Mol Cell Biol 2009 Mar 22;29(5):1107-15. Epub 2008 Dec 22.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.

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http://mcb.asm.org/cgi/doi/10.1128/MCB.01262-08
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http://dx.doi.org/10.1128/MCB.01262-08DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2643817PMC
March 2009

Emerging treatment options for spinal muscular atrophy.

Curr Treat Options Neurol 2009 Mar;11(2):90-101

Charlotte J. Sumner, MD 600 North Wolfe Street, Meyer 5-119b, Baltimore, MD 21287, USA.

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March 2009

Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition.

Ann Neurol 2008 Oct;64(4):465-70

Animal Care Division, National Institute of Neurological Disorders and Stroke, National Institute of Health, Johns Hopkins University, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1002/ana.21449DOI Listing
October 2008

Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?

Arch Neurol 2008 Apr;65(4):520-4

Cellular Neurology Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-3704, USA.

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http://dx.doi.org/10.1001/archneur.65.4.520DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5580255PMC
April 2008

Targeting splicing in spinal muscular atrophy.

Ann Neurol 2008 Jan;63(1):3-6

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http://dx.doi.org/10.1002/ana.21305DOI Listing
January 2008

Molecular mechanisms of spinal muscular atrophy.

J Child Neurol 2007 Aug;22(8):979-89

Department of Neurology, Johns Hopkins University, Baltimore, Maryland 21287, USA.

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http://dx.doi.org/10.1177/0883073807305787DOI Listing
August 2007

Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia.

Arch Neurol 2007 Jun;64(6):803-8

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-3705, USA.

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http://dx.doi.org/10.1001/archneur.64.6.803DOI Listing
June 2007

Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy.

J Clin Invest 2007 Mar 22;117(3):659-71. Epub 2007 Feb 22.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, MA 20892, USA.

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http://dx.doi.org/10.1172/JCI29562DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1797603PMC
March 2007

Therapeutics development for spinal muscular atrophy.

NeuroRx 2006 Apr;3(2):235-45

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://link.springer.com/10.1016/j.nurx.2006.01.010
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http://dx.doi.org/10.1016/j.nurx.2006.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3593434PMC
April 2006

A novel cell immunoassay to measure survival of motor neurons protein in blood cells.

BMC Neurol 2006 Feb 1;6. Epub 2006 Feb 1.

Howard Hughes Medical Institute And Department of Biochemistry & Biophysics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104-6148, USA.

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http://dx.doi.org/10.1186/1471-2377-6-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1413553PMC
February 2006

The role of histone acetylation in SMN gene expression.

Hum Mol Genet 2005 May 16;14(9):1171-82. Epub 2005 Mar 16.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA.

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http://hmg.oxfordjournals.org/content/14/9/1171.full.pdf
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http://hmg.oxfordjournals.org/content/early/2005/03/16/hmg.d
Web Search
http://www.hmg.oupjournals.org/cgi/doi/10.1093/hmg/ddi130
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http://dx.doi.org/10.1093/hmg/ddi130DOI Listing
May 2005

Valproic acid increases SMN levels in spinal muscular atrophy patient cells.

Ann Neurol 2003 Nov;54(5):647-54

Neurogenetics Branch, National Institute of Neurologic Diseases and Stroke/NIH, Building 10, Room 3B-14, MSC 1250, 10 Center Drive, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1002/ana.10743DOI Listing
November 2003

Recurrent myelopathy after HAART in a patient with spinal mycobacterial infection.

Neurology 2003 Jul;61(1):139-40

Department of Neurology, University of California, San Francisco, USA.

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http://dx.doi.org/10.1212/01.wnl.0000068530.40131.d2DOI Listing
July 2003

Jaw drop in Kennedy's disease.

Neurology 2002 Nov;59(9):1471-2

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1212/01.wnl.0000033325.01878.13DOI Listing
November 2002

Should thrombolysis be contraindicated in patients with cerebral arteriovenous malformations?

Crit Care Med 2002 Oct;30(10):2359-62

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1097/00003246-200210000-00028DOI Listing
October 2002