Publications by authors named "Charlotte J Sumner"

67Publications

The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases.

Mol Syst Biol 2020 Dec;16(12):e9701

Cancer Data Science Laboratory (CDSL), National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

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December 2020

Motor unit gains in treated spinal muscular atrophy patients.

J Neurol Neurosurg Psychiatry 2020 Oct 26. Epub 2020 Oct 26.

Department of Neurology, Louisiana State University, New Orleans, Louisiana, USA.

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October 2020

The nonselective cation channel TRPV4 inhibits angiotensin II receptors.

J Biol Chem 2020 07 3;295(29):9986-9997. Epub 2020 Jun 3.

Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

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July 2020

TRPV4 Antagonism Prevents Mechanically Induced Myotonia.

Ann Neurol 2020 08 22;88(2):297-308. Epub 2020 Jun 22.

Department of Neuroscience, Cell Biology and Physiology, Wright State University, Dayton, OH, USA.

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August 2020

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.

Neurology 2020 03 11;94(9):e884-e896. Epub 2020 Feb 11.

From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P.,* D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.*), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PA.

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March 2020

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

J Clin Invest 2019 10;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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October 2019

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

Neurology 2019 10 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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October 2019

Genetic approaches to the treatment of inherited neuromuscular diseases.

Hum Mol Genet 2019 10;28(R1):R55-R64

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

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October 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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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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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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June 2017