Charlotte J. Sumner The Solomon H. Snyder Department of Neuroscience Johns Hopkins University School of Medicine Biography Publications Institution JoVE Articles Charlotte J. Sumner has not added a biography. If you are Charlotte J. Sumner and would like to personalize this page please email our Author Liaison for assistance. Publications The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy Neuron. Jan, 2017 | Pubmed ID: 28017471 Whole-body MR Neurography: Prospective Feasibility Study in Polyneuropathy and Charcot-Marie-Tooth Disease Journal of Magnetic Resonance Imaging : JMRI. Dec, 2016 | Pubmed ID: 27126998 Genetics and Genomic Medicine in Mali: Challenges and Future Perspectives Molecular Genetics & Genomic Medicine. Mar, 2016 | Pubmed ID: 27066513 Novel Mutations Highlight the Key Role of the Ankyrin Repeat Domain in TRPV4-mediated Neuropathy Neurology. Genetics. Dec, 2015 | Pubmed ID: 27066566 Genotype-phenotype Characteristics and Baseline Natural History of Heritable Neuropathies Caused by Mutations in the MPZ Gene Brain : a Journal of Neurology. Nov, 2015 | Pubmed ID: 26310628 Astrocytes Influence the Severity of Spinal Muscular Atrophy Human Molecular Genetics. Jul, 2015 | Pubmed ID: 25911676 Non-aggregating Tau Phosphorylation by Cyclin-dependent Kinase 5 Contributes to Motor Neuron Degeneration in Spinal Muscular Atrophy The Journal of Neuroscience : the Official Journal of the Society for Neuroscience. Apr, 2015 | Pubmed ID: 25878277 Spinal Muscular Atrophy Therapeutics: Where Do We Stand? Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics. Apr, 2015 | Pubmed ID: 25631888 A TRPV Channel in Drosophila Motor Neurons Regulates Presynaptic Resting Ca2+ Levels, Synapse Growth, and Synaptic Transmission Neuron. Nov, 2014 | Pubmed ID: 25451193 Phenotypic Spectrum and Incidence of TRPV4 Mutations in Patients with Inherited Axonal Neuropathy Neurology. Nov, 2014 | Pubmed ID: 25404646 Survival Motor Neuron Protein Deficiency Impairs Myotube Formation by Altering Myogenic Gene Expression and Focal Adhesion Dynamics Human Molecular Genetics. Sep, 2014 | Pubmed ID: 24760765 SMN is Essential for the Biogenesis of U7 Small Nuclear Ribonucleoprotein and 3'-end Formation of Histone MRNAs Cell Reports. Dec, 2013 | Pubmed ID: 24332368 A Dominant Mutation in FBXO38 Causes Distal Spinal Muscular Atrophy with Calf Predominance American Journal of Human Genetics. Nov, 2013 | Pubmed ID: 24207122 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 | Pubmed ID: 24086650 The DcpS Inhibitor RG3039 Improves Motor Function in SMA Mice Human Molecular Genetics. Oct, 2013 | Pubmed ID: 23727836 Spinal Muscular Atrophy, John Griffin, and Mentorship Journal of the Peripheral Nervous System : JPNS. Dec, 2012 | Pubmed ID: 23279433 Histone Deacetylase Inhibition Suppresses Myogenin-dependent Atrogene Activation in Spinal Muscular Atrophy Mice Human Molecular Genetics. Oct, 2012 | Pubmed ID: 22798624 Survival Motor Neuron Protein in Motor Neurons Determines Synaptic Integrity in Spinal Muscular Atrophy The Journal of Neuroscience : the Official Journal of the Society for Neuroscience. Jun, 2012 | Pubmed ID: 22723710 Exome Sequencing Identifies a Novel TRPV4 Mutation in a CMT2C Family Neurology. Jul, 2012 | Pubmed ID: 22675077 Sciatic Nerve Tumor and Tumor-like Lesions - Uncommon Pathologies Skeletal Radiology. Jul, 2012 | Pubmed ID: 22410805 Progress and Promise: the Current Status of Spinal Muscular Atrophy Therapeutics Discovery Medicine. Oct, 2011 | Pubmed ID: 22031667 Increased IGF-1 in Muscle Modulates the Phenotype of Severe SMA Mice Human Molecular Genetics. May, 2011 | Pubmed ID: 21325354 Early Functional Impairment of Sensory-motor Connectivity in a Mouse Model of Spinal Muscular Atrophy Neuron. Feb, 2011 | Pubmed ID: 21315257 The Genetics of Spinal Muscular Atrophies Current Opinion in Neurology. Oct, 2010 | Pubmed ID: 20733483 Dominant Mutations in the Cation Channel Gene Transient Receptor Potential Vanilloid 4 Cause an Unusual Spectrum of Neuropathies Brain : a Journal of Neurology. Jun, 2010 | Pubmed ID: 20460441 Mutations in TRPV4 Cause Charcot-Marie-Tooth Disease Type 2C Nature Genetics. Feb, 2010 | Pubmed ID: 20037586 Overexpression of IGF-1 in Muscle Attenuates Disease in a Mouse Model of Spinal and Bulbar Muscular Atrophy Neuron. Aug, 2009 | Pubmed ID: 19679072 Inhibition of Myostatin Does Not Ameliorate Disease Features of Severe Spinal Muscular Atrophy Mice Human Molecular Genetics. Sep, 2009 | Pubmed ID: 19477958 Emerging Treatment Options for Spinal Muscular Atrophy Current Treatment Options in Neurology. Mar, 2009 | Pubmed ID: 19210911 Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice The Journal of Neuroscience : the Official Journal of the Society for Neuroscience. Jan, 2009 | Pubmed ID: 19158308 Regulation of SMN Protein Stability Molecular and Cellular Biology. Mar, 2009 | Pubmed ID: 19103745 Sustained Improvement of Spinal Muscular Atrophy Mice Treated with Trichostatin A Plus Nutrition Annals of Neurology. Oct, 2008 | Pubmed ID: 18661558 Lack of Spartin Protein in Troyer Syndrome: a Loss-of-function Disease Mechanism? Archives of Neurology. Apr, 2008 | Pubmed ID: 18413476 Targeting Splicing in Spinal Muscular Atrophy Annals of Neurology. Jan, 2008 | Pubmed ID: 18232015 Molecular Mechanisms of Spinal Muscular Atrophy Journal of Child Neurology. Aug, 2007 | Pubmed ID: 17761653 Safety, Tolerability, and Pharmacokinetics of High-dose Idebenone in Patients with Friedreich Ataxia Archives of Neurology. Jun, 2007 | Pubmed ID: 17562928 Trichostatin A Increases SMN Expression and Survival in a Mouse Model of Spinal Muscular Atrophy The Journal of Clinical Investigation. Mar, 2007 | Pubmed ID: 17318264 Therapeutics Development for Spinal Muscular Atrophy NeuroRx : the Journal of the American Society for Experimental NeuroTherapeutics. Apr, 2006 | Pubmed ID: 16554261 A Motor Neuron Disease-associated Mutation in P150Glued Perturbs Dynactin Function and Induces Protein Aggregation The Journal of Cell Biology. Feb, 2006 | Pubmed ID: 16505168 A Novel Cell Immunoassay to Measure Survival of Motor Neurons Protein in Blood Cells BMC Neurology. 2006 | Pubmed ID: 16451734 Distal Spinal and Bulbar Muscular Atrophy Caused by Dynactin Mutation Annals of Neurology. May, 2005 | Pubmed ID: 15852399 The Role of Histone Acetylation in SMN Gene Expression Human Molecular Genetics. May, 2005 | Pubmed ID: 15772088 Indoprofen Upregulates the Survival Motor Neuron Protein Through a Cyclooxygenase-independent Mechanism Chemistry & Biology. Nov, 2004 | Pubmed ID: 15555999 Valproic Acid Increases SMN Levels in Spinal Muscular Atrophy Patient Cells Annals of Neurology. Nov, 2003 | Pubmed ID: 14595654 Recurrent Myelopathy After HAART in a Patient with Spinal Mycobacterial Infection Neurology. Jul, 2003 | Pubmed ID: 12847179 Jaw Drop in Kennedy's Disease Neurology. Nov, 2002 | Pubmed ID: 12427914 Should Thrombolysis Be Contraindicated in Patients with Cerebral Arteriovenous Malformations? Critical Care Medicine. Oct, 2002 | Pubmed ID: 12394968 Radyo-etiketli GTP Bağlanması vasıtasıyla G-protein ile birleşmiş Reseptör Sinyalizasyonunun Ölçümü Chirag Vasavda*1, Nicholas W. Zaccor*1, Paul C. Scherer1, Charlotte J. Sumner1,2, Solomon H. Snyder1,3,4 1The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, 2Department of Neurology and neurosurgery, Johns Hopkins University School of Medicine, 3Departments of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, 4Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine JoVE 55561 Biochemistry
Radyo-etiketli GTP Bağlanması vasıtasıyla G-protein ile birleşmiş Reseptör Sinyalizasyonunun Ölçümü Chirag Vasavda*1, Nicholas W. Zaccor*1, Paul C. Scherer1, Charlotte J. Sumner1,2, Solomon H. Snyder1,3,4 1The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, 2Department of Neurology and neurosurgery, Johns Hopkins University School of Medicine, 3Departments of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, 4Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine JoVE 55561 Biochemistry
