Charlotte J. Sumner

The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine

Affiliated withJohns Hopkins University School of Medicine

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 11	2017

Other Publications

Article	Year
Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism? Archives of neurology\| PubMed ID: 18413476	2008
Should thrombolysis be contraindicated in patients with cerebral arteriovenous malformations? Critical care medicine\| PubMed ID: 12394968	2002
Jaw drop in Kennedy's disease. Neurology\| PubMed ID: 12427914	2002
Recurrent myelopathy after HAART in a patient with spinal mycobacterial infection. Neurology\| PubMed ID: 12847179	2003
Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Annals of neurology\| PubMed ID: 14595654	2003
Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism. Chemistry & biology\| PubMed ID: 15555999	2004
The role of histone acetylation in SMN gene expression. Human molecular genetics\| PubMed ID: 15772088	2005
Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Annals of neurology\| PubMed ID: 15852399	2005
A novel cell immunoassay to measure survival of motor neurons protein in blood cells. BMC neurology\| PubMed ID: 16451734	2006
A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. The Journal of cell biology\| PubMed ID: 16505168	2006
Therapeutics development for spinal muscular atrophy. NeuroRx : the journal of the American Society for Experimental NeuroTherapeutics\| PubMed ID: 16554261	2006
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. The Journal of clinical investigation\| PubMed ID: 17318264	2007
Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia. Archives of neurology\| PubMed ID: 17562928	2007
Molecular mechanisms of spinal muscular atrophy. Journal of child neurology\| PubMed ID: 17761653	2007
Targeting splicing in spinal muscular atrophy. Annals of neurology\| PubMed ID: 18232015	2008
Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition. Annals of neurology\| PubMed ID: 18661558	2008
Regulation of SMN protein stability. Molecular and cellular biology\| PubMed ID: 19103745	2009
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\| PubMed ID: 19158308	2009
Emerging treatment options for spinal muscular atrophy. Current treatment options in neurology\| PubMed ID: 19210911	2009
Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice. Human molecular genetics\| PubMed ID: 19477958	2009
Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy. Neuron\| PubMed ID: 19679072	2009
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nature genetics\| PubMed ID: 20037586	2010
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain : a journal of neurology\| PubMed ID: 20460441	2010
The genetics of spinal muscular atrophies. Current opinion in neurology\| PubMed ID: 20733483	2010
Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy. Neuron\| PubMed ID: 21315257	2011
Increased IGF-1 in muscle modulates the phenotype of severe SMA mice. Human molecular genetics\| PubMed ID: 21325354	2011
Progress and promise: the current status of spinal muscular atrophy therapeutics. Discovery medicine\| PubMed ID: 22031667	2011
Sciatic nerve tumor and tumor-like lesions - uncommon pathologies. Skeletal radiology\| PubMed ID: 22410805	2012
Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family. Neurology\| PubMed ID: 22675077	2012
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\| PubMed ID: 22723710	2012
Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice. Human molecular genetics\| PubMed ID: 22798624	2012
Spinal muscular atrophy, John Griffin, and mentorship. Journal of the peripheral nervous system : JPNS\| PubMed ID: 23279433	2012
The DcpS inhibitor RG3039 improves motor function in SMA mice. Human molecular genetics\| PubMed ID: 23727836	2013
Improvement of neuromuscular synaptic phenotypes without enhanced survival and motor function in severe spinal muscular atrophy mice selectively rescued in motor neurons. PloS one\| PubMed ID: 24086650	2013
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. American journal of human genetics\| PubMed ID: 24207122	2013
SMN is essential for the biogenesis of U7 small nuclear ribonucleoprotein and 3'-end formation of histone mRNAs. Cell reports\| PubMed ID: 24332368	2013
Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics. Human molecular genetics\| PubMed ID: 24760765	2014
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy. Neurology\| PubMed ID: 25404646	2014
A TRPV channel in Drosophila motor neurons regulates presynaptic resting Ca2+ levels, synapse growth, and synaptic transmission. Neuron\| PubMed ID: 25451193	2014
Spinal Muscular Atrophy Therapeutics: Where do we Stand? Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics\| PubMed ID: 25631888	2015
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\| PubMed ID: 25878277	2015
Astrocytes influence the severity of spinal muscular atrophy. Human molecular genetics\| PubMed ID: 25911676	2015
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. Brain : a journal of neurology\| PubMed ID: 26310628	2015
Genetics and genomic medicine in Mali: challenges and future perspectives. Molecular genetics & genomic medicine\| PubMed ID: 27066513	2016
Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy. Neurology. Genetics\| PubMed ID: 27066566	2015
Whole-body MR neurography: Prospective feasibility study in polyneuropathy and Charcot-Marie-Tooth disease. Journal of magnetic resonance imaging : JMRI\| PubMed ID: 27126998	2016
The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy. Neuron\| PubMed ID: 28017471	2017