Associate Professor of Neurology, Johns Hopkins University School of Medicine

Neurology

Dr. Charlotte J. Sumner works in the field of Neurology. She researched medicine at Perelman School of Medicine at the University of Pennsylvania. She received 1 awards: "CMS Meaningful Use Stage 1 Certification". Charlotte Sumner is also published. She has 40 publications published. The lastest publication: "Expression of multiple classes of the nuclear factor-1 family in the developing human brain: differential expression of two classes of NF-1 genes.' She accepts all Medicare patients.

Publications

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• Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
• Spinal Muscular Atrophy Therapeutics: Where do we Stand?
• Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics.
• SMN Is Essential for the Biogenesis of U7 Small Nuclear Ribonucleoprotein and 3'-End Formation of Histone mRNAs.
• A Dominant Mutation in FBXO38 Causes Distal Spinal Muscular Atrophy with Calf Predominance.
• Spinal Muscular atrophy, John Griffin, and mentorship.
• Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal Muscular atrophy mice.
• Progress and promise: the current status of spinal Muscular atrophy therapeutics.
• Early functional impairment of sensory-motor connectivity in a mouse model of spinal Muscular atrophy.
• Mutations in TRPV4 cause Charcot-Marie-Tooth Disease type 2C.
• Overexpression of IGF-1 in muscle attenuates Disease in a mouse model of spinal and bulbar muscular atrophy.
• Regulation of SMN protein stability.
• Emerging treatment options for spinal Muscular atrophy.
• Impaired synaptic vesicle release and immaturity of neuroMuscular junctions in spinal Muscular atrophy mice.
• Sustained improvement of spinal Muscular atrophy mice treated with trichostatin A plus nutrition.
• Lack of spartin protein in Troyer syndrome: a loss-of-function Disease mechanism?
• Targeting splicing in spinal Muscular atrophy.
• Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich Ataxia.
• Trichostatin A increases SMN expression and survival in a mouse model of spinal Muscular atrophy.
• Therapeutics development for spinal Muscular atrophy.
• A motor neuron Disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation.
• Distal spinal and bulbar Muscular atrophy caused by dynactin mutation.
• Valproic acid increases SMN levels in spinal Muscular atrophy patient cells.
• Recurrent Myelopathy after HAART in a patient with spinal mycobacterial infection.
• Jaw drop in Kennedy's Disease.
• Should thrombolysis be contraindicated in patients with Cerebral arteriovenous malformations?
• Increased IGF-1 in muscle modulates the phenotype of severe SMA mice.
• A novel cell immunoassay to measure survival of motor neurons protein in blood cells.
• Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
• The genetics of spinal Muscular atrophies.
• Inhibition of myostatin does not ameliorate Disease features of severe spinal muscular atrophy mice.
• Molecular mechanisms of spinal Muscular atrophy.
• Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism.
• The role of histone acetylation in SMN gene expression.
• SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials.
• The spectrum of Neuropathy in diabetes and impaired glucose tolerance.
• Adult botulism type F in the United States, 1981-2002.
• Expression of multiple classes of the nuclear factor-1 family in the developing human Brain: differential expression of two classes of NF-1 genes.
• Improvement of NeuroMuscular Synaptic Phenotypes without Enhanced Survival and Motor Function in Severe Spinal Muscular Atrophy Mice Selectively Rescued in Motor Neurons.

Schools

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• Perelman School of Medicine University of Pennsylvania

Procedures Preformed

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• EMG (Electromyography)

Conditions Treated

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• Alzheimer's Disease
• Anterior Horn Disease
• Ataxia
• Brachial Plexus Palsy
• View All

Doctors Specialties

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• Neurology

Accepted Insurances

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Awards

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• CMS Meaningful Use Stage 1 Certification

Education

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• UCSF
• Perelman School of Medicine at the University of Pennsylvania

Hospital

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• Johns Hopkins Hospital
• Johns Hopkins Bayview Medical Center

Drug Facts

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NPI NUMBER		1811022155
NPPES Provider LastName		SUMNER
NPPES Provider FirstName		CHARLOTTE
NPPES Provider ZIPCode		212870005
NPPES Provider State		MD
Specialty Description		Neurology
Total Claim Count		34.0
Distinct Opioid Count		0.0
Opioid Claim Count		0.0
Percent Opioid Claims		0.0

Helpful Reviews

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Medicare Facts

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National Provider Identifier [NPI]	1811022155
Last Name Of The Provider	SUMNER
First Name Of The Provider	CHARLOTTE
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