Charlotte Sumner
#21,957
Most Influential Person Now
American neurologist
Charlotte Sumner's AcademicInfluence.com Rankings
Charlotte Sumnermedical Degrees
Medical
#199
World Rank
#298
Historical Rank
#92
USA Rank
Neurology
#332
World Rank
#427
Historical Rank
#59
USA Rank
Download Badge
Medical
Charlotte Sumner's Degrees
- Doctorate Medicine Harvard University
Why Is Charlotte Sumner Influential?
(Suggest an Edit or Addition)According to Wikipedia, Charlotte Jane Sumner is an American neurologist. She is a professor in the Departments of Neurology and Neuroscience at Johns Hopkins School of Medicine. Dr. Sumner cares for patients with genetically mediated neuromuscular diseases and directs a laboratory focused on developing treatments for these diseases. She co-directs the Johns Hopkins Muscular Dystrophy Association Care Center, the Spinal Muscular Atrophy , and the Charcot-Marie-Tooth clinics, which deliver multidisciplinary clinical care, engage in international natural history studies, and provide cutting edge therapeutics.
Charlotte Sumner's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- The spectrum of neuropathy in diabetes and impaired glucose tolerance (2003) (682)
- Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice (2009) (370)
- Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. (2007) (333)
- Early Functional Impairment of Sensory-Motor Connectivity in a Mouse Model of Spinal Muscular Atrophy (2011) (312)
- Valproic acid increases SMN levels in spinal muscular atrophy patient cells (2003) (308)
- Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C (2010) (284)
- Regulation of SMN Protein Stability (2008) (263)
- CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis (2014) (218)
- Overexpression of IGF-1 in Muscle Attenuates Disease in a Mouse Model of Spinal and Bulbar Muscular Atrophy (2009) (216)
- Distal spinal and bulbar muscular atrophy caused by dynactin mutation (2005) (199)
- A motor neuron disease–associated mutation in p150Glued perturbs dynactin function and induces protein aggregation (2006) (176)
- Survival Motor Neuron Protein in Motor Neurons Determines Synaptic Integrity in Spinal Muscular Atrophy (2012) (162)
- The role of histone acetylation in SMN gene expression. (2005) (156)
- Sustained improvement of spinal muscular atrophy mice treated with trichostatin a plus nutrition (2008) (155)
- Spinal muscular atrophy (2011) (155)
- Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism. (2004) (136)
- Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. (2010) (125)
- Increased IGF-1 in muscle modulates the phenotype of severe SMA mice. (2011) (108)
- The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy (2017) (106)
- Neurofilament as a potential biomarker for spinal muscular atrophy (2019) (104)
- Astrocytes influence the severity of spinal muscular atrophy. (2015) (95)
- Molecular Mechanisms of Spinal Muscular Atrophy (2007) (85)
- Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice. (2009) (83)
- Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment. (2019) (80)
- Therapeutics development for spinal muscular atrophy (2006) (78)
- SMN mRNA and protein levels in peripheral blood (2006) (78)
- Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia. (2007) (78)
- SMN is essential for the biogenesis of U7 small nuclear ribonucleoprotein and 3'-end formation of histone mRNAs. (2013) (76)
- Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy (2017) (72)
- Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. (2015) (68)
- Adult botulism type F in the United States, 1981–2002 (2005) (65)
- Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics. (2014) (64)
- Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice. (2012) (62)
- Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (2020) (62)
- The DcpS inhibitor RG3039 improves motor function in SMA mice. (2013) (61)
- A TRPV Channel in Drosophila Motor Neurons Regulates Presynaptic Resting Ca2+ Levels, Synapse Growth, and Synaptic Transmission (2014) (60)
- Two breakthrough gene-targeted treatments for spinal muscular atrophy: challenges remain. (2018) (60)
- Spinal Muscular Atrophy Therapeutics: Where do we Stand? (2015) (53)
- Improvement of Neuromuscular Synaptic Phenotypes without Enhanced Survival and Motor Function in Severe Spinal Muscular Atrophy Mice Selectively Rescued in Motor Neurons (2013) (52)
- Expression of multiple classes of the nuclear factor-1 family in the developing human brain: differential expression of two classes of NF-1 genes. (1996) (51)
- Sciatic nerve tumor and tumor-like lesions—uncommon pathologies (2012) (48)
- Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism? (2008) (44)
- A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. (2013) (43)
- The genetics of spinal muscular atrophies. (2010) (42)
- Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA (2021) (38)
- TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca2+ (2020) (35)
- Progress and promise: the current status of spinal muscular atrophy therapeutics. (2011) (34)
- Whole‐body MR neurography: Prospective feasibility study in polyneuropathy and Charcot‐Marie‐Tooth disease (2016) (34)
- A novel cell immunoassay to measure survival of motor neurons protein in blood cells (2006) (34)
- Spinal Muscular Atrophy: Disease Mechanisms and Therapy (2016) (33)
- Non-Aggregating Tau Phosphorylation by Cyclin-Dependent Kinase 5 Contributes to Motor Neuron Degeneration in Spinal Muscular Atrophy (2015) (32)
- Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family (2012) (31)
- Emerging treatment options for spinal muscular atrophy (2009) (31)
- TRPV1 is a physiological regulator of μ-opioid receptors (2017) (29)
- Variation in SIPA1L2 is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A (2019) (24)
- A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores (2020) (22)
- Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study (2020) (20)
- Genetic approaches to the treatment of inherited neuromuscular diseases. (2019) (18)
- Dominant collagen XII mutations cause a distal myopathy (2019) (18)
- Gene-Targeting Therapeutics for Neurological Disease: Lessons Learned from Spinal Muscular Atrophy. (2021) (17)
- Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy (2015) (17)
- Assessing non-Mendelian Inheritance in Inherited Axonopathies (2020) (16)
- Jaw drop in Kennedy’s disease (2002) (16)
- Neuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension (2021) (14)
- Developmental Aspects and Pathological Findings in Spinal Muscular Atrophy (2017) (14)
- Should thrombolysis be contraindicated in patients with cerebral arteriovenous malformations? (2002) (13)
- Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy. (2020) (12)
- TRPV4-Associated Disorders (2014) (11)
- Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study (2019) (10)
- Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy (2014) (10)
- Measuring G-protein-coupled Receptor Signaling via Radio-labeled GTP Binding. (2017) (10)
- Adult intestinal colonization botulism mimicking brain death (2017) (9)
- The nonselective cation channel TRPV4 inhibits angiotensin II receptors (2020) (8)
- Motor neuron loss in SMA is not associated with somal stress-activated JNK/c-Jun signaling. (2019) (8)
- Genetics and genomic medicine in Mali: challenges and future perspectives (2016) (7)
- Recurrent myelopathy after HAART in a patient with spinal mycobacterial infection (2003) (6)
- TRPV4 Antagonism Prevents Mechanically Induced Myotonia (2020) (6)
- The Therapeutic Effects of RG3039 in Severe Spinal Muscular Atrophy Mice and Normal Human Volunteers (SC01.002) (2012) (5)
- SMA THERAPIES II AND BIOMARKERS P.262Phosphorylated neurofilament heavy chain (pNF-H) levels in infants and children with SMA: evaluation of pNF-H as a potential biomarker of SMA disease activity (2018) (4)
- Multiubiquitination of TRPV4 reduces channel activity independent of surface localization (2022) (4)
- Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases (2021) (4)
- Equity and diversity in academic medicine: a perspective from the JCI editors. (2019) (4)
- TRPV4: A trigger of pathological RhoA activation in neurological disease (2022) (4)
- PHENOTYPE-GENOTYPE CHARACTERISTICS AND BASELINE NATURAL HISTORY OF HERITABLE NEUROPATHIES CAUSED BY MUTATIONS IN THE MYELIN PROTEIN ZERO GENE (2015) (4)
- Assuring long-term safety of highly effective gene-modulating therapeutics for rare diseases. (2021) (4)
- Targeting splicing in spinal muscular atrophy (2008) (3)
- in p150 Glued perturbs dynactin function and induces protein aggregation (2006) (3)
- The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases (2020) (3)
- Premature delivery in the domestic sow in response to in utero delivery of AAV9 to fetal piglets (2021) (3)
- TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function (2022) (3)
- P.270Association between plasma phosphorylated neurofilament heavy chain and efficacy endpoints in the nusinersen NURTURE study (2019) (2)
- NEW GENES, FUNCTIONS AND BIOMARKERS O.5Association of phosphorylated neurofilament heavy chain (pNF-H) with nusinersen treatment of SMA: analyses from the ENDEAR and CHERISH studies (2018) (2)
- Phosphorylated neurofilament heavy chain (PNF-H) and motor function achievement in nusinersen-treated individuals with spinal muscular atrophy (SMA) (2019) (2)
- 264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th – 21st 2021 (2022) (2)
- Early treatment is a lifeline for infants with SMA (2022) (2)
- Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (2020) (2)
- 44 – Spinal Muscular Atrophy (2007) (2)
- Behavioral Phenotyping for neonates: Righting reflex (2014) (2)
- Motor unit gains in treated spinal muscular atrophy patients (2020) (1)
- Crosstalk between regulatory elements in the disordered TRPV4 N-terminus modulates lipid-dependent channel activity (2022) (1)
- Astrocytes in fl uence the severity of spinal muscular atrophy (2015) (1)
- SMN is essential for the biogenesis of U7 snRNP and 3 ′ -end formation of histone mRNAs (2014) (1)
- Hereditary Channelopathies Caused by TRPV4 Mutations (2014) (1)
- A TRPV Channel in Drosophila Motor Neurons Regulates Presynaptic Resting Ca 2+ Levels, (2014) (1)
- Inflammatory neuropathies: Guillan-Barré syndrome (GBS) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) (2005) (1)
- SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES P.171 Baseline plasma phosphorylated neurofilament heavy chain level predicts sitting in nusinersen-treated individuals with infantile-onset SMA (2020) (0)
- Correction to: Peripheral Neuropathy: No Longer the Land of Therapeutic Nihilism (2022) (0)
- Spinal muscular atrophy (2019) (0)
- Chapter 17 Kennedy's Disease (2003) (0)
- The Androgen Receptor and Spinal and Bulbar Muscular Atrophy (2005) (0)
- Table 3. [Summary of Molecular Genetic Testing Used in TRPV4-Associated Neuromuscular and Skeletal Disorders]. (2014) (0)
- O.9Dominant Collagen XII-related myopathy with a distal myopathy phenotype, amenable to treatment with allele-specific knockdown (2019) (0)
- Update – Inherited Neuropathies Consortium (P05.144) (2012) (0)
- Peripheral Neuropathy: No Longer the Land of Therapeutic Nihilism (2021) (0)
- Examining the Microvasculature Following a Pregnancy Complicated by Preeclampsia (2018) (0)
- Dihydropyridine receptor ( DHPR ) congenital myopathy (2018) (0)
- Table 1. [Neurologic Findings by TRPV4-Associated Neuromuscular Phenotype]. (2014) (0)
- Demylinating Peripheral Neuropathy and Lymphoplasmacytic Lymphoma (2010) (0)
- Structural insights into TRPV4-Rho GTPase signaling complex function and disease (2023) (0)
- Spinal muscular atrophy. (2022) (0)
- Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study (2022) (0)
- Table 2. [Radiographic and Clinical Features of TRPV4-Associated Skeletal Dysplasias]. (2014) (0)
- Table 4. [Selected TRPV4 Allelic Variants]. (2014) (0)
- Dominant mutations of the Notch ligand Jagged1 (2020) (0)
- Prenatal Somatic Cell Gene Therapies: Charting a Path Toward Clinical Applications (Proceedings of the CERSI‐FDA Meeting) (2022) (0)
- Natural History of TRPV4-Associated Neuromuscular Disease (S7.009) (2023) (0)
- Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy (2022) (0)
- SMA THERAPIES II AND BIOMARKERS P.266Neurofilament as a potential biomarker for spinal muscular atrophy: rationale based on animal and human studies (2018) (0)
- Spinal muscular atrophy, John Griffin, and mentorship (2012) (0)
- Safety, tolerability, and pharmacokinetics of idebenone in a dose‐escalation trial in patients with Friedreich's ataxia (2005) (0)
- [Table, GeneReview Scope]. (2014) (0)
- SMN May Have Multiple Functions Necessitating Widespread Restoration for Maximal Therapeutic Benefit in SMA (2012) (0)
- Motor Unit Pathology in SMA Patients (P03.175) (2012) (0)
- Therapeutics development for spinal muscular atrophy (2006) (0)
- Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation (2023) (0)
- Spinal Muscular Atrophy Therapeutics: Where do we Stand? (2015) (0)
This paper list is powered by the following services:
Other Resources About Charlotte Sumner
What Schools Are Affiliated With Charlotte Sumner?
Charlotte Sumner is affiliated with the following schools:
