Charlotte Sumner


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Fingerprint Dive into the research topics where Charlotte Sumner is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Spinal Muscular Atrophy Medicine & Life Sciences
Motor Neurons Medicine & Life Sciences
Mutation Medicine & Life Sciences
Charcot-Marie-Tooth Disease Medicine & Life Sciences
Motor Neuron Disease Medicine & Life Sciences
Proteins Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences

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Research Output 1996 2019

Modifier gene candidates in charcot-marie-tooth disease type 1A: A case-only genome-wide association study

Tao, F., Beecham, G. W., Rebelo, A. P., Blanton, S. H., Moran, J. J., Lopez-Anido, C., Svaren, J., Abreu, L., Rizzo, D., Kirk, C. A., Wu, X., Feely, S., Verhamme, C., Saporta, M. A., Herrmann, D. N., Day, J. W., Sumner, C., Lloyd, T., Li, J., Yum, S. W. & 8 others, Taroni, F., Baas, F., Choi, B. O., Pareyson, D., Scherer, S. S., Reilly, M. M., Shy, M. E. & Züchner, S., Jan 1 2019, In : Journal of neuromuscular diseases. 6, 2, p. 201-211 11 p.

Research output: Contribution to journalArticle

Modifier Genes
Charcot-Marie-Tooth Disease
Genome-Wide Association Study
Single Nucleotide Polymorphism
Odds Ratio

Neurofilament as a potential biomarker for spinal muscular atrophy

Darras, B. T., Crawford, T. O., Finkel, R. S., Mercuri, E., De Vivo, D. C., Oskoui, M., Tizzano, E. F., Ryan, M. M., Muntoni, F., Zhao, G., Staropoli, J., McCampbell, A., Petrillo, M., Stebbins, C., Fradette, S., Farwell, W. & Sumner, C., May 1 2019, In : Annals of Clinical and Translational Neurology. 6, 5, p. 932-944 13 p.

Research output: Contribution to journalArticle

Open Access
Spinal Muscular Atrophy
Intermediate Filaments
Spinal Muscular Atrophies of Childhood
Age of Onset

Variation in SIPA1L2 is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A

for the Inherited Neuropathy Consortium, Mar 1 2019, In : Annals of neurology. 85, 3, p. 316-330 15 p.

Research output: Contribution to journalArticle

Charcot-Marie-Tooth Disease
Rare Diseases
SOXE Transcription Factors

Two breakthrough gene-targeted treatments for spinal muscular atrophy: Challenges remain

Sumner, C. & Crawford, T. O., Aug 1 2018, In : Journal of Clinical Investigation. 128, 8, p. 3219-3227 9 p.

Research output: Contribution to journalReview article

Spinal Muscular Atrophy
Motor Neurons
Motor Neuron Disease
RNA Precursors

Adult intestinal colonization botulism mimicking brain death

Freund, B., Hayes, L., Rivera Lara, L., Sumner, C., Chaudhry, V., Chatham-Stephens, K., Benedict, K., Kalb, S., Blythe, D., Brooks, R. & Probasco, J. C., 2017, (Accepted/In press) In : Muscle and Nerve.

Research output: Contribution to journalArticle

Brain Death