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
Proteins Medicine & Life Sciences
Motor Neuron Disease Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences

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Research Output 1996 2019

Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment

Ramos, D. M., d’Ydewalle, C., Gabbeta, V., Dakka, A., Klein, S. K., Norris, D. A., Matson, J., Taylor, S. J., Zaworski, P. G., Prior, T. W., Snyder, P. J., Valdivia, D., Hatem, C. L., Waters, I., Gupte, N., Swoboda, K. J., Rigo, F., Frank Bennett, C., Naryshkin, N., Paushkin, S. & 2 others, Crawford, T. O. & Sumner, C. J., Nov 1 2019, In : Journal of Clinical Investigation. 129, 11, p. 4817-4831 15 p.

Research output: Contribution to journalArticle

Spinal Muscular Atrophy
Motor Neurons
Tissue Survival
Spinal Cord

Dominant collagen XII mutations cause a distal myopathy

Mohassel, P., Liewluck, T., Hu, Y., Ezzo, D., Ogata, T., Saade, D., Neuhaus, S., Bolduc, V., Zou, Y., Donkervoort, S., Medne, L., Sumner, C., Dyck, P. J. B., Wierenga, K. J., Tennekoon, G., Finkel, R. S., Chen, J., Winder, T. L., Staff, N. P., Foley, A. R. & 2 others, Koch, M. & Bönnemann, C. G., Jan 1 2019, (Accepted/In press) In : Annals of Clinical and Translational Neurology.

Research output: Contribution to journalArticle

Open Access
Distal Myopathies
Muscular Diseases
Small Interfering RNA

Equity and diversity in academic medicine: A perspective from the JCI editors

Smith Resar, L. M., Jaffee, E., Armanios, M., Jackson, S., Azad, N., Horton, M., Kaplan, M. J., Laiho, M., Maus, M. V., Sumner, C., Wheelan, S. & Wills-Karp, M., Oct 1 2019, In : Journal of Clinical Investigation. 129, 10

Research output: Contribution to journalComment/debate

Open Access

Genetic approaches to the treatment of inherited neuromuscular diseases

Ravi, B., Antonellis, A., Sumner, C. J. & Lieberman, A. P., Oct 1 2019, In : Human molecular genetics. 28, R1, p. R55-R64

Research output: Contribution to journalReview article

Neuromuscular Diseases
Atrophic Muscular Disorders
Charcot-Marie-Tooth Disease
Gene Expression
Spinal Muscular Atrophy

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