Projects per year
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Research interests
Muscular dystrophy, genomics, genetics, Notch pathway, translational neuroscience
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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Projects
- 2 Active
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Optimized Production and Validation of Rationally Designed AAV Vectors for Cockayne Syndrome Gene Therapy
Aslanidi, G., Kang, P. B. & Pacak, C. A.
DHHS FOOD & DRUG ADMINISTRATION (FDA)
9/1/21 → 8/31/24
Project: Research project
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Surveillance of muscular dystrophy in the Southeastern United States
1/31/21 → 8/31/22
Project: Research project
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Clinical, electrophysiological, and imaging findings in childhood brachial plexus injury
Portwood, K. E., Albayram, M. S., Stone, S., Zingariello, C. D., Sladky, J. T., Chim, H. & Kang, P. B., May 7 2022, In: Developmental Medicine & Child Neurology.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Novel biallelic variants expand the SLC5A6-related phenotypic spectrum
Holling, T., Nampoothiri, S., Tarhan, B., Schneeberger, P. E., Vinayan, K. P., Yesodharan, D., Roy, A. G., Radhakrishnan, P., Alawi, M., Rhodes, L., Girisha, K. M., Kang, P. B. & Kutsche, K., Apr 2022, In: European Journal of Human Genetics. 30, 4, p. 439-449 11 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Patient reported quality of life in limb girdle muscular dystrophy
Kovalchick, L. V., Bates, K., Statland, J., Weihl, C., Kang, P. B., Lowes, L. P., Mozaffar, T., Straub, V., Wicklund, M., Heatwole, C. & Johnson, N. E., Jan 2022, In: Neuromuscular Disorders. 32, 1, p. 57-64 8 p.Research output: Contribution to journal › Article › peer-review
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A form of muscular dystrophy associated with pathogenic variants in JAG2
Coppens, S., Barnard, A. M., Puusepp, S., Pajusalu, S., Õunap, K., Vargas-Franco, D., Bruels, C. C., Donkervoort, S., Pais, L., Chao, K. R., Goodrich, J. K., England, E. M., Weisburd, B., Ganesh, V. S., Gudmundsson, S., O'Donnell-Luria, A., Nigul, M., Ilves, P., Mohassel, P., Siddique, T. & 38 others, , May 6 2021, In: American Journal of Human Genetics. 108, 5, p. 840-856 17 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
An Opportune Time for Newborn Screening in Duchenne Muscular Dystrophy
Chrzanowski, S. M., McAnally, M. M. & Kang, P. B., Aug 1 2021, In: JAMA Neurology. 78, 8, p. 901-902 2 p.Research output: Contribution to journal › Comment/debate › peer-review
3 Scopus citations