Projects per year
Personal profile
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
- 6 Active
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Foundations for a Phase 1 clinical trial of cell-based therapy for Duchenne muscular dystrophy
Kang, P. B., Karachunski, P. I., Perlingeiro, R. & Wagner, J. E.
NIH NIAMS NATL INST OF ARTHRIT
7/15/22 → 6/30/24
Project: Research project
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GRASP LGMD Defining Clinical Endpoints in LGMD Subtype 2E, 2D, 2F and 2C
Virginia Commonwealth University
10/30/21 → 10/29/23
Project: Research project
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Defining Endpoints in Becker Muscular Dystrophy
Virginia Commonwealth University
9/23/21 → 9/22/24
Project: Research project
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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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Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource
Koch, R. L., Soler-Alfonso, C., Kiely, B. T., Asai, A., Smith, A. L., Bali, D. S., Kang, P. B., Landstrom, A. P., Akman, H. O., Burrow, T. A., Orthmann-Murphy, J. L., Goldman, D. S., Pendyal, S., El-Gharbawy, A. H., Austin, S. L., Case, L. E., Schiffmann, R., Hirano, M. & Kishnani, P. S., Mar 2023, In: Molecular Genetics and Metabolism. 138, 3, 107525.Research output: Contribution to journal › Review article › peer-review
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Peripheral neuropathies associated with DNA repair disorders
Maguina, M., Kang, P. B., Tsai, A. C. & Pacak, C. A., Feb 2023, In: Muscle and Nerve. 67, 2, p. 101-110 10 p.Research output: Contribution to journal › Review article › peer-review
Open Access2 Scopus citations -
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome
Stafki, S. A., Turner, J., Littel, H. R., Bruels, C. C., Truong, D., Knirsch, U., Stettner, G. M., Graf, U., Berger, W., Kinali, M., Jungbluth, H., Pacak, C. A., Hughes, J., Mirchi, A., Derksen, A., Vincent-Delorme, C., Theil, A. F., Bernard, G., Ellis, D., Fassihi, H., & 4 others, Apr 2023, In: Pediatric Neurology. 141, p. 79-86 8 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
Nascimento, A., Bruels, C. C., Donkervoort, S., Foley, A. R., Codina, A., Milisenda, J. C., Estrella, E. A., Li, C., Pijuan, J., Draper, I., Hu, Y., Stafki, S. A., Pais, L. S., Ganesh, V. S., O’Donnell-Luria, A., Syeda, S. B., Carrera-García, L., Expósito-Escudero, J., Yubero, D., Martorell, L., & 14 others, Apr 2023, In: Acta Neuropathologica. 145, 4, p. 479-496 18 p.Research output: Contribution to journal › Article › peer-review
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Can We Generalize Key Principles in the Care of Rare Diseases? The Case for Adrenoleukodystrophy
Carlson, M. D. & Kang, P. B., Nov 22 2022, In: Neurology. 99, 21, p. 929-930 2 p.Research output: Contribution to journal › Editorial › peer-review