Projects per year
Personal profile
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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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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Mechanisms and Treatment of Cardiac and Skeletal Muscular Dysfunction in Barth Syndrome
5/5/21 → 4/30/24
Project: Research project
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Development of HITI CRISPR gene therapy for dilated cardiomyopathy in a canine model
2/1/21 → 8/31/22
Project: Research project
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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 -
A review of the underlying genetics and emerging therapies for canine cardiomyopathies
Shen, L., Estrada, A. H., Meurs, K. M., Sleeper, M., Vulpe, C., Martyniuk, C. J. & Pacak, C. A., Apr 2022, In: Journal of Veterinary Cardiology. 40, p. 2-14 13 p.Research output: Contribution to journal › Review article › peer-review
1 Scopus citations -
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy
Bruels, C. C., Littel, H. R., Daugherty, A. L., Stafki, S., Estrella, E. A., McGaughy, E. S., Truong, D., Badalamenti, J. P., Pais, L., Ganesh, V. S., O'Donnell-Luria, A., Stalker, H. J., Wang, Y., Collins, C., Behlmann, A., Lemmers, R. J. L. F., van der Maarel, S. M., Laine, R., Ghosh, P. S., Darras, B. T., & 4 others , Aug 2022, In: Annals of Clinical and Translational Neurology. 9, 8, p. 1302-1309 8 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Matrix produced by diseased cardiac fibroblasts affects early myotube formation and function
Piñeiro-Llanes, J., Suzuki-Hatano, S., Jain, A., Pérez Medina, V. A., Cade, W. T., Pacak, C. A. & Simmons, C. S., Oct 15 2022, In: Acta Biomaterialia. 152, p. 100-112 13 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations