Peter I Karachunski

1993 …2023

Research output per year

If you made any changes in Pure these will be visible here soon.

Fingerprint The Fingerprint is created by mining the titles and abstracts of the person's research outputs and projects/funding awards to create an index of weighted terms from discipline-specific thesauri.

  • 1 Similar Profiles

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Projects

Research Output

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants (Genetics in Medicine, (2019), 21, 3, (601-607), 10.1038/s41436-018-0137-y)

Dines, J. N., Golden-Grant, K., LaCroix, A., Muir, A. M., Cintrón, D. L., McWalter, K., Cho, M. T., Sun, A., Merritt, J. L., Thies, J., Niyazov, D., Burton, B., Kim, K., Fleming, L., Westman, R., Karachunski, P. I., Dalton, J., Basinger, A., Ficicioglu, C., Helbig, I. & 12 others, Pendziwiat, M., Muhle, H., Helbig, K. L., Caliebe, A., Santer, R., Becker, K., Suchy, S., Douglas, G., Millan, F., Begtrup, A., Monaghan, K. G. & Mefford, H. C., Aug 1 2019, In : Genetics in Medicine. 21, 8, 1 p.

Research output: Contribution to journalComment/debate

  • MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

    Care4Rare Canada Consortium, Dec 1 2019, In : Acta Neuropathologica. 138, 6, p. 1013-1031 19 p.

    Research output: Contribution to journalArticle

    Open Access
  • TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

    Dines, J. N., Golden-Grant, K., LaCroix, A., Muir, A. M., Cintrón, D. L., McWalter, K., Cho, M. T., Sun, A., Merritt, J. L., Thies, J., Niyazov, D., Burton, B., Kim, K., Fleming, L., Westman, R., Karachunski, P. I., Dalton, J., Basinger, A., Ficicioglu, C., Helbig, I. & 12 others, Pendziwiat, M., Muhle, H., Helbig, K. L., Caliebe, A., Santer, R., Becker, K., Suchy, S., Douglas, G., Millan, F., Begtrup, A., Monaghan, K. G. & Mefford, H. C., Mar 1 2019, In : Genetics in Medicine. 21, 3, p. 601-607 7 p.

    Research output: Contribution to journalArticle

  • 4 Scopus citations

    Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy

    the Duchenne Muscular Dystrophy Regulatory Science Consortium (D-RSC), Oct 1 2019, In : Journal of Pharmacokinetics and Pharmacodynamics. 46, 5, p. 441-455 15 p.

    Research output: Contribution to journalArticle

  • 1 Scopus citations

    A multinational study on motor function in early-onset FSHD

    Mah, J. K., Feng, J., Jacobs, M. B., Duong, T., Carroll, K., De Valle, K., Carty, C. L., Morgenroth, L. P., Guglieri, M., Ryan, M. M., Clemens, P. R., Thangarajh, M., Webster, R., Smith, E., Connolly, A. M., McDonald, C. M., Karachunski, P., Tulinius, M., Harper, A., Cnaan, A. & 1 others, Chen, Y. W., Apr 10 2018, In : Neurology. 90, 15, p. e1333-e1338

    Research output: Contribution to journalArticle

    Open Access
  • 4 Scopus citations