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Expertise related to UN SDGs
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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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.
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Projects
Research output
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Nusinersen injections in adults and children with spinal muscular atrophy: A single-center experience
Özütemiz, C., Karachunski, P. I. & Nascene, D. R., 2020, In: Diagnostic and Interventional Radiology. 26, 6, p. 596-602 7 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy
Wagner, K. R., Abdel-Hamid, H. Z., Mah, J. K., Campbell, C., Guglieri, M., Muntoni, F., Takeshima, Y., McDonald, C. M., Kostera-Pruszczyk, A., Karachunski, P., Butterfield, R. J., Mercuri, E., Fiorillo, C., Bertini, E. S., Tian, C., Statland, J., Sadosky, A. B., Purohit, V. S., Sherlock, S. P., Palmer, J. P. & 4 others, , Jun 2020, In: Neuromuscular Disorders. 30, 6, p. 492-502 11 p.Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy
CINRG Investigators, 2020, (Accepted/In press) In: European Journal of Human Genetics.Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations -
Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy
AlMuhaizea, M., AlMass, R., AlHargan, A., AlBader, A., Medico Salsench, E., Howaidi, J., Ihinger, J., Karachunski, P., Begtrup, A., Segura Castell, M., Bauer, P., Bertoli-Avella, A., Kaya, I. H., AlSufayan, J., AlQuait, L., Chedrawi, A., Arold, S. T., Colak, D., Barakat, T. S. & Kaya, N., Apr 1 2020, In: Acta Neuropathologica. 139, 4, p. 791-794 4 p.Research output: Contribution to journal › Article › peer-review
4 Scopus citations -
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, , Aug 1 2019, In: Genetics in Medicine. 21, 8, p. 1899 1 p.Research output: Contribution to journal › Comment/debate › peer-review