Peter I Karachunski

1993 …2023
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Intranasal Administration Medicine & Life Sciences
Muscles Medicine & Life Sciences
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Projects 2006 2023

Research Output 1993 2019

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

Medicine
Phenotype
3 Citations (Scopus)

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

Exome
Phenotype
Genotype
Rhabdomyolysis
Brain Diseases
3 Citations (Scopus)

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
Facioscapulohumeral Muscular Dystrophy
Age of Onset
Muscles
Linear Models
Disease Progression
7 Citations (Scopus)

Longitudinal pulmonary function testing outcome measures in Duchenne muscular dystrophy: Long-term natural history with and without glucocorticoids

CINRG investigators for PubMed, Nov 1 2018, In : Neuromuscular Disorders. 28, 11, p. 897-909 13 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Natural History
Glucocorticoids
Vital Capacity
Outcome Assessment (Health Care)
42 Citations (Scopus)

Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study

CINRG Investigators, Feb 3 2018, In : The Lancet. 391, 10119, p. 451-461 11 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Glucocorticoids
Cohort Studies
Quality of Life
Prospective Studies