1993 …2020
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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.

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Projects 2006 2020

Glycogen Storage Disease Type II
Enzyme Replacement Therapy
Prospective Studies
Late Onset Disorders

Muscular Dystrophy Center Lab Day

Karachunski, P. I.

Biogen IDEC


Project: Research project

Duchenne Muscular Dystrophy
Nonsense Codon
Glycogen Storage Disease Type II
Late Onset Disorders
human GAA protein

Research Output 1993 2018

1 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 othersChen, Y. W., Apr 10 2018, In : Neurology. 90, 15, p. e1333-e1338

Research output: Contribution to journalArticle

Facioscapulohumeral Muscular Dystrophy
Age of Onset
Linear Models
Disease Progression

The diagnostic approach to the hypotonic and weak infant

Karachunski, P. I., Jan 1 2018, Clinical Handbook of Neuromuscular Medicine. Springer International Publishing, p. 113-132 20 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Spinal Muscular Atrophy
Myotonia Congenita
Muscle Hypotonia
Muscular Dystrophies
Genetic Testing

Xanthine oxidase is hyper-active in Duchenne muscular dystrophy

Lindsay, A., McCourt, P. M., Karachunski, P. I., Lowe, D. A. & Ervasti, J. M., Dec 1 2018, In : Free Radical Biology and Medicine. 129, p. 364-371 8 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Xanthine Oxidase
Inbred mdx Mouse
35 Citations

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Clinical Evaluator Training Group, Sep 23 2017, In : The Lancet. 390, 10101, p. 1489-1498 10 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Nonsense Codon
Factor IX
3 Citations

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

Slavotinek, A., Risolino, M., Losa, M., Cho, M. T., Monaghan, K. G., Schneidman-Duhovny, D., Parisotto, S., Herkert, J. C., Stegmann, A. P. A., Miller, K., Shur, N., Chui, J., Muller, E., DeBrosse, S., Szot, J. O., Chapman, G., Pachter, N. S., Winlaw, D. S., Mendelsohn, B. A., Dalton, J. & 7 othersSarafoglou, K., Karachunski, P. I., Lewis, J. M., Pedro, H., Dunwoodie, S. L., Selleri, L. & Shieh, J., Dec 1 2017, In : Human molecular genetics. 26, 24, p. 4849-4860 12 p.

Research output: Contribution to journalArticle

Homeodomain Proteins
Intellectual Disability
Branchial Region
Amino Acids