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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Myasthenia Gravis Medicine & Life Sciences

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Projects 2006 2020

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

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
19 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
1 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 others Sarafoglou, 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
2 Citations
Bone and Bones
Lower Extremity
Duchenne Muscular Dystrophy
4 Citations

Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine

Foster, L. A., Johnson, M. R., MacDonald, J. T., Karachunski, P. I., Henry, T. R., Nascene, D. R., Moran, B. P. & Raymond, G. V. Jan 1 2017 In : Pediatric neurology. 66, p. 108-111 4 p.

Research output: Contribution to journalArticle

Brain Diseases