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Projects 2006 2020

Muscular Dystrophy Center Lab Day

Karachunski, P. I.

Biogen IDEC

2/8/1812/31/18

Project: Research project

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

Research Output 1993 2017

10 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
Placebos
Dystrophin
Factor IX
1 Citations
Vibration
Bone and Bones
Muscles
Lower Extremity
Duchenne Muscular Dystrophy
2 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

Mexiletine
Brain Diseases
Seizures
Lidocaine
Mutation
2 Citations

Interleukin 1 Receptor-Like 1 Protein (ST2) is a Potential Biomarker for Cardiomyopathy in Duchenne Muscular Dystrophy

Anderson, J. , Seol, H. , Gordish-Dressman, H. , Hathout, Y. , Spurney, C. F. , McDonald, C. , Abresch, R. T. , Henricson, E. , Cregan, M. , Goude, E. , Johnson, L. , Han, J. , Joyce, N. , Reedy, D. , Viswanathan, V. , Chidambaranathan, C. , Kumar, S. , Lakshmi, V. , Reddappa, P. , Biggar, D. & 31 others McAdam, L., Dermody, M., Eliasoph, L., Harris, V., Lee, G., Mah, J., Chiu, A., Haig, T., Harris, M., Sanchez, K., Thannhauser, J., Walker, L., Wright, C., Tulinius, M., Alhander, A., Ekstrom, A., Gustafsson, A., Kroksmark, A., Sterky, U., Wahlgren, L., Thangarajh, M., Birkmeier, M., Kaminski, S., Tadesse, B., Toles, A., Kornberg, A., Ryan, M., Carroll, K., DeValle, K., Day, J. & On behalf of the CINRG Investigators Dec 1 2017 In : Pediatric Cardiology. 38, 8, p. 1606-1612 7 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Cardiomyopathies
Biomarkers
Healthy Volunteers
Metalloproteases
9 Citations

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

Bello, L. , Punetha, J. , Gordish-Dressman, H. , Giri, M. , Hoffman, E. P. , Bello, L. , Barp, A. , Vianello, S. , Pegoraro, E. , Flanigan, K. M. , Flanigan, K. M. , Flanigan, K. M. , Weiss, R. B. , Spitali, P. , Aartsma-Rus, A. , Aartsma-Rus, A. , Straub, V. , Lochmüller, H. , Muntoni, F. , Zaharieva, I. & 75 others Ferlini, A., Mercuri, E., Tuffery-Giraud, S., Claustres, M., McDonald, C. M., Dunn, D. M., Swoboda, K. J., Gappmaier, E., Howard, M. T., Sampson, J. B., Bromberg, M. B., Butterfield, R., Kerr, L., Pestronk, A., Florence, J. M., Connolly, A., Lopate, G., Golumbek, P., Schierbecker, J., Malkus, B., Renna, R., Siener, C., Finkel, R. S., Bonnemann, C. G., Medne, L., Glanzman, A. M., Flickinger, J., Mendell, J. R., King, W. M., Lowes, L., Alfano, L., Mathews, K. D., Stephan, C., Laubenthal, K., Baldwin, K., Wong, B., Morehart, P., Meyer, A., Day, J. W., Naughton, C. E., Margolis, M., Cnaan, A., Abresch, R. T., Henricson, E. K., Morgenroth, L. P., Duong, T., Chidambaranathan, V. V., Biggar, W. D., McAdam, L. C., Mah, J., Tulinius, M., Leshner, R., Rocha, C. T., Thangarajh, M., Kornberg, A., Ryan, M., Nevo, Y., Dubrovsky, A., Clemens, P. R., Abdel-Hamid, H., Connolly, A. M., Pestronk, A., Teasley, J., Bertorini, T. E., North, K., Webster, R., Kolski, H., Kuntz, N., Driscoll, S., Carlo, J., Gorni, K., Lotze, T., Day, J. W., Karachunski, P. & Bodensteiner, J. B. Nov 3 2016 In : American Journal of Human Genetics. 99, 5, p. 1163-1171 9 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Transforming Growth Factor beta
Exons
Exome
Single Nucleotide Polymorphism