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.

Cholinergic Receptors Medicine & Life Sciences
Autoimmune Experimental Myasthenia Gravis Medicine & Life Sciences
Epitopes Medicine & Life Sciences
Torpedo Medicine & Life Sciences
Duchenne Muscular Dystrophy Medicine & Life Sciences
Myasthenia Gravis Medicine & Life Sciences
Muscles Medicine & Life Sciences
T-Lymphocytes Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Projects 2006 2020

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

Research Output 1993 2017

Vibration
Bone and Bones
Muscles
Lower Extremity
Duchenne Muscular Dystrophy

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: Research - peer-reviewArticle

Mexiletine
Brain Diseases
Seizures
Mutation
Lidocaine

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. & 124 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., Kennedy, R., Rodriguez, V., Villano, D., Nevo, Y., Adani, R., Chen-Joseph, L., Simchovitz, E., Yaffe, D., Dubrovsky, A., Andreone, L., Bonaudo, F., Corderi, J., Mesa, L., Marco, P., Levi, L., Clemens, P., Abdel-Hamid, H., Bendixen, R., Bise, C., Craig, A., Karnavas, K., Matthews, C., Niizawa, G., Smith, A., Weimer, J., Connolly, A., Pestronk, A., Florence, J., Christenson, T., Golumbak, P., Lopate, G., Malane, J., Malkus, B., Renna, R., Schierbacker, J., Seiner, C., Wulf, C., Teasley, J., Blair, S., Grillo, B., Jones, K., Monasterio, E., Bertorini, T., Igarashi, M., Barrett-Adair, M., Carter, K., Clift, J., Feliciano, C., Gatlin, B., Holloway, J., Young, R., Webster, R., North, K., Cornett, K., Gabriel, N., Miller, C., Rose, K., Wicks, S., Kolski, H., Chen, L., Kennedy, C., Gorni, K., Beneggi, M., Capone, L., Molteni, A., Morettini, V., Lotze, T., Gupta, A., Knight, A., Lott, B., McNeil, R., Karachunski, P., Day, J., Chambers, G., Dalton, J., Erickson, A., Margolis, M., Marsh, J., Naughton, C., Cnaan, A., Ahmed, M., Arrieta, A., Bartley, N., Brown-Caines, T., Canelos, P., Casper, R., Duong, T., Feng, J., Gordish-Dressman, H., Morgenroth, L., Hu, F., Hunegs, L., Sund, Z., Zimmerman, A. & On behalf of the CINRG Investigators Dec 1 2017 In : Pediatric Cardiology. 38, 8, p. 1606-1612 7 p.

Research output: Research - peer-reviewArticle

Duchenne Muscular Dystrophy
Cardiomyopathies
Biomarkers
Interleukin-1 Receptor-Like 1 Protein
Healthy Volunteers
8 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: Research - peer-reviewArticle

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

Case report: The specter of untreated congenital hypothyroidism in immigrant families

Hamdoun, E., Karachunski, P., Nathan, B., Fischer, M., Torkelson, J. L., Drilling, A. & Petryk, A. May 1 2016 In : Pediatrics. 137, 5, e20153418

Research output: Research - peer-reviewArticle

Congenital Hypothyroidism
Therapeutics
Siblings
Newborn Infant
Empty Sella Syndrome