Projects per year
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.
- 1 Similar Profiles
Autoimmune Experimental Myasthenia Gravis
Medicine & Life Sciences
Duchenne Muscular Dystrophy
Medicine & Life Sciences
Cholinergic Receptors
Medicine & Life Sciences
Epitopes
Medicine & Life Sciences
Torpedo
Medicine & Life Sciences
Intranasal Administration
Medicine & Life Sciences
Muscles
Medicine & Life Sciences
Artificial Receptors
Medicine & Life Sciences
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
Projects 2006 2023
A Long-term Observational Study Evaluating Eteplirsen in Patients with Duchenne Muscular Dystrophyunder Conditions of Routine Clinical Practice
10/17/19 → 10/31/23
Project: Research project
Duchenne Muscular Dystrophy
Observational Studies
Preclinical Studies in Pluripotent Stem Cell-Derived Myogenic Progenitors to Enable a First-in-Human Phase 1 Safety/Dose Escalation Trial for Duchenne Muscular Dystrophy
Perlingeiro, R., Karachunski, P. I., McKenna, D. H., Schumacher, R. J. & Wagner, J. E.
9/15/19 → 8/31/21
Project: Research project
Pluripotent Stem Cells
Duchenne Muscular Dystrophy
Safety
Children and youth with special health needs care coordination quality improvement
5/1/19 → 10/31/20
Project: Research project
Quality Improvement
Delivery of Health Care
Phase 2 clinical pharmacology study in nmDMD patients to assess dystrophin levels in patients with nmDMD who have been treated with ataluren
12/1/18 → 11/30/23
Project: Research project
Dystrophin
Clinical Pharmacology
Clinical Studies
ataluren
A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy
7/1/18 → 6/30/20
Project: Research project
Duchenne Muscular Dystrophy
Placebos
Pediatrics
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, , Aug 1 2019, In : Genetics in Medicine. 21, 8, 1 p.Research output: Contribution to journal › Comment/debate
Medicine
Phenotype
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
Care4Rare Canada Consortium, Dec 1 2019, In : Acta Neuropathologica. 138, 6, p. 1013-1031 19 p.Research output: Contribution to journal › Article
Muscular Dystrophies
Mitochondrial DNA
Mitochondrial Dynamics
Mutation
Fibroblasts
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, , Mar 1 2019, In : Genetics in Medicine. 21, 3, p. 601-607 7 p.Research output: Contribution to journal › Article
Exome
Phenotype
Genotype
Rhabdomyolysis
Brain Diseases
1
Citation
(Scopus)
Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy
the Duchenne Muscular Dystrophy Regulatory Science Consortium (D-RSC), Oct 1 2019, In : Journal of Pharmacokinetics and Pharmacodynamics. 46, 5, p. 441-455 15 p.Research output: Contribution to journal › Article
Duchenne Muscular Dystrophy
Clinical Protocols
Rare Diseases
Uncertainty
Clinical Trials
4
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, , Apr 10 2018, In : Neurology. 90, 15, p. e1333-e1338Research output: Contribution to journal › Article
Open Access
Facioscapulohumeral Muscular Dystrophy
Age of Onset
Muscles
Linear Models
Disease Progression