• 7376 Citations
  • 43 h-Index
1986 …2019
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  • 4 Similar Profiles
Duchenne Muscular Dystrophy Medicine & Life Sciences
Neuromuscular Diseases Medicine & Life Sciences
Spinal Cord Injuries Medicine & Life Sciences
Muscles Medicine & Life Sciences
Natural History Medicine & Life Sciences
Muscular Dystrophies Medicine & Life Sciences
Pediatrics Medicine & Life Sciences
Walking Medicine & Life Sciences

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Projects 2011 2015

Duchenne Muscular Dystrophy
Natural History
Chemical Databases
Adrenal Cortex Hormones
Duchenne Muscular Dystrophy
Outcome Assessment (Health Care)
Quality of Life
Psychological Stress

Research Output 1986 2019

Twice-weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy

for the MDA DMD Clinical Research Network, Jan 1 2019, In : Muscle and Nerve.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Child Development
Weight Gain
1 Citation (Scopus)

A checklist for clinical trials in rare disease: Obstacles and anticipatory actions-lessons learned from the FOR-DMD trial

Crow, R. A., Hart, K. A., McDermott, M. P., Tawil, R., Martens, W. B., Herr, B. E., McColl, E., Wilkinson, J., Kirschner, J., King, W. M., Eagle, M., Brown, M. W., Hirtz, D., Lochmuller, H., Straub, V., Ciafaloni, E., Shieh, P. B., Spinty, S., Childs, A. M., Manzur, A. Y. & 28 othersMorandi, L., Butterfield, R. J., Horrocks, I., Roper, H., Flanigan, K. M., Kuntz, N. L., Mah, J. K., Morrison, L., Darras, B. T., von der Hagen, M., Schara, U., Wilichowski, E., Mongini, T., McDonald, C. M., Vita, G., Barohn, R. J., Finkel, R. S., Wicklund, M., McMillan, H. J., Hughes, I., Pegoraro, E., Bryan Burnette, W., Howard, J. F., Thangarajh, M., Campbell, C., Griggs, R. C., Bushby, K. & Guglieri, M., May 10 2018, In : Trials. 19, 1, 291.

Research output: Contribution to journalReview article

Duchenne Muscular Dystrophy
Rare Diseases
Clinical Trials
1 Citation (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 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
2 Citations (Scopus)

A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5

Maselli, R. A., Arredondo, J., Vázquez, J., Chong, J. X., Bamshad, M. J., Nickerson, D. A., Lara, M., Ng, F., Lo, V. L., Pytel, P. & McDonald, C. M., Jan 1 2018, (Accepted/In press) In : Annals of the New York Academy of Sciences.

Research output: Contribution to journalArticle

Congenital Myasthenic Syndromes
Lambert-Eaton Myasthenic Syndrome
Gene encoding
3 Citations (Scopus)

Deflazacort versus prednisone/prednisolone for maintaining motor function and delaying loss of ambulation: A post HOC analysis from the ACT DMD trial

AND THE ACT DMD STUDY GROUP, Jan 1 2018, (Accepted/In press) In : Muscle and Nerve.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Nonsense Codon