• 6946 Citations
  • 41 h-Index
1986 …2018
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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
Biomarkers
Chemical Databases
Adrenal Cortex Hormones
Duchenne Muscular Dystrophy
Outcome Assessment (Health Care)
Therapeutics
Quality of Life
Psychological Stress

Research Output 1986 2018

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
Checklist
Steroids
Clinical Trials
1 Citations

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
Muscles
Linear Models
Disease Progression

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
Laminin
Lambert-Eaton Myasthenic Syndrome
Defects
Gene encoding
1 Citations

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

Prednisone
Prednisolone
Walking
Duchenne Muscular Dystrophy
Nonsense Codon

Evidence-based care in Duchenne muscular dystrophy

McDonald, C. M. & Mercuri, E., May 1 2018, In : The Lancet Neurology. 17, 5, p. 389-391 3 p.

Research output: Contribution to journalComment/debate

Duchenne Muscular Dystrophy