Fingerprint Fingerprint is based on mining the text of the persons scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 3 Similar Profiles
Spinal Muscular Atrophy Medicine & Life Sciences
Spinal Muscular Atrophies of Childhood Medicine & Life Sciences
Duchenne Muscular Dystrophy Medicine & Life Sciences
Muscles Medicine & Life Sciences
Muscular Dystrophies Medicine & Life Sciences
Vitamin E Deficiency Medicine & Life Sciences
Nemaline Myopathies Medicine & Life Sciences
Mutation Medicine & Life Sciences

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Research Output 1974 2018

  • 6317 Citations
  • 43 h-Index
  • 157 Article
  • 3 Chapter
  • 1 Letter
1 Citations

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

Finkel, R. S. , Mercuri, E. , Meyer, O. H. , Simonds, A. K. , Schroth, M. K. , Graham, R. J. , Kirschner, J. , Iannaccone, S. T. , Crawford, T. O. , Woods, S. , Muntoni, F. , Wirth, B. , Montes, J. , Main, M. , Mazzone, E. S. , Vitale, M. , Snyder, B. , Quijano-Roy, S. , Bertini, E. , Davis, R. H. & 2 others Qian, Y. & Sejersen, T. Jan 1 2018 (Accepted/In press) In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

Spinal Muscular Atrophy
Standard of Care

NINDS Common Data Elements for Congenital Muscular Dystrophy Clinical Research: A National Institute for Neurological Disorders and Stroke Project

Lawlor, M. W., Iannaccone, S. T., Mathews, K., Muntoni, F., Alai-Hansen, S., Odenkirchen, J. C. & Feldman, R. S. Jan 1 2018 In : Journal of Neuromuscular Diseases. 5, 1, p. 75-84 10 p.

Research output: Contribution to journalArticle

National Institute of Neurological Disorders and Stroke
Neuromuscular Diseases
Muscular Dystrophies
Common Data Elements
3 Citations

Nusinersen versus sham control in later-onset spinal muscular atrophy

Mercuri, E. , Darras, B. T. , Chiriboga, C. A. , Day, J. W. , Campbell, C. , Connolly, A. M. , Iannaccone, S. T. , Kirschner, J. , Kuntz, N. L. , Saito, K. , Shieh, P. B. , Tulinius, M. , Mazzone, E. S. , Montes, J. , Bishop, K. M. , Yang, Q. , Foster, R. , Gheuens, S. , Bennett, C. F. , Farwell, W. & 3 others Schneider, E., De Vivo, D. C. & Finkel, R. S. Feb 15 2018 In : New England Journal of Medicine. 378, 7, p. 625-635 11 p.

Research output: Contribution to journalArticle

Spinal Muscular Atrophy
Control Groups
Least-Squares Analysis
RNA Splicing
Motor Skills
7 Citations

218th ENMC International Workshop:: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19–21 February 2016

ENMC SMA Workshop Study Group Jun 1 2017 In : Neuromuscular Disorders. 27, 6, p. 596-605 10 p.

Research output: Contribution to journalArticle

11 Citations

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

McDonald, C. M. , Campbell, C. , Torricelli, R. E. , Finkel, R. S. , Flanigan, K. M. , Goemans, N. , Heydemann, P. , Kaminska, A. , Kirschner, J. , Muntoni, F. , Osorio, A. N. , Schara, U. , Sejersen, T. , Shieh, P. B. , Sweeney, H. L. , Topaloglu, H. , Tulinius, M. , Vilchez, J. J. , Voit, T. , Wong, B. & 36 others Elfring, G., Kroger, H., Luo, X., McIntosh, J., Ong, T., Riebling, P., Souza, M., Spiegel, R. J., Peltz, S. W., Mercuri, E., Alfano, L. N., Eagle, M., James, M. K., Lowes, L., Mayhew, A., Mazzone, E. S., Nelson, L., Rose, K. J., Abdel-Hamid, H. Z., Apkon, S. D., Barohn, R. J., Bertini, E., Bloetzer, C., de Vaud, L. C., Butterfield, R. J., Chabrol, B., Chae, J. H., Jongno-gu, D. R., Comi, G. P., Iannaccone, S. T., Clinical Evaluator Training Group, ACT DMD Study Group, Clinical Evaluator Training Group, ACT DMD Study Group, ACT DMD Study Group & ACT DMD Study Group Sep 23 2017 In : The Lancet. 390, 10101, p. 1489-1498 10 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Nonsense Codon
Factor IX