Fingerprint Fingerprint is based on mining the text of the person's 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
Therapeutics Medicine & Life Sciences
Muscles Medicine & Life Sciences
Duchenne Muscular Dystrophy Medicine & Life Sciences
Spinal Muscular Atrophies of Childhood Medicine & Life Sciences
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Muscular Dystrophies Medicine & Life Sciences

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Research Output 1974 2018

  • 6088 Citations
  • 43 h-Index
  • 155 Article
  • 3 Chapter
  • 1 Letter

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: Research - peer-reviewArticle

Spinal Muscular Atrophy
Ethics
Immunization
Lung
Standard of Care
3 Citations

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

Finkel, R. S. , Sejersen, T. , Mercuri, E. , Bertini, E. , Chen, K. , Crawford, T. O. , Dubowitz, V. , de Lemus, M. , Graham, R. , Hurst Davis, R. , Iannaccone, S. , Kirschner, J. , Main, M. , Mayer, O. , Mazzone, E. , Montes, J. , Muntoni, F. , Murphy, A. , Quijano-Roy, S. , Robertson, A. & 9 others Schroth, M., Simonds, A., Snyder, B., Vitale, M., Wittchen, A., Woods, S., Qian, Y., Wirth, B. & ENMC SMA Workshop Study Group Jun 1 2017 In : Neuromuscular Disorders. 27, 6, p. 596-605 10 p.

Research output: Research - peer-reviewArticle

4 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. & 59 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., Darras, B. T., Dastgir, J., Desguerre, I., Escobar, R. G., Finanger, E., Guglieri, M., Hughes, I., Iannaccone, S. T., Jones, K. J., Karachunski, P., Kudr, M., Lotze, T., Mah, J. K., Mathews, K., Nevo, Y., Parsons, J., Péréon, Y., de Queiroz Campos Araujo, A. P., Renfroe, J. B., de Resende, M. B. D., Ryan, M., Selby, K., Tennekoon, G., Vita, G., 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: Research - peer-reviewArticle

Duchenne Muscular Dystrophy
Nonsense Codon
Placebos
ataluren
Therapeutics
3 Citations

Characterization of pulmonary function in 10–18 year old patients with Duchenne muscular dystrophy

Meier, T. , Rummey, C. , Leinonen, M. , Spagnolo, P. , Mayer, O. H. , Buyse, G. M. , Bernert, G. , Knipp, F. , Buyse, G. M. , Goemans, N. , Van den Hauwe, M. , Voit, T. , Doppler, V. , Gidaro, T. , Cuisset, J. M. , Coopman, S. , Schara, U. , Lutz, S. , Kirschner, J. , Borell, S. & 28 others Will, M., D'Angelo, M. G., Brighina, E., Gandossini, S., Gorni, K., Falcier, E., Politano, L., D'Ambrosio, P., Taglia, A., Verschuuren, J. J. G. M., Straathof, C. S. M., Vílchez Padilla, J. J., Muelas Gómez, N., Sejersen, T., Hovmöller, M., Jeannet, P. Y., Bloetzer, C., Iannaccone, S., Castro, D., Tennekoon, G., Finkel, R., Bönnemann, C., McDonald, C., Henricson, E., Joyce, N., Apkon, S., Richardson, R. C. & the DELOS Study Group Apr 1 2017 In : Neuromuscular Disorders. 27, 4, p. 307-314 8 p.

Research output: Research - peer-reviewArticle

Duchenne Muscular Dystrophy
Vital Capacity
Lung
Respiratory Function Tests
Pressure
3 Citations

Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy

Buyse, G. M. , Voit, T. , Schara, U. , Straathof, C. S. M. , D'Angelo, M. G. , Bernert, G. , Cuisset, J. M. , Finkel, R. S. , Goemans, N. , Rummey, C. , Leinonen, M. , Mayer, O. H. , Spagnolo, P. , Meier, T. , McDonald, C. M. , Knipp, F. , Van den Hauwe, M. , Doppler, V. , Gidaro, T. , Coopman, S. & 47 others Lutz, S., Kirschner, J., Borell, S., Will, M., Brighina, E., Gandossini, S., Gorni, K., Falcier, E., Politano, L., D’Ambrosio, P., Taglia, A., Verschuuren, J. J. G. M., Vílchez Padilla, J. J., Muelas Gómez, N., Sejersen, T., Hovmöller, M., Jeannet, P. Y., Bloetzer, C., Iannaccone, S., Castro, D., Tennekoon, G., Finkel, R., Bönnemann, C., McDonald, C., Henricson, E., Joyce, N., Apkon, S., Richardson, R. C., for the DELOS Study Group, for the DELOS Study Group, for the DELOS Study Group, for the DELOS Study Group, for the DELOS Study Group, for the DELOS Study Group, for the DELOS Study Group, for the DELOS Study Group, for the DELOS Study Group, for the DELOS Study Group, for the DELOS Study Group, for the DELOS Study Group, for the DELOS Study Group, for the DELOS Study Group, for the DELOS Study Group, for the DELOS Study Group, for the DELOS Study Group, for the DELOS Study Group & for the DELOS Study Group Apr 1 2017 In : Pediatric Pulmonology. 52, 4, p. 508-515 8 p.

Research output: Research - peer-reviewArticle

Duchenne Muscular Dystrophy
Therapeutics
idebenone
Placebos
Respiration