Fingerprint The fingerprint is based on mining the text of the scientific documents related to the associated persons. Based on that an index of weighted terms is created, which defines the key subjects of research unit

Spinal Muscular Atrophy Medicine & Life Sciences
Stroke Medicine & Life Sciences
Pediatrics Medicine & Life Sciences
Therapeutics Medicine & Life Sciences
Genes Medicine & Life Sciences
Duchenne Muscular Dystrophy Medicine & Life Sciences
Mutation Medicine & Life Sciences
Muscles Medicine & Life Sciences

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Research Output 1990 2018

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

1 Citations

Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease

Nitschke, F., Sullivan, M. A., Wang, P., Zhao, X., Chown, E. E., Perri, A. M., Israelian, L., Juana-López, L., Bovolenta, P., Rodríguez de Córdoba, S., Steup, M. & Minassian, B. A. Jul 1 2017 In : EMBO Molecular Medicine. 9, 7, p. 906-917 12 p.

Research output: Research - peer-reviewArticle

Lafora Disease
Glycogen
Phosphoric Monoester Hydrolases
Autophagy
Ubiquitin-Protein Ligases