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Spinal muscular atrophy: A changing phenotype beyond the clinical trials
Tizzano, Finkel
Neuromuscul Disord. 2017 Oct;27(10):883-889. doi: 10.1016/j.nmd.2017.05.011. Epub 2017 May 17.Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases
Maite Calucho, Sara Bernal, Laura Alías, Francesca March, Eduardo F. Tizzano
Research article, Neuromuscular Disorders, Volume 28, Issue 3, March 2018, Pages 208-215New and developing therapies in spinal muscular atrophy
Kariyawasam, Carey, Jones, Farrar
Paediatr Respir Rev. 2018 Apr 5. pii: S1526-0542(18)30048-4. doi: 10.1016/j.prrv.2018.03.003. [Epub ahead of print]Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
Mercuri, Finkel, Muntoni, Wirth, Montes, Main, Mazzone, Vitale, Snyder, Quijano-Roy, Bertini, Davis RH, Meyer, Simonds, Schroth, Graham, Kirschner, Iannaccone, Crawford, Woods
Neuromuscul Disord. 2018 Feb;28(2):103-115. doi: 10.1016/j.nmd.2017.11.005. Epub 2017 Nov 23.Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics
Finkel , Mercuri, Meyer, Simonds, Schroth, Graham, Kirschner, Iannaccone, Crawford, Woods, Muntoni, Wirth, Montes, Main, Mazzone, Vitale, Snyder, Quijano-Roy, Bertini, Davis
Neuromuscul Disord. 2018 Mar;28(3):197-207. doi: 10.1016/j.nmd.2017.11.004. Epub 2017 Nov 23.Developmental milestones in type I spinal muscular atrophy
De Sanctis, Coratti, Pasternak, Montes, Pane, Mazzone, Young, Salazar, Quigley, Pera, Antonaci, Lapenta, Glanzman, Tiziano, Muntoni, Darras, De Vivo, Finkel, Mercuri
Neuromuscul Disord. 2016 Nov;26(11):754-759. doi: 10.1016/j.nmd.2016.10.002. Epub 2016 Oct 5Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening
Glascock, Sampson, Haidet-Phillips, Connolly, Darras, Day, Finkel, Howell, Klinger, Kuntz, Prior, Shieh, Crawford, Kerr, Jarecki
J Neuromuscul Dis. 2018;5(2):145-158. doi: 10.3233/JND-180304.Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany
Pechmann, Langer, Schorling, Stein, Vogt, Schara, Kölbel, Schwartz, Hahn, Giese, Johannsen, Denecke, Weiß, Theophil, Kirschner
J Neuromuscul Dis. 2018;5(2):135-143. doi: 10.3233/JND-180315.