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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 2
1993 2
1994 4
1995 3
1996 2
1997 1
1998 1
2001 1
2002 6
2003 4
2004 1
2005 5
2006 2
2007 4
2008 4
2009 4
2010 4
2011 5
2012 6
2013 2
2014 3
2015 1
2016 1
2017 4
2018 5
2019 11
2020 13
2021 11
2022 11
2023 8
2024 5

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117 results

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Page 1
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.
Calucho M, Bernal S, Alías L, March F, Venceslá A, Rodríguez-Álvarez FJ, Aller E, Fernández RM, Borrego S, Millán JM, Hernández-Chico C, Cuscó I, Fuentes-Prior P, Tizzano EF. Calucho M, et al. Among authors: tizzano ef. Neuromuscul Disord. 2018 Mar;28(3):208-215. doi: 10.1016/j.nmd.2018.01.003. Epub 2018 Jan 11. Neuromuscul Disord. 2018. PMID: 29433793
Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification.
Proud CM, Mercuri E, Finkel RS, Kirschner J, De Vivo DC, Muntoni F, Saito K, Tizzano EF, Desguerre I, Quijano-Roy S, Benguerba K, Raju D, Faulkner E, Servais L. Proud CM, et al. Among authors: tizzano ef. Ann Clin Transl Neurol. 2023 Nov;10(11):2155-2160. doi: 10.1002/acn3.51889. Epub 2023 Sep 10. Ann Clin Transl Neurol. 2023. PMID: 37691296 Free PMC article.
Natural history of KBG syndrome in a large European cohort.
Loberti L, Bruno LP, Granata S, Doddato G, Resciniti S, Fava F, Carullo M, Rahikkala E, Jouret G, Menke LA, Lederer D, Vrielynck P, Ryba L, Brunetti-Pierri N, Lasa-Aranzasti A, Cueto-González AM, Trujillano L, Valenzuela I, Tizzano EF, Spinelli AM, Bruno I, Currò A, Stanzial F, Benedicenti F, Lopergolo D, Santorelli FM, Aristidou C, Tanteles GA, Maystadt I, Tkemaladze T, Reimand T, Lokke H, Õunap K, Haanpää MK, Holubová A, Zoubková V, Schwarz M, Žordania R, Muru K, Roht L, Tihveräinen A, Teek R, Thomson U, Atallah I, Superti-Furga A, Buoni S, Canitano R, Scandurra V, Rossetti A, Grosso S, Battini R, Baldassarri M, Mencarelli MA, Rizzo CL, Bruttini M, Mari F, Ariani F, Renieri A, Pinto AM. Loberti L, et al. Among authors: tizzano ef. Hum Mol Genet. 2022 Dec 16;31(24):4131-4142. doi: 10.1093/hmg/ddac167. Hum Mol Genet. 2022. PMID: 35861666 Free PMC article.
Neurofilament as a potential biomarker for spinal muscular atrophy.
Darras BT, Crawford TO, Finkel RS, Mercuri E, De Vivo DC, Oskoui M, Tizzano EF, Ryan MM, Muntoni F, Zhao G, Staropoli J, McCampbell A, Petrillo M, Stebbins C, Fradette S, Farwell W, Sumner CJ. Darras BT, et al. Among authors: tizzano ef. Ann Clin Transl Neurol. 2019 Apr 17;6(5):932-944. doi: 10.1002/acn3.779. eCollection 2019 May. Ann Clin Transl Neurol. 2019. PMID: 31139691 Free PMC article. Clinical Trial.
The clinical landscape for SMA in a new therapeutic era.
Talbot K, Tizzano EF. Talbot K, et al. Among authors: tizzano ef. Gene Ther. 2017 Sep;24(9):529-533. doi: 10.1038/gt.2017.52. Epub 2017 Jul 23. Gene Ther. 2017. PMID: 28644430 Free PMC article. Review.
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.
Servais L, Day JW, De Vivo DC, Kirschner J, Mercuri E, Muntoni F, Proud CM, Shieh PB, Tizzano EF, Quijano-Roy S, Desguerre I, Saito K, Faulkner E, Benguerba KM, Raju D, LaMarca N, Sun R, Anderson FA, Finkel RS. Servais L, et al. Among authors: tizzano ef. J Neuromuscul Dis. 2024;11(2):425-442. doi: 10.3233/JND-230122. J Neuromuscul Dis. 2024. PMID: 38250783 Free PMC article.
117 results