Tizzano EF - Search Results

1

Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows.

Milligan JN, Blasco-Pérez L, Costa-Roger M, Codina-Solà M, Tizzano EF. Milligan JN, et al. Among authors: tizzano ef. Genes (Basel). 2022 Sep 15;13(9):1657. doi: 10.3390/genes13091657. Genes (Basel). 2022. PMID: 36140824 Free PMC article. Review.

2

Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene.

Cuscó I, Barceló MJ, Baiget M, Tizzano EF. Cuscó I, et al. Among authors: tizzano ef. Hum Mutat. 2002 Dec;20(6):452-9. doi: 10.1002/humu.10144. Hum Mutat. 2002. PMID: 12442269

3

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.

4

Spinal muscular atrophy: A changing phenotype beyond the clinical trials.

Tizzano EF, Finkel RS. Tizzano EF, et al. Neuromuscul Disord. 2017 Oct;27(10):883-889. doi: 10.1016/j.nmd.2017.05.011. Epub 2017 May 17. Neuromuscul Disord. 2017. PMID: 28757001 Review.

5

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

6

Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling.

Alías L, Bernal S, Calucho M, Martínez E, March F, Gallano P, Fuentes-Prior P, Abuli A, Serra-Juhe C, Tizzano EF. Alías L, et al. Among authors: tizzano ef. Eur J Hum Genet. 2018 Oct;26(10):1554-1557. doi: 10.1038/s41431-018-0193-4. Epub 2018 Jun 14. Eur J Hum Genet. 2018. PMID: 29904179 Free PMC article.

7

Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors.

Serra-Juhe C, Tizzano EF. Serra-Juhe C, et al. Among authors: tizzano ef. Eur J Hum Genet. 2019 Dec;27(12):1774-1782. doi: 10.1038/s41431-019-0415-4. Epub 2019 May 3. Eur J Hum Genet. 2019. PMID: 31053787 Free PMC article. Review.

8

Treating neonatal spinal muscular atrophy: A 21st century success story?

Tizzano EF. Tizzano EF. Early Hum Dev. 2019 Nov;138:104851. doi: 10.1016/j.earlhumdev.2019.104851. Epub 2019 Oct 8. Early Hum Dev. 2019. PMID: 31604576 Review.

9

Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases.

Rovira-Moreno E, Abuli A, Codina-Sola M, Valenzuela I, Serra-Juhe C, Cuscó I, Borregán M, Cueto-González A, Vendrell T, López-Grondona F, Brun-Gasca C, Brignani E, Martínez-Ribot L, Garci-Espejo R, Cruz J, García-Arumí E, Tizzano EF. Rovira-Moreno E, et al. Among authors: tizzano ef. J Genet Couns. 2021 Jun;30(3):693-700. doi: 10.1002/jgc4.1354. Epub 2020 Nov 3. J Genet Couns. 2021. PMID: 33142000

10

Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy.

Cuscó I, Bernal S, Blasco-Pérez L, Calucho M, Alias L, Fuentes-Prior P, Tizzano EF. Cuscó I, et al. Among authors: tizzano ef. Neurol Genet. 2020 Nov 18;6(6):e530. doi: 10.1212/NXG.0000000000000530. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33324756 Free PMC article.

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