Tizzano EF - Search Results

1

Neuroprotective Effect of Non-viral Gene Therapy Treatment Based on Tetanus Toxin C-fragment in a Severe Mouse Model of Spinal Muscular Atrophy.

Oliván S, Calvo AC, Rando A, Herrando-Grabulosa M, Manzano R, Zaragoza P, Tizzano EF, Aquilera J, Osta R. Oliván S, et al. Among authors: tizzano ef. Front Mol Neurosci. 2016 Aug 24;9:76. doi: 10.3389/fnmol.2016.00076. eCollection 2016. Front Mol Neurosci. 2016. PMID: 27605908 Free PMC article.

2

Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.

Carrasco E, López-Fernández A, Codina-Sola M, Valenzuela I, Cueto-González AM, Villacampa G, Navarro V, Torres-Esquius S, Palau D, Cruellas M, Torres M, Perez-Dueñas B, Abulí A, Diez O, Sábado-Álvarez C, García-Arumí E, Tizzano EF, Moreno L, Balmaña J. Carrasco E, et al. Among authors: tizzano ef. J Med Genet. 2023 Jul;60(7):685-691. doi: 10.1136/jmg-2022-108929. Epub 2022 Nov 29. J Med Genet. 2023. PMID: 36446584

3

Prenatal diagnosis for risk of spinal muscular atrophy.

Cuscó I, Barceló MJ, Soler C, Parra J, Baiget M, Tizzano E. Cuscó I, et al. BJOG. 2002 Nov;109(11):1244-9. BJOG. 2002. PMID: 12452462

4

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.

Cuscó I, López E, Soler-Botija C, Jesús Barceló M, Baiget M, Tizzano EF. Cuscó I, et al. Among authors: tizzano ef. Hum Mutat. 2003 Aug;22(2):136-43. doi: 10.1002/humu.10245. Hum Mutat. 2003. PMID: 12872254

5

Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy.

Alias L, Barceló MJ, Gich I, Estapé M, Parra J, Amenedo M, Baiget M, Tizzano EF. Alias L, et al. Among authors: tizzano ef. Eur J Hum Genet. 2007 Oct;15(10):1090-3. doi: 10.1038/sj.ejhg.5201886. Epub 2007 Jul 11. Eur J Hum Genet. 2007. PMID: 17625510

6

Reorganization of Cajal bodies and nucleolar targeting of coilin in motor neurons of type I spinal muscular atrophy.

Tapia O, Bengoechea R, Palanca A, Arteaga R, Val-Bernal JF, Tizzano EF, Berciano MT, Lafarga M. Tapia O, et al. Among authors: tizzano ef. Histochem Cell Biol. 2012 May;137(5):657-67. doi: 10.1007/s00418-012-0921-8. Epub 2012 Feb 1. Histochem Cell Biol. 2012. PMID: 22302308

7

Abnormalities in early markers of muscle involvement support a delay in myogenesis in spinal muscular atrophy.

Martínez-Hernández R, Bernal S, Alias L, Tizzano EF. Martínez-Hernández R, et al. Among authors: tizzano ef. J Neuropathol Exp Neurol. 2014 Jun;73(6):559-67. doi: 10.1097/NEN.0000000000000078. J Neuropathol Exp Neurol. 2014. PMID: 24806300

8

Severe brain involvement in 5q spinal muscular atrophy type 0.

Mendonça RH, Rocha AJ, Lozano-Arango A, Diaz AB, Castiglioni C, Silva AMS, Reed UC, Kulikowski L, Paramonov I, Cuscó I, Tizzano EF, Zanoteli E. Mendonça RH, et al. Among authors: tizzano ef. Ann Neurol. 2019 Sep;86(3):458-462. doi: 10.1002/ana.25549. Epub 2019 Jul 24. Ann Neurol. 2019. PMID: 31301241

9

The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.

Costa-Roger M, Blasco-Pérez L, Cuscó I, Tizzano EF. Costa-Roger M, et al. Among authors: tizzano ef. Int J Mol Sci. 2021 Aug 21;22(16):9029. doi: 10.3390/ijms22169029. Int J Mol Sci. 2021. PMID: 34445733 Free PMC article. Review.

10

[The contribution of molecular genetics to the study of spinal muscular atrophy].

Bussaglia E, Tizzano E, Baiget M. Bussaglia E, et al. Neurologia. 1996 Dec;11 Suppl 5:14-9. Neurologia. 1996. PMID: 9044570 Review. Spanish.

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