Tizzano EF - Search Results

1

The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation.

Martínez-Hernández R, Soler-Botija C, Also E, Alias L, Caselles L, Gich I, Bernal S, Tizzano EF. Martínez-Hernández R, et al. Among authors: tizzano ef. J Neuropathol Exp Neurol. 2009 May;68(5):474-81. doi: 10.1097/NEN.0b013e3181a10ea1. J Neuropathol Exp Neurol. 2009. PMID: 19525895

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

[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.

4

Cramps and minimal EMG abnormalities as preclinical manifestations of spinal muscular atrophy patients with homozygous deletions of the SMN gene.

Bussaglia E, Tizzano EF, Illa I, Cervera C, Baiget M. Bussaglia E, et al. Among authors: tizzano ef. Neurology. 1997 May;48(5):1443-5. doi: 10.1212/wnl.48.5.1443. Neurology. 1997. PMID: 9153488

5

Cell-specific survival motor neuron gene expression during human development of the central nervous system: implications for the pathogenesis of spinal muscular atrophy.

Tizzano EF, Cabot C, Baiget M. Tizzano EF, et al. Am J Pathol. 1998 Aug;153(2):355-61. doi: 10.1016/S0002-9440(10)65578-2. Am J Pathol. 1998. PMID: 9708795 Free PMC article.

6

[Molecular basis of spinal muscular atrophy: th SMN gene].

Tizzano E, Baiget M. Tizzano E, et al. Neurologia. 2000 Nov;15(9):393-400. Neurologia. 2000. PMID: 11195146 Review. Spanish.

7

Should gamete donors be tested for spinal muscular atrophy?

Tizzano EF, Cuscó I, Barceló MJ, Parra J, Baiget M. Tizzano EF, et al. Fertil Steril. 2002 Feb;77(2):409-11. doi: 10.1016/s0015-0282(01)02994-6. Fertil Steril. 2002. PMID: 11821106 Free article.

8

Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord.

Soler-Botija C, Ferrer I, Gich I, Baiget M, Tizzano EF. Soler-Botija C, et al. Among authors: tizzano ef. Brain. 2002 Jul;125(Pt 7):1624-34. doi: 10.1093/brain/awf155. Brain. 2002. PMID: 12077011

9

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

10

Downregulation of Bcl-2 proteins in type I spinal muscular atrophy motor neurons during fetal development.

Soler-Botija C, Ferrer I, Alvarez JL, Baiget M, Tizzano EF. Soler-Botija C, et al. Among authors: tizzano ef. J Neuropathol Exp Neurol. 2003 Apr;62(4):420-6. doi: 10.1093/jnen/62.4.420. J Neuropathol Exp Neurol. 2003. PMID: 12722834

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