Tizzano EF - Search Results

1

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.

2

A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.

Bussaglia E, Clermont O, Tizzano E, Lefebvre S, Bürglen L, Cruaud C, Urtizberea JA, Colomer J, Munnich A, Baiget M, et al. Bussaglia E, et al. Nat Genet. 1995 Nov;11(3):335-7. doi: 10.1038/ng1195-335. Nat Genet. 1995. PMID: 7581461

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

[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.

6

Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases.

Cuscó I, Barceló MJ, del Rio E, Martín Y, Hernández-Chico C, Bussaglia E, Baiget M, Tizzano EF. Cuscó I, et al. Among authors: tizzano ef. Hum Genet. 2001 Mar;108(3):222-9. doi: 10.1007/s004390000452. Hum Genet. 2001. PMID: 11354634

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

8

Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients.

Gamez J, Barceló MJ, Muñoz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF. Gamez J, et al. Among authors: tizzano ef. Neurology. 2002 Nov 12;59(9):1456-60. doi: 10.1212/01.wnl.0000032496.64510.4e. Neurology. 2002. PMID: 12427907

9

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

10

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

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