Alias L - Search Results

1

Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: lessons for carrier diagnosis.

Barceló MJ, Alias L, Caselles L, Robles Y, Baiget M, Tizzano EF. Barceló MJ, et al. Among authors: alias l. Genet Med. 2006 Apr;8(4):259-62. doi: 10.1097/01.gim.0000214319.99550.10. Genet Med. 2006. PMID: 16617248 Free article.

2

A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.

Alias L, Gallano P, Moreno D, Pujol R, Martínez-Matos JA, Baiget M, Ferrer I, Olivé M. Alias L, et al. Neuromuscul Disord. 2004 May;14(5):321-4. doi: 10.1016/j.nmd.2004.01.006. Neuromuscul Disord. 2004. PMID: 15099591

3

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. 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

4

Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients.

Gamez J, Also E, Alias L, Corbera-Bellalta M, Barceló MJ, Centeno M, Raguer N, Gratacós M, Baiget M, Tizzano EF. Gamez J, et al. Among authors: alias l. Clin Neurol Neurosurg. 2007 Dec;109(10):844-8. doi: 10.1016/j.clineuro.2007.07.019. Epub 2007 Sep 11. Clin Neurol Neurosurg. 2007. PMID: 17850955

5

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

Alías L, Bernal S, Fuentes-Prior P, Barceló MJ, Also E, Martínez-Hernández R, Rodríguez-Alvarez FJ, Martín Y, Aller E, Grau E, Peciña A, Antiñolo G, Galán E, Rosa AL, Fernández-Burriel M, Borrego S, Millán JM, Hernández-Chico C, Baiget M, Tizzano EF. Alías L, et al. Hum Genet. 2009 Feb;125(1):29-39. doi: 10.1007/s00439-008-0598-1. Epub 2008 Dec 3. Hum Genet. 2009. PMID: 19050931

6

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: alias l. J Neuropathol Exp Neurol. 2009 May;68(5):474-81. doi: 10.1097/NEN.0b013e3181a10ea1. J Neuropathol Exp Neurol. 2009. PMID: 19525895

7

Measurement of muscle strength with a handheld dynamometer in patients with chronic spinal muscular atrophy.

Febrer A, Rodriguez N, Alias L, Tizzano E. Febrer A, et al. Among authors: alias l. J Rehabil Med. 2010 Mar;42(3):228-31. doi: 10.2340/16501977-0507. J Rehabil Med. 2010. PMID: 20411217 Free article.

8

The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor.

Bernal S, Alías L, Barceló MJ, Also-Rallo E, Martínez-Hernández R, Gámez J, Guillén-Navarro E, Rosell J, Hernando I, Rodríguez-Alvarez FJ, Borrego S, Millán JM, Hernández-Chico C, Baiget M, Fuentes-Prior P, Tizzano EF. Bernal S, et al. Among authors: alias l. J Med Genet. 2010 Sep;47(9):640-2. doi: 10.1136/jmg.2010.079004. Epub 2010 Jun 24. J Med Genet. 2010. PMID: 20577007

9

Ultrasound evaluation of fetal movements in pregnancies at risk for severe spinal muscular atrophy.

Parra J, Martínez-Hernández R, Also-Rallo E, Alias L, Barceló MJ, Amenedo M, Medina C, Senosiain R, Calaf J, Baiget M, Bernal S, Tizzano EF. Parra J, et al. Among authors: alias l. Neuromuscul Disord. 2011 Feb;21(2):97-101. doi: 10.1016/j.nmd.2010.09.010. Epub 2010 Dec 30. Neuromuscul Disord. 2011. PMID: 21194946

10

Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings.

Bernal S, Also-Rallo E, Martínez-Hernández R, Alías L, Rodríguez-Alvarez FJ, Millán JM, Hernández-Chico C, Baiget M, Tizzano EF. Bernal S, et al. Among authors: alias l. Neuromuscul Disord. 2011 Jun;21(6):413-9. doi: 10.1016/j.nmd.2011.03.009. Epub 2011 May 4. Neuromuscul Disord. 2011. PMID: 21546251

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