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The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation.
J Neuropathol Exp Neurol. 2009 May;68(5):474-81. doi: 10.1097/NEN.0b013e3181a10ea1.
J Neuropathol Exp Neurol. 2009.
PMID: 19525895
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. Among authors: also e.
Hum Genet. 2009 Feb;125(1):29-39. doi: 10.1007/s00439-008-0598-1. Epub 2008 Dec 3.
Hum Genet. 2009.
PMID: 19050931
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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: also e.
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
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Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population.
Hasanzad M, Azad M, Kahrizi K, Saffar BS, Nafisi S, Keyhanidoust Z, Azimian M, Refah AA, Also E, Urtizberea JA, Tizzano EF, Najmabadi H.
Hasanzad M, et al. Among authors: also e.
Eur J Neurol. 2010 Jan;17(1):160-2. doi: 10.1111/j.1468-1331.2009.02693.x. Epub 2009 Jun 15.
Eur J Neurol. 2010.
PMID: 19538222
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