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LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
Sáenz A, Leturcq F, Cobo AM, Poza JJ, Ferrer X, Otaegui D, Camaño P, Urtasun M, Vílchez J, Gutiérrez-Rivas E, Emparanza J, Merlini L, Paisán C, Goicoechea M, Blázquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan JC, Urtizberea JA, Martí-Massó JF, López de Munain A. Sáenz A, et al. Brain. 2005 Apr;128(Pt 4):732-42. doi: 10.1093/brain/awh408. Epub 2005 Feb 2. Brain. 2005. PMID: 15689361
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).
Urtasun M, Sáenz A, Roudaut C, Poza JJ, Urtizberea JA, Cobo AM, Richard I, García Bragado F, Leturcq F, Kaplan JC, Martí Massó JF, Beckmann JS, López de Munain A. Urtasun M, et al. Among authors: saenz a. Brain. 1998 Sep;121 ( Pt 9):1735-47. doi: 10.1093/brain/121.9.1735. Brain. 1998. PMID: 9762961
[Basic concepts in molecular genetics].
Cobo AM, Poza JJ, Sáenz A, López de Munain A. Cobo AM, et al. Among authors: saenz a. Rev Neurol. 1996 Mar;24(127):315-9. Rev Neurol. 1996. PMID: 8742399 Review. Spanish. No abstract available.
[Alterations in functional proteins. Calpaine-3 deficiency].
López de Munain A, Urtasun A, Poza JJ, Ruiz J, Sáenz A, Cobo AM, Lasa A, Gallano P, Baiget M, Martí-Massó JF. López de Munain A, et al. Among authors: saenz a. Rev Neurol. 1999 Jan 16-31;28(2):158-64. Rev Neurol. 1999. PMID: 10101785 Review. Spanish.
Apolipoprotein E epsilon4 allele in familial and sporadic Parkinson's disease.
Blázquez L, Otaegui D, Sáenz A, Paisán-Ruiz C, Emparanza JI, Ruiz-Martinez J, Moreno F, Martí-Massó JF, López de Munain A. Blázquez L, et al. Among authors: saenz a. Neurosci Lett. 2006 Oct 9;406(3):235-9. doi: 10.1016/j.neulet.2006.07.037. Epub 2006 Aug 14. Neurosci Lett. 2006. PMID: 16904828
404 results