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Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.
Savarese M, Palmio J, Poza JJ, Weinberg J, Olive M, Cobo AM, Vihola A, Jonson PH, Sarparanta J, García-Bragado F, Urtizberea JA, Hackman P, Udd B. Savarese M, et al. Among authors: poza jj. Ann Neurol. 2019 Jun;85(6):899-906. doi: 10.1002/ana.25470. Epub 2019 Apr 3. Ann Neurol. 2019. PMID: 30900782
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: poza jj. Brain. 1998 Sep;121 ( Pt 9):1735-47. doi: 10.1093/brain/121.9.1735. Brain. 1998. PMID: 9762961
Prevalence of myotonic dystrophy in Guipúzcoa (Basque Country, Spain).
López de Munain A, Blanco A, Emparanza JI, Poza JJ, Martí Massó JF, Cobo A, Martorell L, Baiget M, Martínez Lage JM. López de Munain A, et al. Among authors: poza jj. Neurology. 1993 Aug;43(8):1573-6. doi: 10.1212/wnl.43.8.1573. Neurology. 1993. PMID: 8351014
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. Among authors: poza jj. Brain. 2005 Apr;128(Pt 4):732-42. doi: 10.1093/brain/awh408. Epub 2005 Feb 2. Brain. 2005. PMID: 15689361
[Basic concepts in molecular genetics].
Cobo AM, Poza JJ, Sáenz A, López de Munain A. Cobo AM, et al. Among authors: poza jj. Rev Neurol. 1996 Mar;24(127):315-9. Rev Neurol. 1996. PMID: 8742399 Review. Spanish. No abstract available.
89 results