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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. Among authors: goicoechea m. Brain. 2005 Apr;128(Pt 4):732-42. doi: 10.1093/brain/awh408. Epub 2005 Feb 2. Brain. 2005. PMID: 15689361
CAPN3 mutations in patients with idiopathic eosinophilic myositis.
Krahn M, Lopez de Munain A, Streichenberger N, Bernard R, Pécheux C, Testard H, Pena-Segura JL, Yoldi E, Cabello A, Romero NB, Poza JJ, Bouillot-Eimer S, Ferrer X, Goicoechea M, Garcia-Bragado F, Leturcq F, Urtizberea JA, Lévy N. Krahn M, et al. Among authors: goicoechea m. Ann Neurol. 2006 Jun;59(6):905-11. doi: 10.1002/ana.20833. Ann Neurol. 2006. PMID: 16607617
Patient-specific iPSC-derived cellular models of LGMDR1.
Mateos-Aierdi AJ, Dehesa-Etxebeste M, Goicoechea M, Aiastui A, Richaud-Patin Y, Jiménez-Delgado S, Raya A, Naldaiz-Gastesi N, López de Munain A. Mateos-Aierdi AJ, et al. Among authors: goicoechea m. Stem Cell Res. 2021 May;53:102333. doi: 10.1016/j.scr.2021.102333. Epub 2021 Apr 8. Stem Cell Res. 2021. PMID: 33862537 Free article.
Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?
Krahn M, Goicoechea M, Hanisch F, Groen E, Bartoli M, Pécheux C, Garcia-Bragado F, Leturcq F, Jeannet PY, Lobrinus JA, Jacquemont S, Strober J, Urtizberea JA, Saenz A, Bushby K, Lévy N, Lopez de Munain A. Krahn M, et al. Among authors: goicoechea m. Clin Genet. 2011 Oct;80(4):398-402. doi: 10.1111/j.1399-0004.2010.01620.x. Clin Genet. 2011. PMID: 21204801 No abstract available.
186 results