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Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.
Melià MJ, Kubota A, Ortolano S, Vílchez JJ, Gámez J, Tanji K, Bonilla E, Palenzuela L, Fernández-Cadenas I, Pristoupilová A, García-Arumí E, Andreu AL, Navarro C, Hirano M, Martí R. Melià MJ, et al. Among authors: bonilla e. Brain. 2013 May;136(Pt 5):1508-17. doi: 10.1093/brain/awt074. Epub 2013 Mar 29. Brain. 2013. PMID: 23543484 Free PMC article.
Reversion of mtDNA depletion in a patient with TK2 deficiency.
Vilà MR, Segovia-Silvestre T, Gámez J, Marina A, Naini AB, Meseguer A, Lombès A, Bonilla E, DiMauro S, Hirano M, Andreu AL. Vilà MR, et al. Among authors: bonilla e. Neurology. 2003 Apr 8;60(7):1203-5. doi: 10.1212/01.wnl.0000055928.58122.47. Neurology. 2003. PMID: 12682338
Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene.
Andreu AL, Tanji K, Bruno C, Hadjigeorgiou GM, Sue CM, Jay C, Ohnishi T, Shanske S, Bonilla E, DiMauro S. Andreu AL, et al. Among authors: bonilla e. Ann Neurol. 1999 Jun;45(6):820-3. doi: 10.1002/1531-8249(199906)45:6<820::aid-ana22>3.0.co;2-w. Ann Neurol. 1999. PMID: 10360780
Loss of myelin-associated glycoprotein in kearns-sayre syndrome.
Lax NZ, Campbell GR, Reeve AK, Ohno N, Zambonin J, Blakely EL, Taylor RW, Bonilla E, Tanji K, DiMauro S, Jaros E, Lassmann H, Turnbull DM, Mahad DJ. Lax NZ, et al. Among authors: bonilla e. Arch Neurol. 2012 Apr;69(4):490-9. doi: 10.1001/archneurol.2011.2167. Arch Neurol. 2012. PMID: 22491194 Free PMC article.
432 results