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The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia.
Zarranz JJ, Alegre J, Gómez-Esteban JC, Lezcano E, Ros R, Ampuero I, Vidal L, Hoenicka J, Rodriguez O, Atarés B, Llorens V, Gomez Tortosa E, del Ser T, Muñoz DG, de Yebenes JG. Zarranz JJ, et al. Among authors: atares b. Ann Neurol. 2004 Feb;55(2):164-73. doi: 10.1002/ana.10795. Ann Neurol. 2004. PMID: 14755719
A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.
Zarranz JJ, Ferrer I, Lezcano E, Forcadas MI, Eizaguirre B, Atarés B, Puig B, Gómez-Esteban JC, Fernández-Maiztegui C, Rouco I, Pérez-Concha T, Fernández M, Rodríguez O, Rodríguez-Martínez AB, de Pancorbo MM, Pastor P, Pérez-Tur J. Zarranz JJ, et al. Among authors: atares b. Neurology. 2005 May 10;64(9):1578-85. doi: 10.1212/01.WNL.0000160116.65034.12. Neurology. 2005. PMID: 15883319
Familial prion diseases in the Basque Country (Spain).
Zarranz JJ, Digon A, Atarés B, Arteagoitia JM, Carrera N, Fernández-Manchola I, Fernández-Martínez M, Fernández-Maiztegui C, Forcadas I, Galdos L, Ibáñez A, Lezcano E, Martí-Massó JF, Mendibe MM, Urtasun M, Uterga JM, Saracibar N, Velasco F, González de Galdeano L. Zarranz JJ, et al. Among authors: atares b. Neuroepidemiology. 2005;24(1-2):103-9. doi: 10.1159/000081057. Epub 2004 Sep 24. Neuroepidemiology. 2005. PMID: 15459517
Phenotypic variability in familial prion diseases due to the D178N mutation.
Zarranz JJ, Digon A, Atarés B, Rodríguez-Martínez AB, Arce A, Carrera N, Fernández-Manchola I, Fernández-Martínez M, Fernández-Maiztegui C, Forcadas I, Galdos L, Gómez-Esteban JC, Ibáñez A, Lezcano E, López de Munain A, Martí-Massó JF, Mendibe MM, Urtasun M, Uterga JM, Saracibar N, Velasco F, de Pancorbo MM. Zarranz JJ, et al. Among authors: atares b. J Neurol Neurosurg Psychiatry. 2005 Nov;76(11):1491-6. doi: 10.1136/jnnp.2004.056606. J Neurol Neurosurg Psychiatry. 2005. PMID: 16227536 Free PMC article.
Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene.
Alzualde A, Moreno F, Martínez-Lage P, Ferrer I, Gorostidi A, Otaegui D, Blázquez L, Atares B, Cardoso S, Martínez de Pancorbo M, Juste R, Rodríguez-Martínez AB, Indakoetxea B, López de Munain A. Alzualde A, et al. Among authors: atares b. Am J Med Genet B Neuropsychiatr Genet. 2010 Oct 5;153B(7):1283-91. doi: 10.1002/ajmg.b.31099. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20872767
15 results