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Page 1
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: rodriguez martinez ab. Neurology. 2005 May 10;64(9):1578-85. doi: 10.1212/01.WNL.0000160116.65034.12. Neurology. 2005. PMID: 15883319
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: rodriguez martinez ab. 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.
A novel PRNP Y218N mutation in Gerstmann-Sträussler-Scheinker disease with neurofibrillary degeneration.
Alzualde A, Indakoetxea B, Ferrer I, Moreno F, Barandiaran M, Gorostidi A, Estanga A, Ruiz I, Calero M, van Leeuwen FW, Atares B, Juste R, Rodriguez-Martínez AB, López de Munain A. Alzualde A, et al. Among authors: rodriguez martinez ab. J Neuropathol Exp Neurol. 2010 Aug;69(8):789-800. doi: 10.1097/NEN.0b013e3181e85737. J Neuropathol Exp Neurol. 2010. PMID: 20613639
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: rodriguez martinez ab. 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
5-Hydroxytryptamine 6 receptor (5-HT(6)) receptor and apolipoprotein E (ApoE) polymorphisms in patients with Alzheimer's disease in the Basque Country.
Alvarez-Alvarez M, Galdos L, Fernández-Martínez M, Gómez-Busto F, García-Centeno V, Arias-Arias C, Sánchez-Salazar C, Rodríguez-Martínez AB, Zarranz JJ, de Pancorbo MM. Alvarez-Alvarez M, et al. Neurosci Lett. 2003 Mar 13;339(1):85-7. doi: 10.1016/s0304-3940(02)01425-8. Neurosci Lett. 2003. PMID: 12618306
Ancestral origins of the prion protein gene D178N mutation in the Basque Country.
Rodríguez-Martínez AB, Barreau C, Coupry I, Yagüe J, Sánchez-Valle R, Galdós-Alcelay L, Ibáñez A, Digón A, Fernández-Manchola I, Goizet C, Castro A, Cuevas N, Alvarez-Alvarez M, de Pancorbo MM, Arveiler B, Zarranz JJ. Rodríguez-Martínez AB, et al. Hum Genet. 2005 Jun;117(1):61-9. doi: 10.1007/s00439-005-1277-0. Epub 2005 Apr 2. Hum Genet. 2005. PMID: 15806397
12 results