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Page 1
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: de pancorbo mm. 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 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: de pancorbo mm. Neurology. 2005 May 10;64(9):1578-85. doi: 10.1212/01.WNL.0000160116.65034.12. Neurology. 2005. PMID: 15883319
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. Among authors: de pancorbo mm. Hum Genet. 2005 Jun;117(1):61-9. doi: 10.1007/s00439-005-1277-0. Epub 2005 Apr 2. Hum Genet. 2005. PMID: 15806397
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. Among authors: de pancorbo mm. Neurosci Lett. 2003 Mar 13;339(1):85-7. doi: 10.1016/s0304-3940(02)01425-8. Neurosci Lett. 2003. PMID: 12618306
Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain.
González-Fernández MC, Lezcano E, Ross OA, Gómez-Esteban JC, Gómez-Busto F, Velasco F, Alvarez-Alvarez M, Rodríguez-Martínez MB, Ciordia R, Zarranz JJ, Farrer MJ, Mata IF, de Pancorbo MM. González-Fernández MC, et al. Among authors: de pancorbo mm. Parkinsonism Relat Disord. 2007 Dec;13(8):509-15. doi: 10.1016/j.parkreldis.2007.04.003. Epub 2007 May 30. Parkinsonism Relat Disord. 2007. PMID: 17540608
Lrrk2 R1441G-related Parkinson's disease: evidence of a common founding event in the seventh century in Northern Spain.
Mata IF, Hutter CM, González-Fernández MC, de Pancorbo MM, Lezcano E, Huerta C, Blazquez M, Ribacoba R, Guisasola LM, Salvador C, Gómez-Esteban JC, Zarranz JJ, Infante J, Jankovic J, Deng H, Edwards KL, Alvarez V, Zabetian CP. Mata IF, et al. Among authors: de pancorbo mm. Neurogenetics. 2009 Oct;10(4):347-53. doi: 10.1007/s10048-009-0187-z. Epub 2009 Mar 24. Neurogenetics. 2009. PMID: 19308469 Free PMC article.
161 results