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Page 1
Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease.
Lee SE, Tartaglia MC, Yener G, Genç S, Seeley WW, Sanchez-Juan P, Moreno F, Mendez MF, Klein E, Rademakers R, López de Munain A, Combarros O, Kramer JH, Kenet RO, Boxer AL, Geschwind MD, Gorno-Tempini ML, Karydas AM, Rabinovici GD, Coppola G, Geschwind DH, Miller BL. Lee SE, et al. Among authors: lopez de munain a. Alzheimer Dis Assoc Disord. 2013 Oct-Dec;27(4):302-9. doi: 10.1097/WAD.0b013e31828cc357. Alzheimer Dis Assoc Disord. 2013. PMID: 23518664 Free PMC article.
Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings.
López de Munain A, Alzualde A, Gorostidi A, Otaegui D, Ruiz-Martínez J, Indakoetxea B, Ferrer I, Pérez-Tur J, Sáenz A, Bergareche A, Barandiarán M, Poza JJ, Zabalza R, Ruiz I, Urtasun M, Fernández-Manchola I, Olasagasti B, Espinal JB, Olaskoaga J, Ruibal M, Moreno F, Carrera N, Martí Massó JF. López de Munain A, et al. Biol Psychiatry. 2008 May 15;63(10):946-52. doi: 10.1016/j.biopsych.2007.08.015. Epub 2007 Oct 22. Biol Psychiatry. 2008. PMID: 17950702
Neuropathology of Parkinson's disease with the R1441G mutation in LRRK2.
Martí-Massó JF, Ruiz-Martínez J, Bolaño MJ, Ruiz I, Gorostidi A, Moreno F, Ferrer I, López de Munain A. Martí-Massó JF, et al. Among authors: lopez de munain a. Mov Disord. 2009 Oct 15;24(13):1998-2001. doi: 10.1002/mds.22677. Mov Disord. 2009. PMID: 19735093
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: lopez de munain a. J Neuropathol Exp Neurol. 2010 Aug;69(8):789-800. doi: 10.1097/NEN.0b013e3181e85737. J Neuropathol Exp Neurol. 2010. PMID: 20613639
Prion protein codon 129 polymorphism modifies age at onset of frontotemporal dementia with the C.709-1G>A progranulin mutation.
Moreno F, Alzualde A, Camblor PM, Barandiaran M, Van Deerlin VM, Gabilondo A, Martí Massó JF, López de Munain A, Indakoetxea B. Moreno F, et al. Among authors: lopez de munain a. Alzheimer Dis Assoc Disord. 2011 Jan-Mar;25(1):93-5. doi: 10.1097/WAD.0b013e3181eff695. Alzheimer Dis Assoc Disord. 2011. PMID: 20711061 Free PMC article.
Distinctive age-related temporal cortical thinning in asymptomatic granulin gene mutation carriers.
Moreno F, Sala-Llonch R, Barandiaran M, Sánchez-Valle R, Estanga A, Bartrés-Faz D, Sistiaga A, Alzualde A, Fernández E, Martí Massó JF, López de Munain A, Indakoetxea B. Moreno F, et al. Among authors: lopez de munain a. Neurobiol Aging. 2013 May;34(5):1462-8. doi: 10.1016/j.neurobiolaging.2012.11.005. Epub 2012 Dec 4. Neurobiol Aging. 2013. PMID: 23218900
Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia.
Ruiz A, Dols-Icardo O, Bullido MJ, Pastor P, Rodríguez-Rodríguez E, López de Munain A, de Pancorbo MM, Pérez-Tur J, Alvarez V, Antonell A, López-Arrieta J, Hernández I, Tárraga L, Boada M, Lleó A, Blesa R, Frank-García A, Sastre I, Razquin C, Ortega-Cubero S, Lorenzo E, Sánchez-Juan P, Combarros O, Moreno F, Gorostidi A, Elcoroaristizabal X, Baquero M, Coto E, Sánchez-Valle R, Clarimón J; dementia genetic Spanish consortium (DEGESCO). Ruiz A, et al. Among authors: de pancorbo mm, lopez de munain a, lopez arrieta j. Neurobiol Aging. 2014 Feb;35(2):444.e1-4. doi: 10.1016/j.neurobiolaging.2013.08.011. Epub 2013 Sep 13. Neurobiol Aging. 2014. PMID: 24041969 Free article.
PGRN haploinsufficiency increased Wnt5a signaling in peripheral cells from frontotemporal lobar degeneration-progranulin mutation carriers.
Alquézar C, Esteras N, de la Encarnación A, Alzualde A, Moreno F, López de Munain A, Martín-Requero A. Alquézar C, et al. Among authors: lopez de munain a, de la encarnacion a. Neurobiol Aging. 2014 Apr;35(4):886-98. doi: 10.1016/j.neurobiolaging.2013.09.021. Epub 2013 Oct 16. Neurobiol Aging. 2014. PMID: 24139281 Free article.
359 results