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Page 1
Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy.
Morante-Redolat JM, Gorostidi-Pagola A, Piquer-Sirerol S, Sáenz A, Poza JJ, Galán J, Gesk S, Sarafidou T, Mautner VF, Binelli S, Staub E, Hinzmann B, French L, Prud'homme JF, Passarelli D, Scannapieco P, Tassinari CA, Avanzini G, Martí-Massó JF, Kluwe L, Deloukas P, Moschonas NK, Michelucci R, Siebert R, Nobile C, Pérez-Tur J, López de Munain A. Morante-Redolat JM, et al. Among authors: lopez de munain a. Hum Mol Genet. 2002 May 1;11(9):1119-28. doi: 10.1093/hmg/11.9.1119. Hum Mol Genet. 2002. PMID: 11978770
Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease.
Paisán-Ruíz C, Jain S, Evans EW, Gilks WP, Simón J, van der Brug M, López de Munain A, Aparicio S, Gil AM, Khan N, Johnson J, Martinez JR, Nicholl D, Martí Carrera I, Pena AS, de Silva R, Lees A, Martí-Massó JF, Pérez-Tur J, Wood NW, Singleton AB. Paisán-Ruíz C, et al. Among authors: lopez de munain a, de silva r. Neuron. 2004 Nov 18;44(4):595-600. doi: 10.1016/j.neuron.2004.10.023. Neuron. 2004. PMID: 15541308 Free 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.
363 results