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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. Hum Mol Genet. 2002 May 1;11(9):1119-28. doi: 10.1093/hmg/11.9.1119. Hum Mol Genet. 2002. PMID: 11978770
A genomic screen of Spanish multiple sclerosis patients reveals multiple loci associated with the disease.
Goertsches R, Villoslada P, Comabella M, Montalban X, Navarro A, de la Concha EG, Arroyo R, Lopez de Munain A, Otaegui D, Palacios R, Perez-Tur J, Jonasdottir A, Benediktsson K, Fossdal R, Sawcer S, Setakis E, Compston A; Spanish MS Genetics Group. Goertsches R, et al. J Neuroimmunol. 2003 Oct;143(1-2):124-8. doi: 10.1016/j.jneuroim.2003.08.026. J Neuroimmunol. 2003. PMID: 14575929
Mitochondrial polymporphisms in Parkinson's Disease.
Otaegui D, Paisán C, Sáenz A, Martí I, Ribate M, Martí-Massó JF, Pérez-Tur J, López de Munain A. Otaegui D, et al. Neurosci Lett. 2004 Nov 11;370(2-3):171-4. doi: 10.1016/j.neulet.2004.08.012. Neurosci Lett. 2004. PMID: 15488317
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. Neuron. 2004 Nov 18;44(4):595-600. doi: 10.1016/j.neuron.2004.10.023. Neuron. 2004. PMID: 15541308 Free article.
Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy.
Ayerdi-Izquierdo A, Stavrides G, Sellés-Martínez JJ, Larrea L, Bovo G, López de Munain A, Bisulli F, Martí-Massó JF, Michelucci R, Poza JJ, Tinuper P, Stephani U, Striano P, Striano S, Staub E, Sarafidou T, Hinzmann B, Moschonas N, Siebert R, Deloukas P, Nobile C, Pérez-Tur J. Ayerdi-Izquierdo A, et al. Epilepsy Res. 2006 Aug;70(2-3):118-26. doi: 10.1016/j.eplepsyres.2006.03.008. Epub 2006 May 16. Epilepsy Res. 2006. PMID: 16707245 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
147 results