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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.
Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia.
Nobile C, Hinzmann B, Scannapieco P, Siebert R, Zimbello R, Perez-Tur J, Sarafidou T, Moschonas NK, French L, Deloukas P, Ciccodicola A, Gesk S, Poza JJ, Lo Nigro C, Seri M, Schlegelberger B, Rosenthal A, Valle G, Lopez de Munain A, Tassinari CA, Michelucci R. Nobile C, et al. Gene. 2002 Jan 9;282(1-2):87-94. doi: 10.1016/s0378-1119(01)00846-0. Gene. 2002. PMID: 11814680
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
Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families.
Michelucci R, Poza JJ, Sofia V, de Feo MR, Binelli S, Bisulli F, Scudellaro E, Simionati B, Zimbello R, D'Orsi G, Passarelli D, Avoni P, Avanzini G, Tinuper P, Biondi R, Valle G, Mautner VF, Stephani U, Tassinari CA, Moschonas NK, Siebert R, Lopez de Munain A, Perez-Tur J, Nobile C. Michelucci R, et al. Epilepsia. 2003 Oct;44(10):1289-97. doi: 10.1046/j.1528-1157.2003.20003.x. Epilepsia. 2003. PMID: 14510822 Free article.
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.
143 results