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Page 1
Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease.
Schulte EC, Fukumori A, Mollenhauer B, Hor H, Arzberger T, Perneczky R, Kurz A, Diehl-Schmid J, Hüll M, Lichtner P, Eckstein G, Zimprich A, Haubenberger D, Pirker W, Brücke T, Bereznai B, Molnar MJ, Lorenzo-Betancor O, Pastor P, Peters A, Gieger C, Estivill X, Meitinger T, Kretzschmar HA, Trenkwalder C, Haass C, Winkelmann J. Schulte EC, et al. Eur J Hum Genet. 2015 Oct;23(10):1328-33. doi: 10.1038/ejhg.2014.300. Epub 2015 Jan 21. Eur J Hum Genet. 2015. PMID: 25604855 Free PMC article.
LINGO1 gene analysis in Parkinson's disease phenotypes.
Lorenzo-Betancor O, Samaranch L, García-Martín E, Cervantes S, Agúndez JA, Jiménez-Jiménez FJ, Alonso-Navarro H, Luengo A, Coria F, Lorenzo E, Irigoyen J, Pastor P; Iberian Parkinson's Disease Genetics Study Group Researchers. Lorenzo-Betancor O, et al. Mov Disord. 2011 Mar;26(4):722-7. doi: 10.1002/mds.23452. Epub 2011 Jan 4. Mov Disord. 2011. PMID: 21506150
Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.
Hor H, Francescatto L, Bartesaghi L, Ortega-Cubero S, Kousi M, Lorenzo-Betancor O, Jiménez-Jiménez FJ, Gironell A, Clarimón J, Drechsel O, Agúndez JA, Kenzelmann Broz D, Chiquet-Ehrismann R, Lleó A, Coria F, García-Martin E, Alonso-Navarro H, Martí MJ, Kulisevsky J, Hor CN, Ossowski S, Chrast R, Katsanis N, Pastor P, Estivill X. Hor H, et al. Hum Mol Genet. 2015 Oct 15;24(20):5677-86. doi: 10.1093/hmg/ddv281. Epub 2015 Jul 17. Hum Mol Genet. 2015. PMID: 26188006 Free PMC article.
Heme Oxygenase 1 and 2 Common Genetic Variants and Risk for Essential Tremor.
Ayuso P, Agúndez JAG, Alonso-Navarro H, Martínez C, Benito-León J, Ortega-Cubero S, Lorenzo-Betancor O, Pastor P, López-Alburquerque T, García-Martín E, Jiménez-Jiménez FJ. Ayuso P, et al. Medicine (Baltimore). 2015 Jun;94(24):e968. doi: 10.1097/MD.0000000000000968. Medicine (Baltimore). 2015. PMID: 26091465 Free PMC article.
Genome-wide association study in essential tremor identifies three new loci.
Müller SH, Girard SL, Hopfner F, Merner ND, Bourassa CV, Lorenz D, Clark LN, Tittmann L, Soto-Ortolaza AI, Klebe S, Hallett M, Schneider SA, Hodgkinson CA, Lieb W, Wszolek ZK, Pendziwiat M, Lorenzo-Betancor O, Poewe W, Ortega-Cubero S, Seppi K, Rajput A, Hussl A, Rajput AH, Berg D, Dion PA, Wurster I, Shulman JM, Srulijes K, Haubenberger D, Pastor P, Vilariño-Güell C, Postuma RB, Bernard G, Ladwig KH, Dupré N, Jankovic J, Strauch K, Panisset M, Winkelmann J, Testa CM, Reischl E, Zeuner KE, Ross OA, Arzberger T, Chouinard S, Deuschl G, Louis ED, Kuhlenbäumer G, Rouleau GA. Müller SH, et al. Brain. 2016 Dec;139(Pt 12):3163-3169. doi: 10.1093/brain/aww242. Epub 2016 Oct 20. Brain. 2016. PMID: 27797806 Free PMC article.
58 results