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Items: 1 to 50 of 51

1.

X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia.

Blackburn PR, Lin WL, Miller DA, Lorenzo-Betancor O, Edwards ES, Zimmermann MT, Farrugia LP, Freeman WD, Soto AI, Walton RL, Klee EW, Atwal PS, Abraham RS, Billadeau DD, Ross OA, Dickson DW, Meschia JF.

J Neuropathol Exp Neurol. 2019 May 1;78(5):460-466. doi: 10.1093/jnen/nlz018.

PMID:
30990878
2.

The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru.

Velez-Pardo C, Lorenzo-Betancor O, Jimenez-Del-Rio M, Moreno S, Lopera F, Cornejo-Olivas M, Torres L, Inca-Martinez M, Mazzetti P, Cosentino C, Yearout D, Waldherr SM, Zabetian CP, Mata IF.

Parkinsonism Relat Disord. 2019 Jun;63:204-208. doi: 10.1016/j.parkreldis.2019.01.030. Epub 2019 Feb 4.

PMID:
30765263
3.

PCNT point mutations and familial intracranial aneurysms.

Lorenzo-Betancor O, Blackburn PR, Edwards E, Vázquez-do-Campo R, Klee EW, Labbé C, Hodges K, Glover P, Sigafoos AN, Soto AI, Walton RL, Doxsey S, Bober MB, Jennings S, Clark KJ, Asmann Y, Miller D, Freeman WD, Meschia J, Ross OA.

Neurology. 2018 Dec 4;91(23):e2170-e2181. doi: 10.1212/WNL.0000000000006614. Epub 2018 Nov 9. Erratum in: Neurology. 2019 Jul 30;93(5):231.

PMID:
30413633
4.

Association study between multiple system atrophy and TREM2 p.R47H.

Ogaki K, Heckman MG, Koga S, Martens YA, Labbé C, Lorenzo-Betancor O, Walton RL, Soto AI, Vargas ER, Fujioka S, Uitti RJ, van Gerpen JA, Cheshire WP, Younkin SG, Wszolek ZK, Low PA, Singer W, Bu G, Dickson DW, Ross OA.

Neurol Genet. 2018 Aug 1;4(4):e257. doi: 10.1212/NXG.0000000000000257. eCollection 2018 Aug.

5.

Age- and disease-dependent increase of the mitophagy marker phospho-ubiquitin in normal aging and Lewy body disease.

Hou X, Fiesel FC, Truban D, Castanedes Casey M, Lin WL, Soto AI, Tacik P, Rousseau LG, Diehl NN, Heckman MG, Lorenzo-Betancor O, Ferrer I, Arbelo JM, Steele JC, Farrer MJ, Cornejo-Olivas M, Torres L, Mata IF, Graff-Radford NR, Wszolek ZK, Ross OA, Murray ME, Dickson DW, Springer W.

Autophagy. 2018;14(8):1404-1418. doi: 10.1080/15548627.2018.1461294. Epub 2018 Jul 28.

6.

Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population.

Diez-Fairen M, Benitez BA, Ortega-Cubero S, Lorenzo-Betancor O, Cruchaga C, Lorenzo E, Samaranch L, Carcel M, Obeso JA, Rodriguez-Oroz MC, Aguilar M, Coria F, Pastor MA, Pastor P.

Neurobiol Aging. 2018 Oct;70:325.e1-325.e5. doi: 10.1016/j.neurobiolaging.2018.05.008. Epub 2018 May 14.

PMID:
29887346
7.

Multiple system atrophy and apolipoprotein E.

Ogaki K, Martens YA, Heckman MG, Koga S, Labbé C, Lorenzo-Betancor O, Wernick AI, Walton RL, Soto AI, Vargas ER, Nielsen HM, Fujioka S, Kanekiyo T, Uitti RJ, van Gerpen JA, Cheshire WP, Wszolek ZK, Low PA, Singer W, Dickson DW, Bu G, Ross OA.

Mov Disord. 2018 Apr;33(4):647-650. doi: 10.1002/mds.27297. Epub 2018 Feb 14.

8.

Target-enriched sequencing of chromosome 17q21.31 in sporadic tauopathies reveals no candidate variants.

Razquin C, Ortega-Cubero S, Rojo-Bustamante E, Diez-Fairen M, Lorenzo E, Alonso E, Ezquerra M, Ross OA, Carcel M, Lorenzo-Betancor O, Soto AI, Burgess JD, Ertekin-Taner N, Dickson DW, Pastor MA, Tolosa E, Pastor P.

Neurobiol Aging. 2018 Jun;66:177.e7-177.e10. doi: 10.1016/j.neurobiolaging.2017.12.026. Epub 2018 Jan 11.

PMID:
29398119
9.

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.

Brain. 2016 Dec;139(Pt 12):3163-3169. Epub 2016 Oct 20.

10.

LRRK2 variation and dementia with Lewy bodies.

Heckman MG, Soto-Ortolaza AI, Contreras MYS, Murray ME, Pedraza O, Diehl NN, Walton R, Labbé C, Lorenzo-Betancor O, Uitti RJ, van Gerpen J, Ertekin-Taner N, Smith GE, Kantarci K, Savica R, Jones DT, Graff-Radford J, Knopman DS, Lowe VJ, Jack CR Jr, Petersen RC, Parisi JE, Rademakers R, Wszolek ZK, Graff-Radford NR, Ferman TJ, Dickson DW, Boeve BF, Ross OA.

Parkinsonism Relat Disord. 2016 Oct;31:98-103. doi: 10.1016/j.parkreldis.2016.07.015. Epub 2016 Jul 29.

11.

RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies.

Hodges K, Brewer SS, Labbé C, Soto-Ortolaza AI, Walton RL, Strongosky AJ, Uitti RJ, van Gerpen JA, Ertekin-Taner N, Kantarci K, Lowe VJ, Parisi JE, Savica R, Graff-Radford J, Jones DT, Knopman DS, Petersen RC, Murray ME, Graff-Radford NR, Ferman TJ, Dickson DW, Wszolek ZK, Boeve BF, Ross OA, Lorenzo-Betancor O.

Neurobiol Aging. 2016 Sep;45:107-108. doi: 10.1016/j.neurobiolaging.2016.03.021. Epub 2016 Mar 24.

12.

TREM2 p.R47H substitution is not associated with dementia with Lewy bodies.

Walton RL, Soto-Ortolaza AI, Murray ME, Lorenzo-Betancor O, Ogaki K, Heckman MG, Rayaprolu S, Rademakers R, Ertekin-Taner N, Uitti RJ, van Gerpen JA, Wszolek ZK, Smith GE, Kantarci K, Lowe VJ, Parisi JE, Jones DT, Savica R, Graff-Radford J, Knopman DS, Petersen RC, Graff-Radford NR, Ferman TJ, Dickson DW, Boeve BF, Ross OA, Labbé C.

Neurol Genet. 2016 Jul 14;2(4):e85. doi: 10.1212/NXG.0000000000000085. eCollection 2016 Aug.

13.

A family study of DRD3 rs6280, SLC1A2 rs3794087 and MAPT rs1052553 variants in essential tremor.

Jiménez-Jiménez FJ, García-Martín E, Alonso-Navarro H, Lorenzo-Betancor O, Ortega-Cubero S, Pastor P, Calleja M, Agúndez JA.

Neurol Res. 2016 Oct;38(10):880-7. doi: 10.1080/01616412.2016.1210355. Epub 2016 Jul 21.

PMID:
27456607
14.

MAPT haplotype diversity in multiple system atrophy.

Labbé C, Heckman MG, Lorenzo-Betancor O, Murray ME, Ogaki K, Soto-Ortolaza AI, Walton RL, Fujioka S, Koga S, Uitti RJ, van Gerpen JA, Petersen RC, Graff-Radford NR, Younkin SG, Boeve BF, Cheshire WP Jr, Low PA, Sandroni P, Coon EA, Singer W, Wszolek ZK, Dickson DW, Ross OA.

Parkinsonism Relat Disord. 2016 Sep;30:40-5. doi: 10.1016/j.parkreldis.2016.06.010. Epub 2016 Jun 16.

15.

Epigenetic regulation in Parkinson's disease.

Labbé C, Lorenzo-Betancor O, Ross OA.

Acta Neuropathol. 2016 Oct;132(4):515-30. doi: 10.1007/s00401-016-1590-9. Epub 2016 Jun 29. Review.

16.

MAPT haplotype H1G is associated with increased risk of dementia with Lewy bodies.

Labbé C, Heckman MG, Lorenzo-Betancor O, Soto-Ortolaza AI, Walton RL, Murray ME, Allen M, Uitti RJ, Wszolek ZK, Smith GE, Kantarci K, Knopman DS, Lowe VJ, Jack CR Jr, Ertekin-Taner N, Hassan A, Savica R, Petersen RC, Parisi JE, Maraganore DM, Graff-Radford NR, Ferman TJ, Boeve BF, Dickson DW, Ross OA.

Alzheimers Dement. 2016 Dec;12(12):1297-1304. doi: 10.1016/j.jalz.2016.05.002. Epub 2016 Jun 7. Review.

17.

Rare variants in MC1R/TUBB3 exon 1 are not associated with Parkinson's disease.

Lorenzo-Betancor O, Wszolek ZK, Ross OA.

Ann Neurol. 2016 Feb;79(2):331. doi: 10.1002/ana.24581. Epub 2016 Jan 19. No abstract available.

18.

Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders.

Ogaki K, Koga S, Heckman MG, Fiesel FC, Ando M, Labbé C, Lorenzo-Betancor O, Moussaud-Lamodière EL, Soto-Ortolaza AI, Walton RL, Strongosky AJ, Uitti RJ, McCarthy A, Lynch T, Siuda J, Opala G, Rudzinska M, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Puschmann A, Nishioka K, Funayama M, Hattori N, Parisi JE, Petersen RC, Graff-Radford NR, Boeve BF, Springer W, Wszolek ZK, Dickson DW, Ross OA.

Neurology. 2015 Dec 8;85(23):2016-25. doi: 10.1212/WNL.0000000000002170. Epub 2015 Nov 11.

19.

Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies.

Labbé C, Ogaki K, Lorenzo-Betancor O, Soto-Ortolaza AI, Walton RL, Rayaprolu S, Fujioka S, Murray ME, Heckman MG, Puschmann A, McCarthy A, Lynch T, Siuda J, Opala G, Rudzinska M, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Sanotsky Y, Rektorová I, McLean PJ, Rademakers R, Ertekin-Taner N, Hassan A, Ahlskog JE, Boeve BF, Petersen RC, Maraganore DM, Adler CH, Ferman TJ, Parisi JE, Graff-Radford NR, Uitti RJ, Wszolek ZK, Dickson DW, Ross OA.

Neurology. 2015 Nov 10;85(19):1680-6. doi: 10.1212/WNL.0000000000001946. Epub 2015 Sep 2. Erratum in: Neurology. 2015 Nov 10;85(19):1728.

20.

DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients.

Lorenzo-Betancor O, Ogaki K, Soto-Ortolaza AI, Labbe C, Walton RL, Strongosky AJ, van Gerpen JA, Uitti RJ, McLean PJ, Springer W, Siuda J, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, McCarthy A, Lynch T, Puschmann A, Rektorova I, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Ferman TJ, Boeve BF, Petersen RC, Parisi JE, Graff-Radford NR, Dickson DW, Wszolek ZK, Ross OA.

Eur J Neurol. 2015 Sep;22(9):1323-5. doi: 10.1111/ene.12770.

21.

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.

Hum Mol Genet. 2015 Oct 15;24(20):5677-86. doi: 10.1093/hmg/ddv281. Epub 2015 Jul 17.

22.

(Patho-)physiological relevance of PINK1-dependent ubiquitin phosphorylation.

Fiesel FC, Ando M, Hudec R, Hill AR, Castanedes-Casey M, Caulfield TR, Moussaud-Lamodière EL, Stankowski JN, Bauer PO, Lorenzo-Betancor O, Ferrer I, Arbelo JM, Siuda J, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Dickson DW, Springer W.

EMBO Rep. 2015 Sep;16(9):1114-30. doi: 10.15252/embr.201540514. Epub 2015 Jul 10.

23.

Heme Oxygenase 1 and 2 Common Genetic Variants and Risk for Essential Tremor.

Ayuso P, Agúndez JA, 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.

Medicine (Baltimore). 2015 Jun;94(24):e968. doi: 10.1097/MD.0000000000000968.

24.

Exonic Re-Sequencing of the Chromosome 2q24.3 Parkinson's Disease Locus.

Labbé C, Ogaki K, Lorenzo-Betancor O, Carrasquillo MM, Heckman MG, McCarthy A, Soto-Ortolaza AI, Walton RL, Lynch T, Siuda J, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Dickson DW, Uitti RJ, Wszolek ZK, Ross OA.

PLoS One. 2015 Jun 19;10(6):e0128586. doi: 10.1371/journal.pone.0128586. eCollection 2015.

25.

Automated neuromelanin imaging as a diagnostic biomarker for Parkinson's disease.

Castellanos G, Fernández-Seara MA, Lorenzo-Betancor O, Ortega-Cubero S, Puigvert M, Uranga J, Vidorreta M, Irigoyen J, Lorenzo E, Muñoz-Barrutia A, Ortiz-de-Solorzano C, Pastor P, Pastor MA.

Mov Disord. 2015 Jun;30(7):945-52. doi: 10.1002/mds.26201. Epub 2015 Mar 15.

PMID:
25772492
26.

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.

Eur J Hum Genet. 2015 Oct;23(10):1328-33. doi: 10.1038/ejhg.2014.300. Epub 2015 Jan 21.

27.

TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study.

Ortega-Cubero S, Lorenzo-Betancor O, Lorenzo E, Agúndez JA, Jiménez-Jiménez FJ, Ross OA, Wurster I, Mielke C, Lin JJ, Coria F, Clarimon J, Ezquerra M, Brighina L, Annesi G, Alonso-Navarro H, García-Martin E, Gironell A, Marti MJ, Yueh KC, Wszolek ZK, Sharma M, Berg D, Krüger R, Pastor MA, Pastor P.

Parkinsonism Relat Disord. 2015 Mar;21(3):306-9. doi: 10.1016/j.parkreldis.2014.12.010. Epub 2014 Dec 24.

28.

Analysis of nuclear export sequence regions of FUS-Related RNA-binding proteins in essential tremor.

Lorenzo-Betancor O, Ogaki K, Soto-Ortolaza A, Labbé C, Vilariño-Güell C, Rajput A, Rajput AH, Pastor P, Ortega S, Lorenzo E, Strongosky AJ, van Gerpen JA, Uitti RJ, Wszolek ZK, Ross OA.

PLoS One. 2014 Nov 6;9(11):e111989. doi: 10.1371/journal.pone.0111989. eCollection 2014.

29.

Analysis of COQ2 gene in multiple system atrophy.

Ogaki K, Fujioka S, Heckman MG, Rayaprolu S, Soto-Ortolaza AI, Labbé C, Walton RL, Lorenzo-Betancor O, Wang X, Asmann Y, Rademakers R, Graff-Radford N, Uitti R, Cheshire WP, Wszolek ZK, Dickson DW, Ross OA.

Mol Neurodegener. 2014 Nov 5;9:44. doi: 10.1186/1750-1326-9-44.

30.

An association study between Heme oxygenase-1 genetic variants and Parkinson's disease.

Ayuso P, Martínez C, Pastor P, Lorenzo-Betancor O, Luengo A, Jiménez-Jiménez FJ, Alonso-Navarro H, Agúndez JA, García-Martín E.

Front Cell Neurosci. 2014 Sep 24;8:298. doi: 10.3389/fncel.2014.00298. eCollection 2014.

31.

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.

Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, Hsu S, Choi J, Ryten M, Sassi C, Bras J, Gibbs RJ, Hernandez DG, Lupton MK, Powell J, Forabosco P, Ridge PG, Corcoran CD, Tschanz JT, Norton MC, Munger RG, Schmutz C, Leary M, Demirci FY, Bamne MN, Wang X, Lopez OL, Ganguli M, Medway C, Turton J, Lord J, Braae A, Barber I, Brown K; Alzheimer's Research UK (ARUK) Consortium, Pastor P, Lorenzo-Betancor O, Brkanac Z, Scott E, Topol E, Morgan K, Rogaeva E, Singleton A, Hardy J, Kamboh MI, George-Hyslop PS, Cairns N, Morris JC, Kauwe JSK, Goate AM.

Nature. 2014 Jan 23;505(7484):550-554. doi: 10.1038/nature12825. Epub 2013 Dec 11.

32.

No association of the SLC1A2 rs3794087 allele with risk for essential tremor in the Spanish population.

García-Martín E, Martínez C, Alonso-Navarro H, Benito-León J, Lorenzo-Betancor O, Pastor P, Ortega-Cubero S, López-Alburquerque T, Agúndez JA, Jiménez-Jiménez FJ.

Pharmacogenet Genomics. 2013 Nov;23(11):587-90. doi: 10.1097/FPC.0b013e328364db9d.

PMID:
23949322
33.

Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis.

McNeill A, Wu RM, Tzen KY, Aguiar PC, Arbelo JM, Barone P, Bhatia K, Barsottini O, Bonifati V, Bostantjopoulou S, Bressan R, Cossu G, Cortelli P, Felicio A, Ferraz HB, Herrera J, Houlden H, Hoexter M, Isla C, Lees A, Lorenzo-Betancor O, Mencacci NE, Pastor P, Pappata S, Pellecchia MT, Silveria-Moriyama L, Varrone A, Foltynie T, Schapira AH.

PLoS One. 2013 Jul 23;8(7):e69190. doi: 10.1371/journal.pone.0069190. Print 2013.

34.

Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans.

Ortega-Cubero S, Lorenzo-Betancor O, Lorenzo E, Alonso E, Coria F, Pastor MA, Fernández-Santiago R, Martí MJ, Ezquerra M, Valldeoriola F, Compta Y, Tolosa E, Agundez JA, Jiménez-Jiménez FJ, Gironell A, Clarimon J, de Castro P, García-Martín E, Alonso-Navarro H, Pastor P.

Neurobiol Aging. 2013 Oct;34(10):2441.e9-2441.e11. doi: 10.1016/j.neurobiolaging.2013.04.024. Epub 2013 May 31.

PMID:
23731953
35.

Update on genetics of essential tremor.

Jiménez-Jiménez FJ, Alonso-Navarro H, García-Martín E, Lorenzo-Betancor O, Pastor P, Agúndez JA.

Acta Neurol Scand. 2013 Dec;128(6):359-71. doi: 10.1111/ane.12148. Epub 2013 May 18. Review.

PMID:
23682623
36.

LINGO1 rs9652490 and rs11856808 polymorphisms are not associated with risk for multiple sclerosis.

García-Martín E, Lorenzo-Betancor O, Martínez C, Pastor P, Benito-León J, Millán-Pascual J, Calleja P, Díaz-Sánchez M, Pisa D, Turpín-Fenoll L, Alonso-Navarro H, Ayuso-Peralta L, Torrecillas D, Lorenzo E, Plaza-Nieto JF, Agúndez JA, Jiménez-Jiménez FJ.

BMC Neurol. 2013 Apr 10;13:34. doi: 10.1186/1471-2377-13-34.

37.

Mutational screening of PARKIN identified a 3' UTR variant (rs62637702) associated with Parkinson's disease.

de Mena L, Samaranch LL, Coto E, Cardo LF, Ribacoba R, Lorenzo-Betancor O, Pastor P, Wang L, Irigoyen J, Mata IF, Díaz M, Moris G, Menéndez M, Corao AI, Lorenzo E, Alvarez V.

J Mol Neurosci. 2013 Jun;50(2):264-9. doi: 10.1007/s12031-012-9942-y. Epub 2012 Dec 30.

PMID:
23275044
38.

Common variation in the LRRK2 gene is a risk factor for Parkinson's disease.

Mata IF, Checkoway H, Hutter CM, Samii A, Roberts JW, Kim HM, Agarwal P, Alvarez V, Ribacoba R, Pastor P, Lorenzo-Betancor O, Infante J, Sierra M, Gómez-Garre P, Mir P, Ritz B, Rhodes SL, Colcher A, Van Deerlin V, Chung KA, Quinn JF, Yearout D, Martinez E, Farin FM, Wan JY, Edwards KL, Zabetian CP.

Mov Disord. 2012 Dec;27(14):1822-5. doi: 10.1002/mds.25226. Epub 2012 Oct 31.

39.

H1-MAPT and the risk for familial essential tremor.

García-Martín E, Martínez C, Alonso-Navarro H, Benito-León J, Lorenzo-Betancor O, Pastor P, López-Alburquerque T, Samaranch L, Lorenzo E, Agúndez JA, Jiménez-Jiménez FJ.

PLoS One. 2012;7(7):e41581. doi: 10.1371/journal.pone.0041581. Epub 2012 Jul 23.

40.

Age at onset in LRRK2-associated PD is modified by SNCA variants.

Botta-Orfila T, Ezquerra M, Pastor P, Fernández-Santiago R, Pont-Sunyer C, Compta Y, Lorenzo-Betancor O, Samaranch L, Martí MJ, Valldeoriola F, Calopa M, Fernández M, Aguilar M, de Fabregas O, Hernández-Vara J, Tolosa E.

J Mol Neurosci. 2012 Sep;48(1):245-7. doi: 10.1007/s12031-012-9820-7. Epub 2012 Jun 6.

PMID:
22669510
41.

LINGO1 and risk for essential tremor: results of a meta-analysis of rs9652490 and rs11856808.

Jiménez-Jiménez FJ, García-Martín E, Lorenzo-Betancor O, Pastor P, Alonso-Navarro H, Agúndez JA.

J Neurol Sci. 2012 Jun 15;317(1-2):52-7. doi: 10.1016/j.jns.2012.02.030. Epub 2012 Mar 17.

PMID:
22425540
42.

A search for SNCA 3' UTR variants identified SNP rs356165 as a determinant of disease risk and onset age in Parkinson's disease.

Cardo LF, Coto E, de Mena L, Ribacoba R, Lorenzo-Betancor O, Pastor P, Samaranch L, Mata IF, Díaz M, Moris G, Menéndez M, Corao AI, Alvarez V.

J Mol Neurosci. 2012 Jul;47(3):425-30. doi: 10.1007/s12031-011-9669-1. Epub 2011 Nov 11.

PMID:
22076805
43.

LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.

Lorenzo-Betancor O, Samaranch L, Ezquerra M, Tolosa E, Lorenzo E, Irigoyen J, Gaig C, Pastor MA, Soto-Ortolaza AI, Ross OA, Rodríguez-Oroz MC, Valldeoriola F, Martí MJ, Luquin MR, Perez-Tur J, Burguera JA, Obeso JA, Pastor P.

Mov Disord. 2012 Jan;27(1):146-51. doi: 10.1002/mds.23968. Epub 2011 Oct 28.

PMID:
22038903
44.

LINGO1 rs9652490 and rs11856808 are not associated with the risk of Parkinson's disease: results of a meta-analysis.

Agúndez JA, Lorenzo-Betancor O, Pastor P, García-Martín E, Luengo A, Alonso-Navarro H, Jiménez-Jiménez FJ.

Parkinsonism Relat Disord. 2012 Jun;18(5):657-9. doi: 10.1016/j.parkreldis.2011.09.005. Epub 2011 Sep 28. No abstract available.

PMID:
21955595
45.

A polymorphism located at an ATG transcription start site of the heme oxygenase-2 gene is associated with classical Parkinson's disease.

Ayuso P, Martínez C, Lorenzo-Betancor O, Pastor P, Luengo A, Jiménez-Jiménez FJ, Alonso-Navarro H, Villalba MT, Agúndez JA, García-Martín E.

Pharmacogenet Genomics. 2011 Sep;21(9):565-71. doi: 10.1097/FPC.0b013e328348f729.

PMID:
21709601
46.

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.

Mov Disord. 2011 Mar;26(4):722-7. doi: 10.1002/mds.23452. Epub 2011 Jan 4.

PMID:
21506150
47.

Replication of MAPT and SNCA, but not PARK16-18, as susceptibility genes for Parkinson's disease.

Mata IF, Yearout D, Alvarez V, Coto E, de Mena L, Ribacoba R, Lorenzo-Betancor O, Samaranch L, Pastor P, Cervantes S, Infante J, Garcia-Gorostiaga I, Sierra M, Combarros O, Snapinn KW, Edwards KL, Zabetian CP.

Mov Disord. 2011 Apr;26(5):819-23. doi: 10.1002/mds.23642. Epub 2011 Mar 21.

48.

Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor.

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