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Best matches for Vilariño-Güell C[au]:

Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis. Sadovnick AD et al. Hum Mutat. (2017)

VPS35 and DNAJC13 disease-causing variants in essential tremor. Rajput A et al. Eur J Hum Genet. (2015)

Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism. Puschmann A et al. Brain. (2017)

Search results

Items: 1 to 50 of 101

1.

Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease.

Vilariño-Güell C, Zimprich A, Martinelli-Boneschi F, Herculano B, Wang Z, Matesanz F, Urcelay E, Vandenbroeck K, Leyva L, Gris D, Massaad C, Quandt JA, Traboulsee AL, Encarnacion M, Bernales CQ, Follett J, Yee IM, Criscuoli MG, Deutschländer A, Reinthaler EM, Zrzavy T, Mascia E, Zauli A, Esposito F, Alcina A, Izquierdo G, Espino-Paisán L, Mena J, Antigüedad A, Urbaneja-Romero P, Ortega-Pinazo J, Song W, Sadovnick AD.

PLoS Genet. 2019 Jun 6;15(6):e1008180. doi: 10.1371/journal.pgen.1008180. eCollection 2019 Jun.

2.

TPP2 mutation associated with sterile brain inflammation mimicking MS.

Reinthaler EM, Graf E, Zrzavy T, Wieland T, Hotzy C, Kopecky C, Pferschy S, Schmied C, Leutmezer F, Keilani M, Lill CM, Hoffjan S, Epplen JT, Zettl UK, Hecker M, Deutschländer A, Meuth SG, Ahram M, Mustafa B, El-Khateeb M, Vilariño-Güell C, Sadovnick AD, Zimprich F, Tomkinson B, Strom T, Kristoferitsch W, Lassmann H, Zimprich A.

Neurol Genet. 2018 Nov 13;4(6):e285. doi: 10.1212/NXG.0000000000000285. eCollection 2018 Dec.

3.

Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases.

Schmouth JF, Houle G, Ambalavanan A, Leblond CS, Spiegelman D, Laurent SB, Bourassa CV, Panisset M, Chouinard S, Dupré N, Vilariño-Güell C, Rajput A, Dion PA, Rouleau GA.

Mol Neurobiol. 2019 Jun;56(6):4317-4321. doi: 10.1007/s12035-018-1369-1. Epub 2018 Oct 12.

PMID:
30315477
4.

Analysis of Canadian multiple sclerosis patients does not support a role for FKBP6 in disease.

Vilariño-Güell C, Encarnacion M, Bernales CQ, Sadovnick AD.

Mult Scler. 2019 Jun;25(7):1011-1013. doi: 10.1177/1352458518803789. Epub 2018 Oct 9. No abstract available.

PMID:
30298791
5.

Exome sequencing study in patients with multiple sclerosis reveals variants associated with disease course.

Gil-Varea E, Urcelay E, Vilariño-Güell C, Costa C, Midaglia L, Matesanz F, Rodríguez-Antigüedad A, Oksenberg J, Espino-Paisan L, Dessa Sadovnick A, Saiz A, Villar LM, García-Merino JA, Ramió-Torrentà L, Triviño JC, Quintana E, Robles R, Sánchez-López A, Arroyo R, Alvarez-Cermeño JC, Vidal-Jordana A, Malhotra S, Fissolo N, Montalban X, Comabella M.

J Neuroinflammation. 2018 Sep 14;15(1):265. doi: 10.1186/s12974-018-1307-1.

6.

Whole Exome Sequencing of an Exceptional Longevity Cohort.

Nygaard HB, Erson-Omay EZ, Wu X, Kent BA, Bernales CQ, Evans DM, Farrer MJ, Vilariño-Güell C, Strittmatter SM.

J Gerontol A Biol Sci Med Sci. 2018 May 10. doi: 10.1093/gerona/gly098. [Epub ahead of print]

PMID:
29750252
7.

No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor.

Houle G, Ambalavanan A, Schmouth JF, Leblond CS, Spiegelman D, Laurent SB, Bourassa CV, Grayson C, Panisset M, Chouinard S, Dupré N, Vilariño-Güell C, Rajput A, Girard SL, Dion PA, Rouleau GA.

Neurol Genet. 2017 Oct 19;3(5):e195. doi: 10.1212/NXG.0000000000000195. eCollection 2017 Oct.

8.

Analysis of NOD-like receptor NLRP1 in multiple sclerosis families.

Bernales CQ, Encarnacion M, Criscuoli MG, Yee IM, Traboulsee AL, Sadovnick AD, Vilariño-Güell C.

Immunogenetics. 2018 Mar;70(3):205-207. doi: 10.1007/s00251-017-1034-2. Epub 2017 Oct 7.

PMID:
28988323
9.

Genetic modifiers of multiple sclerosis progression, severity and onset.

Sadovnick AD, Traboulsee AL, Zhao Y, Bernales CQ, Encarnacion M, Ross JP, Yee IM, Criscuoli MG, Vilariño-Güell C.

Clin Immunol. 2017 Jul;180:100-105. doi: 10.1016/j.clim.2017.05.009. Epub 2017 May 10.

PMID:
28501589
10.

Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder.

Puschmann A, Fiesel FC, Caulfield TR, Hudec R, Ando M, Truban D, Hou X, Ogaki K, Heckman MG, James ED, Swanberg M, Jimenez-Ferrer I, Hansson O, Opala G, Siuda J, Boczarska-Jedynak M, Friedman A, Koziorowski D, Rudzinska-Bar M, Aasly JO, Lynch T, Mellick GD, Mohan M, Silburn PA, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Springer W.

Brain. 2017 Jun 1;140(6):e33. doi: 10.1093/brain/awx077. No abstract available.

11.

Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.

Traboulsee AL, Sadovnick AD, Encarnacion M, Bernales CQ, Yee IM, Criscuoli MG, Vilariño-Güell C.

Hum Genet. 2017 Jun;136(6):705-714. doi: 10.1007/s00439-017-1784-9. Epub 2017 Mar 23.

PMID:
28337550
12.

Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis.

Sadovnick AD, Gu BJ, Traboulsee AL, Bernales CQ, Encarnacion M, Yee IM, Criscuoli MG, Huang X, Ou A, Milligan CJ, Petrou S, Wiley JS, Vilariño-Güell C.

Hum Mutat. 2017 Jun;38(6):736-744. doi: 10.1002/humu.23218. Epub 2017 Apr 13.

13.

Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population.

Houle G, Schmouth JF, Leblond CS, Ambalavanan A, Spiegelman D, Laurent SB, Bourassa CV, Panisset M, Chouinard S, Dupré N, Vilariño-Güell C, Rajput A, Dion PA, Rouleau GA.

Mov Disord. 2017 Feb;32(2):292-295. doi: 10.1002/mds.26753. Epub 2017 Feb 3.

PMID:
28158909
14.

Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism.

Puschmann A, Fiesel FC, Caulfield TR, Hudec R, Ando M, Truban D, Hou X, Ogaki K, Heckman MG, James ED, Swanberg M, Jimenez-Ferrer I, Hansson O, Opala G, Siuda J, Boczarska-Jedynak M, Friedman A, Koziorowski D, Rudzińska-Bar M, Aasly JO, Lynch T, Mellick GD, Mohan M, Silburn PA, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Springer W.

Brain. 2017 Jan;140(1):98-117. doi: 10.1093/brain/aww261. Epub 2016 Nov 2. Erratum in: Brain. 2017 Jun 1;140(6):e37.

15.

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.

16.

Nuclear Receptor NR1H3 in Familial Multiple Sclerosis.

Wang Z, Sadovnick AD, Traboulsee AL, Ross JP, Bernales CQ, Encarnacion M, Yee IM, de Lemos M, Greenwood T, Lee JD, Wright G, Ross CJ, Zhang S, Song W, Vilariño-Güell C.

Neuron. 2016 Oct 19;92(2):555. doi: 10.1016/j.neuron.2016.09.028. No abstract available.

17.

Case-Control Studies Are Not Familial Studies.

Wang Z, Sadovnick AD, Traboulsee AL, Ross JP, Bernales CQ, Encarnacion M, Yee IM, de Lemos M, Greenwood T, Lee JD, Wright G, Ross CJ, Zhang S, Song W, Vilariño-Güell C.

Neuron. 2016 Oct 19;92(2):339-341. doi: 10.1016/j.neuron.2016.09.053.

18.

Editorial Note to:Nuclear Receptor NR1H3 in Familial Multiple Sclerosis.

Wang Z, Sadovnick AD, Traboulsee AL, Ross JP, Bernales CQ, Encarnacion M, Yee IM, de Lemos M, Greenwood T, Lee JD, Wright G, Ross CJ, Zhang S, Song W, Vilariño-Güell C.

Neuron. 2016 Oct 19;92(2):331-332. doi: 10.1016/j.neuron.2016.10.008. No abstract available.

19.

DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study.

Trinh J, Gustavsson EK, Vilariño-Güell C, Bortnick S, Latourelle J, McKenzie MB, Tu CS, Nosova E, Khinda J, Milnerwood A, Lesage S, Brice A, Tazir M, Aasly JO, Parkkinen L, Haytural H, Foroud T, Myers RH, Sassi SB, Hentati E, Nabli F, Farhat E, Amouri R, Hentati F, Farrer MJ.

Lancet Neurol. 2016 Nov;15(12):1248-1256. doi: 10.1016/S1474-4422(16)30203-4. Epub 2016 Sep 28.

PMID:
27692902
20.

Nuclear Receptor NR1H3 in Familial Multiple Sclerosis.

Wang Z, Sadovnick AD, Traboulsee AL, Ross JP, Bernales CQ, Encarnacion M, Yee IM, de Lemos M, Greenwood T, Lee JD, Wright G, Ross CJ, Zhang S, Song W, Vilariño-Güell C.

Neuron. 2016 Jun 1;90(5):948-54. doi: 10.1016/j.neuron.2016.04.039. Erratum in: Neuron. 2016 Oct 19;92(2):555.

21.

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.

Sadovnick AD, Traboulsee AL, Bernales CQ, Ross JP, Forwell AL, Yee IM, Guillot-Noel L, Fontaine B, Cournu-Rebeix I, Alcina A, Fedetz M, Izquierdo G, Matesanz F, Hilven K, Dubois B, Goris A, Astobiza I, Alloza I, Antigüedad A, Vandenbroeck K, Akkad DA, Aktas O, Blaschke P, Buttmann M, Chan A, Epplen JT, Gerdes LA, Kroner A, Kubisch C, Kümpfel T, Lohse P, Rieckmann P, Zettl UK, Zipp F, Bertram L, Lill CM, Fernandez O, Urbaneja P, Leyva L, Alvarez-Cermeño JC, Arroyo R, Garagorri AM, García-Martínez A, Villar LM, Urcelay E, Malhotra S, Montalban X, Comabella M, Berger T, Fazekas F, Reindl M, Schmied MC, Zimprich A, Vilariño-Güell C.

G3 (Bethesda). 2016 Jul 7;6(7):2073-9. doi: 10.1534/g3.116.030841.

22.

Analysis of CH25H in multiple sclerosis and neuromyelitis optica.

Forwell AL, Bernales CQ, Ross JP, Yee IM, Encarnacion M, Lee JD, Sadovnick AD, Traboulsee AL, Vilariño-Güell C.

J Neuroimmunol. 2016 Feb 15;291:70-2. doi: 10.1016/j.jneuroim.2015.12.014. Epub 2015 Dec 31.

23.

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.

24.

A commentary on fine mapping and resequencing of the PARK16 locus in Parkinson's disease.

Trinh J, Vilariño-Güell C, Ross OA.

J Hum Genet. 2015 Aug;60(8):405-6. doi: 10.1038/jhg.2015.76. Epub 2015 Jul 2. No abstract available.

PMID:
26134513
25.

Incidence of Multiple Sclerosis and Related Disorders in Asian Populations of British Columbia.

Lee JD, Guimond C, Yee IM, Vilariño-Güell C, Wu ZY, Traboulsee AL, Sadovnick AD.

Can J Neurol Sci. 2015 Jul;42(4):235-41. doi: 10.1017/cjn.2015.36. Epub 2015 Jun 15.

PMID:
26074012
26.

Defining neurodegeneration on Guam by targeted genomic sequencing.

Steele JC, Guella I, Szu-Tu C, Lin MK, Thompson C, Evans DM, Sherman HE, Vilariño-Güell C, Gwinn K, Morris H, Dickson DW, Farrer MJ.

Ann Neurol. 2015 Mar;77(3):458-68. doi: 10.1002/ana.24346. Epub 2015 Feb 3.

PMID:
25558820
27.

DNAJC13 genetic variants in parkinsonism.

Gustavsson EK, Trinh J, Guella I, Vilariño-Güell C, Appel-Cresswell S, Stoessl AJ, Tsui JK, McKeown M, Rajput A, Rajput AH, Aasly JO, Farrer MJ.

Mov Disord. 2015 Feb;30(2):273-8. doi: 10.1002/mds.26064. Epub 2014 Nov 12.

PMID:
25393719
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.

The role of SNCA and MAPT in Parkinson disease and LRRK2 parkinsonism in the Tunisian Arab-Berber population.

Trinh J, Gustavsson EK, Guella I, Vilariño-Güell C, Evans D, Encarnacion M, Sherman H, Hentati F, Farrer MJ.

Eur J Neurol. 2014 Nov;21(11):e91-2. doi: 10.1111/ene.12489. No abstract available.

PMID:
25303626
30.

Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism.

Appel-Cresswell S, Rajput AH, Sossi V, Thompson C, Silva V, McKenzie J, Dinelle K, McCormick SE, Vilariño-Güell C, Stoessl AJ, Dickson DW, Robinson CA, Farrer MJ, Rajput A.

Mov Disord. 2014 Nov;29(13):1684-7. doi: 10.1002/mds.26019. Epub 2014 Sep 3.

PMID:
25186792
31.

VPS35 and DNAJC13 disease-causing variants in essential tremor.

Rajput A, Ross JP, Bernales CQ, Rayaprolu S, Soto-Ortolaza AI, Ross OA, van Gerpen J, Uitti RJ, Wszolek ZK, Rajput AH, Vilariño-Güell C.

Eur J Hum Genet. 2015 Jun;23(6):887-8. doi: 10.1038/ejhg.2014.164. Epub 2014 Aug 13.

32.

Genetic variants in IL2RA and IL7R affect multiple sclerosis disease risk and progression.

Traboulsee AL, Bernales CQ, Ross JP, Lee JD, Sadovnick AD, Vilariño-Güell C.

Neurogenetics. 2014 Aug;15(3):165-9. doi: 10.1007/s10048-014-0403-3. Epub 2014 Apr 26.

33.

EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population.

Nishioka K, Funayama M, Vilariño-Güell C, Ogaki K, Li Y, Sasaki R, Kokubo Y, Kuzuhara S, Kachergus JM, Cobb SA, Takahashi H, Mizuno Y, Farrer MJ, Ross OA, Hattori N.

Parkinsonism Relat Disord. 2014 Jun;20(6):659-61. doi: 10.1016/j.parkreldis.2014.03.004. Epub 2014 Mar 18.

34.

A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy.

Araki E, Tsuboi Y, Daechsel J, Milnerwood A, Vilarino-Guell C, Fujii N, Mishima T, Oka T, Hara H, Fukae J, Farrer MJ.

Mov Disord. 2014 Aug;29(9):1201-4. doi: 10.1002/mds.25833. Epub 2014 Feb 22.

PMID:
24676999
35.

Progressive multiple sclerosis does not associate with rs996343 and rs2046748.

Bernales CQ, Ross JP, Lee JD, Zhao Y, Sadovnick AD, Traboulsee AL, Vilariño-Güell C.

Mult Scler. 2014 May;20(6):766-7. doi: 10.1177/1352458513517280. Epub 2013 Dec 24. No abstract available.

36.

Comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p.G2019S parkinsonism.

Trinh J, Amouri R, Duda JE, Morley JF, Read M, Donald A, Vilariño-Güell C, Thompson C, Szu Tu C, Gustavsson EK, Ben Sassi S, Hentati E, Zouari M, Farhat E, Nabli F, Hentati F, Farrer MJ.

Neurobiol Aging. 2014 May;35(5):1125-31. doi: 10.1016/j.neurobiolaging.2013.11.015. Epub 2013 Nov 22.

PMID:
24355527
37.

Analysis of CYP27B1 in multiple sclerosis.

Ross JP, Bernales CQ, Lee JD, Sadovnick AD, Traboulsee AL, Vilariño-Güell C.

J Neuroimmunol. 2014 Jan 15;266(1-2):64-6. doi: 10.1016/j.jneuroim.2013.11.006. Epub 2013 Nov 23.

38.

DNAJC13 mutations in Parkinson disease.

Vilariño-Güell C, Rajput A, Milnerwood AJ, Shah B, Szu-Tu C, Trinh J, Yu I, Encarnacion M, Munsie LN, Tapia L, Gustavsson EK, Chou P, Tatarnikov I, Evans DM, Pishotta FT, Volta M, Beccano-Kelly D, Thompson C, Lin MK, Sherman HE, Han HJ, Guenther BL, Wasserman WW, Bernard V, Ross CJ, Appel-Cresswell S, Stoessl AJ, Robinson CA, Dickson DW, Ross OA, Wszolek ZK, Aasly JO, Wu RM, Hentati F, Gibson RA, McPherson PS, Girard M, Rajput M, Rajput AH, Farrer MJ.

Hum Mol Genet. 2014 Apr 1;23(7):1794-801. doi: 10.1093/hmg/ddt570. Epub 2013 Nov 11.

39.

SLC1A2 rs3794087 does not associate with essential tremor.

Ross JP, Rayaprolu S, Bernales CQ, Soto-Ortolaza AI, van Gerpen J, Uitti RJ, Wszolek ZK, Rajput A, Rajput AH, Rajput ML, Ross OA, Vilariño-Güell C.

Neurobiol Aging. 2014 Apr;35(4):935.e9-10. doi: 10.1016/j.neurobiolaging.2013.09.022. Epub 2013 Oct 16.

40.

Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants.

Heckman MG, Elbaz A, Soto-Ortolaza AI, Serie DJ, Aasly JO, Annesi G, Auburger G, Bacon JA, Boczarska-Jedynak M, Bozi M, Brighina L, Chartier-Harlin MC, Dardiotis E, Destée A, Ferrarese C, Ferraris A, Fiske B, Gispert S, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lin CH, Lohmann K, Loriot MA, Lynch T, Mellick GD, Mutez E, Opala G, Park SS, Petrucci S, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Tomiyama H, Uitti RJ, Valente EM, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Xiromerisiou G, Maraganore DM, Farrer MJ, Ross OA; Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium.

Neurobiol Aging. 2014 Jan;35(1):266.e5-14. doi: 10.1016/j.neurobiolaging.2013.07.013. Epub 2013 Aug 17.

41.

Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.

Heckman MG, Soto-Ortolaza AI, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Boczarska-Jedynak M, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin CH, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Petrucci S, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, Van Broeckhoven C, van de Loo S, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Hentati F, Farrer MJ, Ross OA; Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.

Mov Disord. 2013 Oct;28(12):1740-4. doi: 10.1002/mds.25600. Epub 2013 Aug 2.

42.

Colony stimulation factor 1 receptor (CSF1R) is not a common cause of multiple sclerosis.

Sadovnick AD, Traboulsee AL, Lee JD, Ross JP, Bernales CQ, Vilariño-Güell C.

Eur J Neurol. 2013 Sep;20(9):e115-6. doi: 10.1111/ene.12213. No abstract available.

43.

Identification of FUS p.R377W in essential tremor.

Rajput A, Rajput AH, Rajput ML, Encarnacion M, Bernales CQ, Ross JP, Farrer MJ, Vilariño-Güell C.

Eur J Neurol. 2014 Feb;21(2):361-3. doi: 10.1111/ene.12231. Epub 2013 Jul 3.

44.

Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.

Appel-Cresswell S, Vilarino-Guell C, Encarnacion M, Sherman H, Yu I, Shah B, Weir D, Thompson C, Szu-Tu C, Trinh J, Aasly JO, Rajput A, Rajput AH, Jon Stoessl A, Farrer MJ.

Mov Disord. 2013 Jun;28(6):811-3. doi: 10.1002/mds.25421. Epub 2013 Mar 1.

PMID:
23457019
45.

STX6 rs1411478 is not associated with increased risk of Parkinson's disease.

Trinh J, Vilariño-Güell C, Donald A, Shah B, Yu I, Szu-Tu C, Aasly JO, Wu RM, Hentati F, Rajput AH, Rajput A, Farrer MJ.

Parkinsonism Relat Disord. 2013 May;19(5):563-5. doi: 10.1016/j.parkreldis.2013.01.019. Epub 2013 Feb 14.

PMID:
23415606
46.

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.

Sharma M, Ioannidis JP, Aasly JO, Annesi G, Brice A, Bertram L, Bozi M, Barcikowska M, Crosiers D, Clarke CE, Facheris MF, Farrer M, Garraux G, Gispert S, Auburger G, Vilariño-Güell C, Hadjigeorgiou GM, Hicks AA, Hattori N, Jeon BS, Jamrozik Z, Krygowska-Wajs A, Lesage S, Lill CM, Lin JJ, Lynch T, Lichtner P, Lang AE, Libioulle C, Murata M, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Meitnger T, Zimprich A, Opala G, Pramstaller PP, Pichler I, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Satake W, Silburn PA, Strom TM, Theuns J, Tan EK, Toda T, Tomiyama H, Uitti RJ, Van Broeckhoven C, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yomono HS, Yueh KC, Zhao Y, Gasser T, Maraganore D, Krüger R; GEOPD consortium.

J Med Genet. 2012 Nov;49(11):721-6. doi: 10.1136/jmedgenet-2012-101155. Erratum in: J Med Genet. 2013 Mar;50(3):202.

47.

Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia.

Fujioka S, Sundal C, Strongosky AJ, Castanedes MC, Rademakers R, Ross OA, Vilariño-Güell C, Farrer MJ, Wszolek ZK, Dickson DW.

Acta Neuropathol. 2013 Mar;125(3):425-38. doi: 10.1007/s00401-012-1059-4. Epub 2012 Nov 4.

48.

Large-scale replication and heterogeneity in Parkinson disease genetic loci.

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