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Items: 16

1.

Parkinson-Associated SNCA Enhancer Variants Revealed by Open Chromatin in Mouse Dopamine Neurons.

McClymont SA, Hook PW, Soto AI, Reed X, Law WD, Kerans SJ, Waite EL, Briceno NJ, Thole JF, Heckman MG, Diehl NN, Wszolek ZK, Moore CD, Zhu H, Akiyama JA, Dickel DE, Visel A, Pennacchio LA, Ross OA, Beer MA, McCallion AS.

Am J Hum Genet. 2018 Dec 6;103(6):874-892. doi: 10.1016/j.ajhg.2018.10.018. Epub 2018 Nov 29.

PMID:
30503521
2.

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.

PMID:
30413633
3.

ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans.

Conway OJ, Carrasquillo MM, Wang X, Bredenberg JM, Reddy JS, Strickland SL, Younkin CS, Burgess JD, Allen M, Lincoln SJ, Nguyen T, Malphrus KG, Soto AI, Walton RL, Boeve BF, Petersen RC, Lucas JA, Ferman TJ, Cheshire WP, van Gerpen JA, Uitti RJ, Wszolek ZK, Ross OA, Dickson DW, Graff-Radford NR, Ertekin-Taner N.

Mol Neurodegener. 2018 Oct 11;13(1):53. doi: 10.1186/s13024-018-0289-x.

4.

APOE ε4 is associated with severity of Lewy body pathology independent of Alzheimer pathology.

Dickson DW, Heckman MG, Murray ME, Soto AI, Walton RL, Diehl NN, van Gerpen JA, Uitti RJ, Wszolek ZK, Ertekin-Taner N, Knopman DS, Petersen RC, Graff-Radford NR, Boeve BF, Bu G, Ferman TJ, Ross OA.

Neurology. 2018 Sep 18;91(12):e1182-e1195. doi: 10.1212/WNL.0000000000006212. Epub 2018 Aug 24.

PMID:
30143564
5.

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.

6.

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.

PMID:
29947276
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.

PMID:
29442376
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.

DCTN1 variation in pathologically-confirmed PSP and CBD tauopathy.

Sanchez-Contreras M, Soto AI, Walton RL, Wszolek ZK, Dickson DW, Ross OA, Rademakers R.

Parkinsonism Relat Disord. 2017 Nov;44:151-153. doi: 10.1016/j.parkreldis.2017.08.027. Epub 2017 Aug 30. No abstract available.

PMID:
28867162
10.

Reported mutations in GIGYF2 are not a common cause of Parkinson's disease.

Vilariño-Güell C, Ross OA, Soto AI, Farrer MJ, Haugarvoll K, Aasly JO, Uitti RJ, Wszolek ZK.

Mov Disord. 2009 Mar 15;24(4):619-20. doi: 10.1002/mds.22451. No abstract available.

PMID:
19133664
11.

FGF20 and Parkinson's disease: no evidence of association or pathogenicity via alpha-synuclein expression.

Wider C, Dachsel JC, Soto AI, Heckman MG, Diehl NN, Yue M, Lincoln S, Aasly JO, Haugarvoll K, Trojanowski JQ, Papapetropoulos S, Mash D, Rajput A, Rajput AH, Gibson JM, Lynch T, Dickson DW, Uitti RJ, Wszolek ZK, Farrer MJ, Ross OA.

Mov Disord. 2009 Feb 15;24(3):455-9. doi: 10.1002/mds.22442.

12.

ATP13A2 variability in Parkinson disease.

Vilariño-Güell C, Soto AI, Lincoln SJ, Ben Yahmed S, Kefi M, Heckman MG, Hulihan MM, Chai H, Diehl NN, Amouri R, Rajput A, Mash DC, Dickson DW, Middleton LT, Gibson RA, Hentati F, Farrer MJ.

Hum Mutat. 2009 Mar;30(3):406-10. doi: 10.1002/humu.20877.

13.

Genetic variation of Omi/HtrA2 and Parkinson's disease.

Ross OA, Soto AI, Vilariño-Güell C, Heckman MG, Diehl NN, Hulihan MM, Aasly JO, Sando S, Gibson JM, Lynch T, Krygowska-Wajs A, Opala G, Barcikowska M, Czyzewski K, Uitti RJ, Wszolek ZK, Farrer MJ.

Parkinsonism Relat Disord. 2008 Nov;14(7):539-43. doi: 10.1016/j.parkreldis.2008.08.003. Epub 2008 Sep 14.

14.

Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease.

Ross OA, Heckman MG, Soto AI, Diehl NN, Haugarvoll K, Vilariño-Güell C, Aasly JO, Sando S, Gibson JM, Lynch T, Krygowska-Wajs A, Opala G, Barcikowska M, Czyzewski K, Uitti RJ, Wszolek ZK, Farrer MJ.

Parkinsonism Relat Disord. 2008 Nov;14(7):544-7. doi: 10.1016/j.parkreldis.2008.07.002. Epub 2008 Aug 22.

15.

Susceptibility genes for restless legs syndrome are not associated with Parkinson disease.

Vilariño-Güell C, Soto AI, Young JE, Lin SC, Uitti RJ, Wszolek ZK, Farrer MJ.

Neurology. 2008 Jul 15;71(3):222-3. doi: 10.1212/01.wnl.0000317101.67684.e3. No abstract available.

PMID:
18625969
16.

Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease.

Ross OA, Wu YR, Lee MC, Funayama M, Chen ML, Soto AI, Mata IF, Lee-Chen GJ, Chen CM, Tang M, Zhao Y, Hattori N, Farrer MJ, Tan EK, Wu RM.

Ann Neurol. 2008 Jul;64(1):88-92. doi: 10.1002/ana.21405.

PMID:
18412265

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