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Items: 1 to 20 of 36

1.

Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.

Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrøm L, Guerreiro R, Gibbs JR, Sabir M, Ahmed S, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Hernandez DG, Chung SJ, Goldwurm S, Toft M, Schulte C, Bras J, Wood NW, Brice A, Morris HR, Scholz SW, Nalls MA, Singleton AB, Cookson MR; COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease) Consortium, the French Parkinson’s Disease Consortium, and the International Parkinson’s Disease Genomics Consortium (IPDGC).

JAMA Neurol. 2018 Jul 23. doi: 10.1001/jamaneurol.2018.1885. [Epub ahead of print]

PMID:
30039155
2.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE.

Neuron. 2018 Mar 21;97(6):1268-1283.e6. doi: 10.1016/j.neuron.2018.02.027.

PMID:
29566793
3.

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.

Blauwendraat C, Kia DA, Pihlstrøm L, Gan-Or Z, Lesage S, Gibbs JR, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Chung SJ, Goldwurm S, Toft M, Schulte C; International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium, Hernandez D, Singleton AB, Nalls MA, Brice A, Scholz SW, Wood NW.

Neurobiol Aging. 2018 Apr;64:159.e5-159.e8. doi: 10.1016/j.neurobiolaging.2017.12.012. Epub 2017 Dec 20.

PMID:
29398121
4.

Identification of new α-synuclein regulator by nontraditional drug development pipeline.

Chen X, Scholz SW.

Mov Disord. 2018 Mar;33(3):402. doi: 10.1002/mds.27278. Epub 2018 Jan 11. No abstract available.

PMID:
29322595
5.

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study.

Guerreiro R, Ross OA, Kun-Rodrigues C, Hernandez DG, Orme T, Eicher JD, Shepherd CE, Parkkinen L, Darwent L, Heckman MG, Scholz SW, Troncoso JC, Pletnikova O, Ansorge O, Clarimon J, Lleo A, Morenas-Rodriguez E, Clark L, Honig LS, Marder K, Lemstra A, Rogaeva E, St George-Hyslop P, Londos E, Zetterberg H, Barber I, Braae A, Brown K, Morgan K, Troakes C, Al-Sarraj S, Lashley T, Holton J, Compta Y, Van Deerlin V, Serrano GE, Beach TG, Lesage S, Galasko D, Masliah E, Santana I, Pastor P, Diez-Fairen M, Aguilar M, Tienari PJ, Myllykangas L, Oinas M, Revesz T, Lees A, Boeve BF, Petersen RC, Ferman TJ, Escott-Price V, Graff-Radford N, Cairns NJ, Morris JC, Pickering-Brown S, Mann D, Halliday GM, Hardy J, Trojanowski JQ, Dickson DW, Singleton A, Stone DJ, Bras J.

Lancet Neurol. 2018 Jan;17(1):64-74. doi: 10.1016/S1474-4422(17)30400-3. Epub 2017 Dec 16.

6.

Restless legs syndrome: is it all in the genes?

Scholz SW.

Lancet Neurol. 2017 Nov;16(11):859-860. doi: 10.1016/S1474-4422(17)30330-7. No abstract available.

PMID:
29029839
7.

TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia.

Geiger JT, Schindler AB, Blauwendraat C, Singer HS, Scholz SW.

Case Rep Neurol. 2017 Aug 31;9(2):216-221. doi: 10.1159/000479788. eCollection 2017 May-Aug.

8.

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases.

Blauwendraat C, Faghri F, Pihlstrom L, Geiger JT, Elbaz A, Lesage S, Corvol JC, May P, Nicolas A, Abramzon Y, Murphy NA, Gibbs JR, Ryten M, Ferrari R, Bras J, Guerreiro R, Williams J, Sims R, Lubbe S, Hernandez DG, Mok KY, Robak L, Campbell RH, Rogaeva E, Traynor BJ, Chia R, Chung SJ; International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium, Hardy JA, Brice A, Wood NW, Houlden H, Shulman JM, Morris HR, Gasser T, Krüger R, Heutink P, Sharma M, Simón-Sánchez J, Nalls MA, Singleton AB, Scholz SW.

Neurobiol Aging. 2017 Sep;57:247.e9-247.e13. doi: 10.1016/j.neurobiolaging.2017.05.009. Epub 2017 May 17.

9.

Author response: A genome-wide association study in multiple system atrophy.

Scholz SW, Houlden H.

Neurology. 2017 Mar 28;88(13):1296-1297. doi: 10.1212/WNL.0000000000003783. No abstract available.

PMID:
28348123
10.

ADORA1 mutations are not a common cause of Parkinson's disease and dementia with Lewy bodies.

Blauwendraat C, Nalls MA, Federoff M, Pletnikova O, Ding J, Letson C, Geiger JT, Gibbs JR, Hernandez DG, Troncoso JC, Simón-Sánchez J, Scholz SW; International Parkinson's Disease Genomics Consortium.

Mov Disord. 2017 Feb;32(2):298-299. doi: 10.1002/mds.26886. Epub 2016 Dec 17. No abstract available.

11.

A genome-wide association study in multiple system atrophy.

Sailer A, Scholz SW, Nalls MA, Schulte C, Federoff M, Price TR, Lees A, Ross OA, Dickson DW, Mok K, Mencacci NE, Schottlaender L, Chelban V, Ling H, O'Sullivan SS, Wood NW, Traynor BJ, Ferrucci L, Federoff HJ, Mhyre TR, Morris HR, Deuschl G, Quinn N, Widner H, Albanese A, Infante J, Bhatia KP, Poewe W, Oertel W, Höglinger GU, Wüllner U, Goldwurm S, Pellecchia MT, Ferreira J, Tolosa E, Bloem BR, Rascol O, Meissner WG, Hardy JA, Revesz T, Holton JL, Gasser T, Wenning GK, Singleton AB, Houlden H; European Multiple System Atrophy Study Group and the UK Multiple System Atrophy Study Group.

Neurology. 2016 Oct 11;87(15):1591-1598. Epub 2016 Sep 14.

12.

Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies.

Geiger JT, Ding J, Crain B, Pletnikova O, Letson C, Dawson TM, Rosenthal LS, Pantelyat A, Gibbs JR, Albert MS, Hernandez DG, Hillis AE, Stone DJ, Singleton AB; North American Brain Expression Consortium, Hardy JA, Troncoso JC, Scholz SW.

Neurobiol Dis. 2016 Oct;94:55-62. doi: 10.1016/j.nbd.2016.06.004. Epub 2016 Jun 14.

13.

C9orf72 Hexanucleotide Repeat Analysis in Cases with Pathologically Confirmed Dementia with Lewy Bodies.

Geiger JT, Arthur KC, Dawson TM, Rosenthal LS, Pantelyat A, Albert M, Hillis AE, Crain B, Pletnikova O, Troncoso JC, Scholz SW.

Neurodegener Dis. 2016;16(5-6):370-2. doi: 10.1159/000445872. Epub 2016 May 31.

14.

Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative Disorders.

Scholz SW, Bras J.

Int J Mol Sci. 2015 Oct 16;16(10):24629-55. doi: 10.3390/ijms161024629. Review.

15.

GBA mutations and Parkinson disease: when genotype meets phenotype.

Scholz SW, Jeon BS.

Neurology. 2015 Mar 3;84(9):866-7. doi: 10.1212/WNL.0000000000001321. Epub 2015 Feb 4. No abstract available.

PMID:
25653294
16.

A genome-wide association study of myasthenia gravis.

Renton AE, Pliner HA, Provenzano C, Evoli A, Ricciardi R, Nalls MA, Marangi G, Abramzon Y, Arepalli S, Chong S, Hernandez DG, Johnson JO, Bartoccioni E, Scuderi F, Maestri M, Gibbs JR, Errichiello E, Chiò A, Restagno G, Sabatelli M, Macek M, Scholz SW, Corse A, Chaudhry V, Benatar M, Barohn RJ, McVey A, Pasnoor M, Dimachkie MM, Rowin J, Kissel J, Freimer M, Kaminski HJ, Sanders DB, Lipscomb B, Massey JM, Chopra M, Howard JF Jr, Koopman WJ, Nicolle MW, Pascuzzi RM, Pestronk A, Wulf C, Florence J, Blackmore D, Soloway A, Siddiqi Z, Muppidi S, Wolfe G, Richman D, Mezei MM, Jiwa T, Oger J, Drachman DB, Traynor BJ.

JAMA Neurol. 2015 Apr;72(4):396-404. doi: 10.1001/jamaneurol.2014.4103.

17.

Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions.

Scholz SW, Majounie E, Revesz T, Holton JL, Okun MS, Houlden H, Singleton AB.

Neurobiol Aging. 2015 Feb;36(2):1223.e1-2. doi: 10.1016/j.neurobiolaging.2014.08.033. Epub 2014 Sep 6.

18.

Multiple system atrophy as emerging template for accelerated drug discovery in α-synucleinopathies.

Krismer F, Jellinger KA, Scholz SW, Seppi K, Stefanova N, Antonini A, Poewe W, Wenning GK.

Parkinsonism Relat Disord. 2014 Aug;20(8):793-9. doi: 10.1016/j.parkreldis.2014.05.005. Epub 2014 May 21. Review.

19.

Variability in clinical phenotypes of heterozygous and homozygous cases of Parkin-related Parkinson's disease.

Thompson AJ, Scholz SW, Singleton AB, Hardwick A, McFarland NR, Okun MS.

Int J Neurosci. 2013 Dec;123(12):847-9. doi: 10.3109/00207454.2013.810626. Epub 2013 Jul 9.

20.

Genomics and bioinformatics of Parkinson's disease.

Scholz SW, Mhyre T, Ressom H, Shah S, Federoff HJ.

Cold Spring Harb Perspect Med. 2012 Jul;2(7):a009449. doi: 10.1101/cshperspect.a009449. Review.

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