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A reference human induced pluripotent stem cell line for large-scale collaborative studies.
Pantazis CB, Yang A, Lara E, McDonough JA, Blauwendraat C, Peng L, Oguro H, Kanaujiya J, Zou J, Sebesta D, Pratt G, Cross E, Blockwick J, Buxton P, Kinner-Bibeau L, Medura C, Tompkins C, Hughes S, Santiana M, Faghri F, Nalls MA, Vitale D, Ballard S, Qi YA, Ramos DM, Anderson KM, Stadler J, Narayan P, Papademetriou J, Reilly L, Nelson MP, Aggarwal S, Rosen LU, Kirwan P, Pisupati V, Coon SL, Scholz SW, Priebe T, Öttl M, Dong J, Meijer M, Janssen LJM, Lourenco VS, van der Kant R, Crusius D, Paquet D, Raulin AC, Bu G, Held A, Wainger BJ, Gabriele RMC, Casey JM, Wray S, Abu-Bonsrah D, Parish CL, Beccari MS, Cleveland DW, Li E, Rose IVL, Kampmann M, Calatayud Aristoy C, Verstreken P, Heinrich L, Chen MY, Schüle B, Dou D, Holzbaur ELF, Zanellati MC, Basundra R, Deshmukh M, Cohen S, Khanna R, Raman M, Nevin ZS, Matia M, Van Lent J, Timmerman V, Conklin BR, Johnson Chase K, Zhang K, Funes S, Bosco DA, Erlebach L, Welzer M, Kronenberg-Versteeg D, Lyu G, Arenas E, Coccia E, Sarrafha L, Ahfeldt T, Marioni JC, Skarnes WC, Cookson MR, Ward ME, Merkle FT. Pantazis CB, et al. Among authors: scholz sw. Cell Stem Cell. 2022 Dec 1;29(12):1685-1702.e22. doi: 10.1016/j.stem.2022.11.004. Cell Stem Cell. 2022. PMID: 36459969 Free PMC article.
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. Blauwendraat C, et al. Among authors: scholz sw. Mov Disord. 2017 Feb;32(2):298-299. doi: 10.1002/mds.26886. Epub 2016 Dec 17. Mov Disord. 2017. PMID: 27987235 Free PMC article. No abstract available.
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. Blauwendraat C, et al. Among authors: scholz sw. Neurobiol Aging. 2017 Sep;57:247.e9-247.e13. doi: 10.1016/j.neurobiolaging.2017.05.009. Epub 2017 May 17. Neurobiol Aging. 2017. PMID: 28602509 Free PMC article.
TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia.
Geiger JT, Schindler AB, Blauwendraat C, Singer HS, Scholz SW. Geiger JT, et al. Among authors: scholz sw. Case Rep Neurol. 2017 Aug 31;9(2):216-221. doi: 10.1159/000479788. eCollection 2017 May-Aug. Case Rep Neurol. 2017. PMID: 28966590 Free PMC article.
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. Blauwendraat C, et al. Among authors: scholz sw. Neurobiol Aging. 2018 Apr;64:159.e5-159.e8. doi: 10.1016/j.neurobiolaging.2017.12.012. Epub 2017 Dec 20. Neurobiol Aging. 2018. PMID: 29398121 Free PMC article.
Genetic analysis of neurodegenerative diseases in a pathology cohort.
Blauwendraat C, Pletnikova O, Geiger JT, Murphy NA, Abramzon Y, Rudow G, Mamais A, Sabir MS, Crain B, Ahmed S, Rosenthal LS, Bakker CC, Faghri F, Chia R, Ding J, Dawson TM, Pantelyat A, Albert MS, Nalls MA, Resnick SM, Ferrucci L, Cookson MR, Hillis AE, Troncoso JC, Scholz SW. Blauwendraat C, et al. Among authors: scholz sw. Neurobiol Aging. 2019 Apr;76:214.e1-214.e9. doi: 10.1016/j.neurobiolaging.2018.11.007. Epub 2018 Nov 17. Neurobiol Aging. 2019. PMID: 30528841 Free PMC article.
Assessment of APOE in atypical parkinsonism syndromes.
Sabir MS, Blauwendraat C, Ahmed S, Serrano GE, Beach TG, Perkins M, Rice AC, Masliah E, Morris CM, Pihlstrom L, Pantelyat A, Resnick SM, Cookson MR, Hernandez DG, Albert M, Dawson TM, Rosenthal LS, Houlden H, Pletnikova O, Troncoso J, Scholz SW. Sabir MS, et al. Among authors: scholz sw. Neurobiol Dis. 2019 Jul;127:142-146. doi: 10.1016/j.nbd.2019.02.016. Epub 2019 Feb 21. Neurobiol Dis. 2019. PMID: 30798004 Free PMC article.
Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.
Blauwendraat C, Reed X, Krohn L, Heilbron K, Bandres-Ciga S, Tan M, Gibbs JR, Hernandez DG, Kumaran R, Langston R, Bonet-Ponce L, Alcalay RN, Hassin-Baer S, Greenbaum L, Iwaki H, Leonard HL, Grenn FP, Ruskey JA, Sabir M, Ahmed S, Makarious MB, Pihlstrøm L, Toft M, van Hilten JJ, Marinus J, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola-Rautio J, Tienari PJ; 23andMe Research Team; Pantelyat A, Hillis AE, Dawson TM, Rosenthal LS, Albert MS, Resnick SM, Ferrucci L, Morris CM, Pletnikova O, Troncoso J, Grosset D, Lesage S, Corvol JC, Brice A, Noyce AJ, Masliah E, Wood N, Hardy J, Shulman LM, Jankovic J, Shulman JM, Heutink P, Gasser T, Cannon P, Scholz SW, Morris H, Cookson MR, Nalls MA, Gan-Or Z, Singleton AB. Blauwendraat C, et al. Among authors: scholz sw. Brain. 2020 Jan 1;143(1):234-248. doi: 10.1093/brain/awz350. Brain. 2020. PMID: 31755958 Free PMC article.
Classification of GBA Variants and Their Effects in Synucleinopathies.
Gan-Or Z, Alcalay RN, Makarious MB, Scholz SW, Blauwendraat C; International Parkinson's Disease Genomics Consortium (IPDGC). Gan-Or Z, et al. Among authors: scholz sw. Mov Disord. 2019 Oct;34(10):1581-1582. doi: 10.1002/mds.27803. Mov Disord. 2019. PMID: 31769092 No abstract available.
Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource.
Iwaki H, Leonard HL, Makarious MB, Bookman M, Landin B, Vismer D, Casey B, Gibbs JR, Hernandez DG, Blauwendraat C, Vitale D, Song Y, Kumar D, Dalgard CL, Sadeghi M, Dong X, Misquitta L, Scholz SW, Scherzer CR, Nalls MA, Biswas S, Singleton AB; Uniformed Services University of the Health Sciences Associates; AMP PD Whole Genome Sequencing Working Group; AMP PD consortium. Iwaki H, et al. Among authors: scholz sw. Mov Disord. 2021 Aug;36(8):1795-1804. doi: 10.1002/mds.28549. Epub 2021 May 7. Mov Disord. 2021. PMID: 33960523 Free PMC article.
136 results