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Page 1
Analysis of the prion protein gene in multiple system atrophy.
Chelban V, Manole A, Pihlstrøm L, Schottlaender L, Efthymiou S, OConnor E, Meissner WG, Holton JL, Houlden H. Chelban V, et al. Among authors: pihlstrom l. Neurobiol Aging. 2017 Jan;49:216.e15-216.e18. doi: 10.1016/j.neurobiolaging.2016.09.021. Epub 2016 Oct 3. Neurobiol Aging. 2017. PMID: 27793473 Free PMC article.
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: pihlstrom l. 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.
Genetics of neurodegenerative diseases: an overview.
Pihlstrøm L, Wiethoff S, Houlden H. Pihlstrøm L, et al. Handb Clin Neurol. 2017;145:309-323. doi: 10.1016/B978-0-12-802395-2.00022-5. Handb Clin Neurol. 2017. PMID: 28987179 Review.
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: pihlstrom l. 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.
Lysosomal storage disorder gene variants in multiple system atrophy.
Pihlstrøm L, Schottlaender L, Chelban V; MSA Exome Consortium; Meissner WG, Federoff M, Singleton A, Houlden H. Pihlstrøm L, et al. Brain. 2018 Jul 1;141(7):e53. doi: 10.1093/brain/awy124. Brain. 2018. PMID: 29741613 Free PMC article. No abstract available.
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). Blauwendraat C, et al. Among authors: pihlstrom l. JAMA Neurol. 2018 Nov 1;75(11):1416-1422. doi: 10.1001/jamaneurol.2018.1885. JAMA Neurol. 2018. PMID: 30039155 Free PMC article.
LRP10 in α-synucleinopathies.
Kia DA, Sabir MS, Ahmed S, Trinh J, Bandres-Ciga S; International Parkinson's Disease Genomics Consortium. Kia DA, et al. Lancet Neurol. 2018 Dec;17(12):1032. doi: 10.1016/S1474-4422(18)30401-0. Epub 2018 Nov 13. Lancet Neurol. 2018. PMID: 30507383 No abstract available.
LRP10 in α-synucleinopathies.
Pihlstrøm L, Schottlaender L, Chelban V, Houlden H; MSA Exome Consortium. Pihlstrøm L, et al. Lancet Neurol. 2018 Dec;17(12):1033-1034. doi: 10.1016/S1474-4422(18)30407-1. Epub 2018 Nov 13. Lancet Neurol. 2018. PMID: 30507385 No abstract available.
The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease.
Bandres-Ciga S, Saez-Atienzar S, Bonet-Ponce L, Billingsley K, Vitale D, Blauwendraat C, Gibbs JR, Pihlstrøm L, Gan-Or Z; International Parkinson's Disease Genomics Consortium (IPDGC); Cookson MR, Nalls MA, Singleton AB. Bandres-Ciga S, et al. Among authors: pihlstrom l. Mov Disord. 2019 Apr;34(4):460-468. doi: 10.1002/mds.27614. Epub 2019 Jan 24. Mov Disord. 2019. PMID: 30675927 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: pihlstrom l. 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.
107 results