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Page 1
Neurophysiological study in cerebrotendinous xanthomatosis.
Pilo B, de Blas G, Sobrido MJ, Navarro C, Grandas F, Barrero FJ, Moya MA, Jimenez-Escrig A. Pilo B, et al. Muscle Nerve. 2011 Apr;43(4):531-6. doi: 10.1002/mus.21905. Muscle Nerve. 2011. PMID: 21404287
Cerebrotendinous xanthomatosis: neuropathological findings.
Pilo de la Fuente B, Ruiz I, Lopez de Munain A, Jimenez-Escrig A. Pilo de la Fuente B, et al. J Neurol. 2008 Jun;255(6):839-42. doi: 10.1007/s00415-008-0729-6. Epub 2008 May 6. J Neurol. 2008. PMID: 18458861
Smoking is associated with age at disease onset in Parkinson's disease.
Rosas I, Morís G, Coto E, Blázquez-Estrada M, Suárez E, García-Fernández C, Martínez C, Herrera ID, Pérez-Oliveira S, Álvarez V, Menéndez-González M; Spain_PD consortium. Rosas I, et al. Parkinsonism Relat Disord. 2022 Apr;97:79-83. doi: 10.1016/j.parkreldis.2022.03.005. Epub 2022 Mar 24. Parkinsonism Relat Disord. 2022. PMID: 35364453
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.
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage.
Chen Z, Zhang D, Reynolds RH, Gustavsson EK, García-Ruiz S, D'Sa K, Fairbrother-Browne A, Vandrovcova J; International Parkinson’s Disease Genomics Consortium (IPDGC); Hardy J, Houlden H, Gagliano Taliun SA, Botía J, Ryten M. Chen Z, et al. Nat Commun. 2021 Apr 6;12(1):2076. doi: 10.1038/s41467-021-22262-5. Nat Commun. 2021. PMID: 33824317 Free PMC article.
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information.
Guelfi S, D'Sa K, Botía JA, Vandrovcova J, Reynolds RH, Zhang D, Trabzuni D, Collado-Torres L, Thomason A, Quijada Leyton P, Gagliano Taliun SA, Nalls MA; International Parkinson’s Disease Genomics Consortium (IPDGC); UK Brain Expression Consortium (UKBEC); Small KS, Smith C, Ramasamy A, Hardy J, Weale ME, Ryten M. Guelfi S, et al. Nat Commun. 2020 Feb 25;11(1):1041. doi: 10.1038/s41467-020-14483-x. Nat Commun. 2020. PMID: 32098967 Free PMC article.
101 results