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PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.
Klein C, Djarmati A, Hedrich K, Schäfer N, Scaglione C, Marchese R, Kock N, Schüle B, Hiller A, Lohnau T, Winkler S, Wiegers K, Hering R, Bauer P, Riess O, Abbruzzese G, Martinelli P, Pramstaller PP. Klein C, et al. Among authors: schafer n. Eur J Hum Genet. 2005 Sep;13(9):1086-93. doi: 10.1038/sj.ejhg.5201455. Eur J Hum Genet. 2005. PMID: 15970950
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease.
Hedrich K, Djarmati A, Schäfer N, Hering R, Wellenbrock C, Weiss PH, Hilker R, Vieregge P, Ozelius LJ, Heutink P, Bonifati V, Schwinger E, Lang AE, Noth J, Bressman SB, Pramstaller PP, Riess O, Klein C. Hedrich K, et al. Among authors: schafer n. Neurology. 2004 Feb 10;62(3):389-94. doi: 10.1212/01.wnl.0000113022.51739.88. Neurology. 2004. PMID: 14872018
The R98Q variation in DJ-1 represents a rare polymorphism.
Hedrich K, Schäfer N, Hering R, Hagenah J, Lanthaler AJ, Schwinger E, Kramer PL, Ozelius LJ, Bressman SB, Abbruzzese G, Martinelli P, Kostic V, Pramstaller PP, Vieregge P, Riess O, Klein C. Hedrich K, et al. Among authors: schafer n. Ann Neurol. 2004 Jan;55(1):145; author reply 145-6. doi: 10.1002/ana.10816. Ann Neurol. 2004. PMID: 14705128 No abstract available.
Pivotal role of choline metabolites in remyelination.
Skripuletz T, Manzel A, Gropengießer K, Schäfer N, Gudi V, Singh V, Salinas Tejedor L, Jörg S, Hammer A, Voss E, Vulinovic F, Degen D, Wolf R, Lee DH, Pul R, Moharregh-Khiabani D, Baumgärtner W, Gold R, Linker RA, Stangel M. Skripuletz T, et al. Among authors: schafer n. Brain. 2015 Feb;138(Pt 2):398-413. doi: 10.1093/brain/awu358. Epub 2014 Dec 17. Brain. 2015. PMID: 25524711
Genetic vulnerability and adverse mental health outcomes following mild traumatic brain injury: a meta-analysis of CENTER-TBI and TRACK-TBI cohorts.
Kals M, Wilson L, Levey DF, Parodi L, Steyerberg EW, Richardson S, He F, Sun X, Jain S, Palotie A, Ripatti S, Rosand J, Manley GT, Maas AIR, Stein MB, Menon DK; Genetic Associations In Neurotrauma (GAIN) Consortium (with contribution from the CENTER-TBI and TRACK-TBI studies). Kals M, et al. EClinicalMedicine. 2024 Dec 5;78:102956. doi: 10.1016/j.eclinm.2024.102956. eCollection 2024 Dec. EClinicalMedicine. 2024. PMID: 39720422 Free PMC article.
408 results