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Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.
O'Toole JF, Liu Y, Davis EE, Westlake CJ, Attanasio M, Otto EA, Seelow D, Nurnberg G, Becker C, Nuutinen M, Kärppä M, Ignatius J, Uusimaa J, Pakanen S, Jaakkola E, van den Heuvel LP, Fehrenbach H, Wiggins R, Goyal M, Zhou W, Wolf MT, Wise E, Helou J, Allen SJ, Murga-Zamalloa CA, Ashraf S, Chaki M, Heeringa S, Chernin G, Hoskins BE, Chaib H, Gleeson J, Kusakabe T, Suzuki T, Isaac RE, Quarmby LM, Tennant B, Fujioka H, Tuominen H, Hassinen I, Lohi H, van Houten JL, Rotig A, Sayer JA, Rolinski B, Freisinger P, Madhavan SM, Herzer M, Madignier F, Prokisch H, Nurnberg P, Jackson PK, Khanna H, Katsanis N, Hildebrandt F. O'Toole JF, et al. Among authors: jaakkola e. J Clin Invest. 2010 Mar;120(3):791-802. doi: 10.1172/JCI40076. Epub 2010 Feb 22. J Clin Invest. 2010. PMID: 20179356 Free PMC article.
Interleukin 10 polymorphisms in ankylosing spondylitis.
Goedecke V, Crane AM, Jaakkola E, Kaluza W, Laiho K, Weeks DE, Wilson J, Kauppi M, Kaarela K, Tuomilehto J, Wordsworth BP, Brown MA. Goedecke V, et al. Among authors: jaakkola e. Genes Immun. 2003 Jan;4(1):74-6. doi: 10.1038/sj.gene.6363930. Genes Immun. 2003. PMID: 12595905
Dietary Caffeine and Brain Dopaminergic Function in Parkinson Disease.
Saarinen EK, Kuusimäki T, Lindholm K, Niemi K, Honkanen EA, Noponen T, Seppänen M, Ihalainen T, Murtomäki K, Mertsalmi T, Jaakkola E, Myller E, Eklund M, Nuuttila S, Levo R, Chaudhuri KR, Antonini A, Vahlberg T, Lehtonen M, Joutsa J, Scheperjans F, Kaasinen V. Saarinen EK, et al. Among authors: jaakkola e. Ann Neurol. 2024 May 20. doi: 10.1002/ana.26957. Online ahead of print. Ann Neurol. 2024. PMID: 38767012
Bodily Maps of Symptoms and Emotions in Parkinson's Disease.
Niemi KJ, Huovinen A, Jaakkola E, Glerean E, Nummenmaa L, Joutsa J. Niemi KJ, et al. Among authors: jaakkola e. Mov Disord. 2024 Apr 8. doi: 10.1002/mds.29785. Online ahead of print. Mov Disord. 2024. PMID: 38586892
32 results