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Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease.
Trinh J, Hicks AA, König IR, Delcambre S, Lüth T, Schaake S, Wasner K, Ghelfi J, Borsche M, Vilariño-Güell C, Hentati F, Germer EL, Bauer P, Takanashi M, Kostić V, Lang AE, Brüggemann N, Pramstaller PP, Pichler I, Rajput A, Hattori N, Farrer MJ, Lohmann K, Weissensteiner H, May P, Klein C, Grünewald A. Trinh J, et al. Among authors: pichler i. Brain. 2023 Jul 3;146(7):2753-2765. doi: 10.1093/brain/awac464. Brain. 2023. PMID: 36478228 Free PMC article.
Co-occurrence of restless legs syndrome and Parkin mutations in two families.
Adel S, Djarmati A, Kabakci K, Pichler I, Eskelson C, Lohnau T, Kock N, Hagenah J, Hedrich K, Schwinger E, Kramer PL, Pramstaller PP, Klein C. Adel S, et al. Among authors: pichler i. Mov Disord. 2006 Feb;21(2):258-63. doi: 10.1002/mds.20690. Mov Disord. 2006. PMID: 16161156
Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis.
Johansson A, Marroni F, Hayward C, Franklin CS, Kirichenko AV, Jonasson I, Hicks AA, Vitart V, Isaacs A, Axenovich T, Campbell S, Dunlop MG, Floyd J, Hastie N, Hofman A, Knott S, Kolcic I, Pichler I, Polasek O, Rivadeneira F, Tenesa A, Uitterlinden AG, Wild SH, Zorkoltseva IV, Meitinger T, Wilson JF, Rudan I, Campbell H, Pattaro C, Pramstaller P, Oostra BA, Wright AF, van Duijn CM, Aulchenko YS, Gyllensten U; EUROSPAN Consortium. Johansson A, et al. Among authors: pichler i. Hum Mol Genet. 2009 Jan 15;18(2):373-80. doi: 10.1093/hmg/ddn350. Epub 2008 Oct 24. Hum Mol Genet. 2009. PMID: 18952825 Free PMC article.
ParkScreen: a low-cost rapid linkage marker panel for Parkinson's disease.
De Grandi A, Volpato CB, Bedin E, Pattaro C, Marroni F, Pichler I, Hicks AA, Casari G, Pramstaller PP. De Grandi A, et al. Among authors: pichler i. J Mol Neurosci. 2009 Sep;39(1-2):235-41. doi: 10.1007/s12031-009-9193-8. Epub 2009 Mar 25. J Mol Neurosci. 2009. PMID: 19319700
Genome-wide linkage analysis of serum creatinine in three isolated European populations.
Pattaro C, Aulchenko YS, Isaacs A, Vitart V, Hayward C, Franklin CS, Polasek O, Kolcic I, Biloglav Z, Campbell S, Hastie N, Lauc G, Meitinger T, Oostra BA, Gyllensten U, Wilson JF, Pichler I, Hicks AA, Campbell H, Wright AF, Rudan I, van Duijn CM, Riegler P, Marroni F, Pramstaller PP; EUROSPAN Consortium. Pattaro C, et al. Among authors: pichler i. Kidney Int. 2009 Aug;76(3):297-306. doi: 10.1038/ki.2009.135. Epub 2009 Apr 22. Kidney Int. 2009. PMID: 19387472 Free article.
95 results