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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: vilarino guell c. Brain. 2023 Jul 3;146(7):2753-2765. doi: 10.1093/brain/awac464. Brain. 2023. PMID: 36478228 Free PMC article.
A Whole-Genome Sequencing Study Implicates GRAMD1B in Multiple Sclerosis Susceptibility.
Esposito F, Osiceanu AM, Sorosina M, Ottoboni L, Bollman B, Santoro S, Bettegazzi B, Zauli A, Clarelli F, Mascia E, Calabria A, Zacchetti D, Capra R, Ferrari M, Provero P, Lazarevic D, Cittaro D, Carrera P, Patsopoulos N, Toniolo D, Sadovnick AD, Martino G, De Jager PL, Comi G, Stupka E, Vilariño-Güell C, Piccio L, Martinelli Boneschi F. Esposito F, et al. Among authors: vilarino guell c. Genes (Basel). 2022 Dec 16;13(12):2392. doi: 10.3390/genes13122392. Genes (Basel). 2022. PMID: 36553660 Free PMC article.
PTHR1 polymorphisms influence BMD variation through effects on the growing skeleton.
Vilariño-Güell C, Miles LJ, Duncan EL, Ralston SH, Compston JE, Cooper C, Langdahl BL, Maclelland A, Pols HA, Reid DM, Uitterlinden AG, Steer CD, Tobias JH, Wass JA, Brown MA. Vilariño-Güell C, et al. Calcif Tissue Int. 2007 Oct;81(4):270-8. doi: 10.1007/s00223-007-9072-7. Epub 2007 Sep 21. Calcif Tissue Int. 2007. PMID: 17885720
LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease.
Vilariño-Güell C, Wider C, Ross OA, Jasinska-Myga B, Kachergus J, Cobb SA, Soto-Ortolaza AI, Behrouz B, Heckman MG, Diehl NN, Testa CM, Wszolek ZK, Uitti RJ, Jankovic J, Louis ED, Clark LN, Rajput A, Farrer MJ. Vilariño-Güell C, et al. Neurogenetics. 2010 Oct;11(4):401-8. doi: 10.1007/s10048-010-0241-x. Epub 2010 Apr 6. Neurogenetics. 2010. PMID: 20369371 Free PMC article.
117 results