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Page 1
R1441G but not G2019S mutation enhances LRRK2 mediated Rab10 phosphorylation in human peripheral blood neutrophils.
Fan Y, Nirujogi RS, Garrido A, Ruiz-Martínez J, Bergareche-Yarza A, Mondragón-Rezola E, Vinagre-Aragón A, Croitoru I, Gorostidi Pagola A, Paternain Markinez L, Alcalay R, Hickman RA, Düring J, Gomes S, Pratuseviciute N, Padmanabhan S, Valldeoriola F, Pérez Sisqués L, Malagelada C, Ximelis T, Molina Porcel L, Martí MJ, Tolosa E, Alessi DR, Sammler EM. Fan Y, et al. Acta Neuropathol. 2021 Sep;142(3):475-494. doi: 10.1007/s00401-021-02325-z. Epub 2021 Jun 14. Acta Neuropathol. 2021. PMID: 34125248 Free PMC article.
Αlpha-synuclein levels in blood plasma from LRRK2 mutation carriers.
Gorostidi A, Bergareche A, Ruiz-Martínez J, Martí-Massó JF, Cruz M, Varghese S, Qureshi MM, Alzahmi F, Al-Hayani A, López de Munáin A, El-Agnaf OM. Gorostidi A, et al. PLoS One. 2012;7(12):e52312. doi: 10.1371/journal.pone.0052312. Epub 2012 Dec 27. PLoS One. 2012. PMID: 23300640 Free PMC article.
Michael J. Fox Foundation LRRK2 Consortium: geographical differences in returning genetic research data to study participants.
Alcalay RN, Aasly J, Berg D, Bressman S, Brice A, Brockmann K, Chan P, Clark L, Cormier F, Corvol JC, Durr A, Facheris M, Farrer M, Foroud TM, Gasser T, Giladi N, Halter C, Lang A, Langston JW, Marras C, Marti-Masso JF, Ruiz Martinez J, Mejia-Santana H, Mirelman A, Pont-Sunyer C, Orr-Urtreger A, Raymond D, Saunders-Pullman R, Schüle B, Tanner C, Tolosa E, Urkowitz A, Vilas D, Wise A, Marder K. Alcalay RN, et al. Genet Med. 2014 Aug;16(8):644-5. doi: 10.1038/gim.2014.55. Genet Med. 2014. PMID: 25093570 Free PMC article. No abstract available.
Cognitive dysfunction in Parkinson's disease related to the R1441G mutation in LRRK2.
Estanga A, Rodriguez-Oroz MC, Ruiz-Martinez J, Barandiaran M, Gorostidi A, Bergareche A, Mondragon E, Lopez de Munain A, Marti-Masso JF. Estanga A, et al. Parkinsonism Relat Disord. 2014 Oct;20(10):1097-100. doi: 10.1016/j.parkreldis.2014.07.005. Epub 2014 Jul 30. Parkinsonism Relat Disord. 2014. PMID: 25127457
Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease.
Kalia LV, Lang AE, Hazrati LN, Fujioka S, Wszolek ZK, Dickson DW, Ross OA, Van Deerlin VM, Trojanowski JQ, Hurtig HI, Alcalay RN, Marder KS, Clark LN, Gaig C, Tolosa E, Ruiz-Martínez J, Marti-Masso JF, Ferrer I, López de Munain A, Goldman SM, Schüle B, Langston JW, Aasly JO, Giordana MT, Bonifati V, Puschmann A, Canesi M, Pezzoli G, Maues De Paula A, Hasegawa K, Duyckaerts C, Brice A, Stoessl AJ, Marras C. Kalia LV, et al. JAMA Neurol. 2015 Jan;72(1):100-5. doi: 10.1001/jamaneurol.2014.2704. JAMA Neurol. 2015. PMID: 25401511 Free PMC article.
170 results