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Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings.
López de Munain A, Alzualde A, Gorostidi A, Otaegui D, Ruiz-Martínez J, Indakoetxea B, Ferrer I, Pérez-Tur J, Sáenz A, Bergareche A, Barandiarán M, Poza JJ, Zabalza R, Ruiz I, Urtasun M, Fernández-Manchola I, Olasagasti B, Espinal JB, Olaskoaga J, Ruibal M, Moreno F, Carrera N, Martí Massó JF. López de Munain A, et al. Biol Psychiatry. 2008 May 15;63(10):946-52. doi: 10.1016/j.biopsych.2007.08.015. Epub 2007 Oct 22. Biol Psychiatry. 2008. PMID: 17950702
Motor and nonmotor heterogeneity of LRRK2-related and idiopathic Parkinson's disease.
Marras C, Alcalay RN, Caspell-Garcia C, Coffey C, Chan P, Duda JE, Facheris MF, Fernández-Santiago R, Ruíz-Martínez J, Mestre T, Saunders-Pullman R, Pont-Sunyer C, Tolosa E, Waro B; LRRK2 Cohort Consortium. Marras C, et al. Mov Disord. 2016 Aug;31(8):1192-202. doi: 10.1002/mds.26614. Epub 2016 Apr 19. Mov Disord. 2016. PMID: 27091104
Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry.
Lee AJ, Wang Y, Alcalay RN, Mejia-Santana H, Saunders-Pullman R, Bressman S, Corvol JC, Brice A, Lesage S, Mangone G, Tolosa E, Pont-Sunyer C, Vilas D, Schüle B, Kausar F, Foroud T, Berg D, Brockmann K, Goldwurm S, Siri C, Asselta R, Ruiz-Martinez J, Mondragón E, Marras C, Ghate T, Giladi N, Mirelman A, Marder K; Michael J. Fox LRRK2 Cohort Consortium. Lee AJ, et al. Mov Disord. 2017 Oct;32(10):1432-1438. doi: 10.1002/mds.27059. Epub 2017 Jun 22. Mov Disord. 2017. PMID: 28639421 Free PMC article.
Parkinson disease-associated mutations in LRRK2 cause centrosomal defects via Rab8a phosphorylation.
Madero-Pérez J, Fdez E, Fernández B, Lara Ordóñez AJ, Blanca Ramírez M, Gómez-Suaga P, Waschbüsch D, Lobbestael E, Baekelandt V, Nairn AC, Ruiz-Martínez J, Aiastui A, López de Munain A, Lis P, Comptdaer T, Taymans JM, Chartier-Harlin MC, Beilina A, Gonnelli A, Cookson MR, Greggio E, Hilfiker S. Madero-Pérez J, et al. Mol Neurodegener. 2018 Jan 23;13(1):3. doi: 10.1186/s13024-018-0235-y. Mol Neurodegener. 2018. PMID: 29357897 Free PMC article.
Cancer outcomes among Parkinson's disease patients with leucine rich repeat kinase 2 mutations, idiopathic Parkinson's disease patients, and nonaffected controls.
Agalliu I, Ortega RA, Luciano MS, Mirelman A, Pont-Sunyer C, Brockmann K, Vilas D, Tolosa E, Berg D, Warø B, Glickman A, Raymond D, Inzelberg R, Ruiz-Martinez J, Mondragon E, Friedman E, Hassin-Baer S, Alcalay RN, Mejia-Santana H, Aasly J, Foroud T, Marder K, Giladi N, Bressman S, Saunders-Pullman R. Agalliu I, et al. Mov Disord. 2019 Sep;34(9):1392-1398. doi: 10.1002/mds.27807. Epub 2019 Jul 26. Mov Disord. 2019. PMID: 31348549 Free PMC article.
162 results