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Page 1
ApoE variant p.V236E is associated with markedly reduced risk of Alzheimer's disease.
Medway CW, Abdul-Hay S, Mims T, Ma L, Bisceglio G, Zou F, Pankratz S, Sando SB, Aasly JO, Barcikowska M, Siuda J, Wszolek ZK, Ross OA, Carrasquillo M, Dickson DW, Graff-Radford N, Petersen RC, Ertekin-Taner N, Morgan K, Bu G, Younkin SG. Medway CW, et al. Among authors: siuda j. Mol Neurodegener. 2014 Mar 10;9:11. doi: 10.1186/1750-1326-9-11. Mol Neurodegener. 2014. PMID: 24607147 Free PMC article.
Parkinsonian syndrome in familial frontotemporal dementia.
Siuda J, Fujioka S, Wszolek ZK. Siuda J, et al. Parkinsonism Relat Disord. 2014 Sep;20(9):957-64. doi: 10.1016/j.parkreldis.2014.06.004. Epub 2014 Jun 13. Parkinsonism Relat Disord. 2014. PMID: 24998994 Free PMC article. Review.
Early-onset Parkinson's disease due to PINK1 p.Q456X mutation--clinical and functional study.
Siuda J, Jasinska-Myga B, Boczarska-Jedynak M, Opala G, Fiesel FC, Moussaud-Lamodière EL, Scarffe LA, Dawson VL, Ross OA, Springer W, Dawson TM, Wszolek ZK. Siuda J, et al. Parkinsonism Relat Disord. 2014 Nov;20(11):1274-8. doi: 10.1016/j.parkreldis.2014.08.019. Epub 2014 Sep 2. Parkinsonism Relat Disord. 2014. PMID: 25226871 Free PMC article.
Exonic Re-Sequencing of the Chromosome 2q24.3 Parkinson's Disease Locus.
Labbé C, Ogaki K, Lorenzo-Betancor O, Carrasquillo MM, Heckman MG, McCarthy A, Soto-Ortolaza AI, Walton RL, Lynch T, Siuda J, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Dickson DW, Uitti RJ, Wszolek ZK, Ross OA. Labbé C, et al. Among authors: siuda j. PLoS One. 2015 Jun 19;10(6):e0128586. doi: 10.1371/journal.pone.0128586. eCollection 2015. PLoS One. 2015. PMID: 26090850 Free PMC article.
(Patho-)physiological relevance of PINK1-dependent ubiquitin phosphorylation.
Fiesel FC, Ando M, Hudec R, Hill AR, Castanedes-Casey M, Caulfield TR, Moussaud-Lamodière EL, Stankowski JN, Bauer PO, Lorenzo-Betancor O, Ferrer I, Arbelo JM, Siuda J, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Dickson DW, Springer W. Fiesel FC, et al. Among authors: siuda j. EMBO Rep. 2015 Sep;16(9):1114-30. doi: 10.15252/embr.201540514. Epub 2015 Jul 10. EMBO Rep. 2015. PMID: 26162776 Free PMC article.
DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients.
Lorenzo-Betancor O, Ogaki K, Soto-Ortolaza AI, Labbe C, Walton RL, Strongosky AJ, van Gerpen JA, Uitti RJ, McLean PJ, Springer W, Siuda J, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, McCarthy A, Lynch T, Puschmann A, Rektorova I, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Ferman TJ, Boeve BF, Petersen RC, Parisi JE, Graff-Radford NR, Dickson DW, Wszolek ZK, Ross OA. Lorenzo-Betancor O, et al. Among authors: siuda j. Eur J Neurol. 2015 Sep;22(9):1323-5. doi: 10.1111/ene.12770. Eur J Neurol. 2015. PMID: 26278106 Free PMC article.
Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies.
Labbé C, Ogaki K, Lorenzo-Betancor O, Soto-Ortolaza AI, Walton RL, Rayaprolu S, Fujioka S, Murray ME, Heckman MG, Puschmann A, McCarthy A, Lynch T, Siuda J, Opala G, Rudzinska M, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Sanotsky Y, Rektorová I, McLean PJ, Rademakers R, Ertekin-Taner N, Hassan A, Ahlskog JE, Boeve BF, Petersen RC, Maraganore DM, Adler CH, Ferman TJ, Parisi JE, Graff-Radford NR, Uitti RJ, Wszolek ZK, Dickson DW, Ross OA. Labbé C, et al. Among authors: siuda j. Neurology. 2015 Nov 10;85(19):1680-6. doi: 10.1212/WNL.0000000000001946. Epub 2015 Sep 2. Neurology. 2015. PMID: 26333800 Free PMC article.
Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders.
Ogaki K, Koga S, Heckman MG, Fiesel FC, Ando M, Labbé C, Lorenzo-Betancor O, Moussaud-Lamodière EL, Soto-Ortolaza AI, Walton RL, Strongosky AJ, Uitti RJ, McCarthy A, Lynch T, Siuda J, Opala G, Rudzinska M, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Puschmann A, Nishioka K, Funayama M, Hattori N, Parisi JE, Petersen RC, Graff-Radford NR, Boeve BF, Springer W, Wszolek ZK, Dickson DW, Ross OA. Ogaki K, et al. Among authors: siuda j. Neurology. 2015 Dec 8;85(23):2016-25. doi: 10.1212/WNL.0000000000002170. Epub 2015 Nov 11. Neurology. 2015. PMID: 26561290 Free PMC article.
Late-onset Alzheimer disease risk variants mark brain regulatory loci.
Allen M, Kachadoorian M, Carrasquillo MM, Karhade A, Manly L, Burgess JD, Wang C, Serie D, Wang X, Siuda J, Zou F, Chai HS, Younkin C, Crook J, Medway C, Nguyen T, Ma L, Malphrus K, Lincoln S, Petersen RC, Graff-Radford NR, Asmann YW, Dickson DW, Younkin SG, Ertekin-Taner N. Allen M, et al. Among authors: siuda j. Neurol Genet. 2015 Jul 23;1(2):e15. doi: 10.1212/NXG.0000000000000012. eCollection 2015 Aug. Neurol Genet. 2015. PMID: 27066552 Free PMC article.
Identification of genetic modifiers of age-at-onset for familial Parkinson's disease.
Hill-Burns EM, Ross OA, Wissemann WT, Soto-Ortolaza AI, Zareparsi S, Siuda J, Lynch T, Wszolek ZK, Silburn PA, Mellick GD, Ritz B, Scherzer CR, Zabetian CP, Factor SA, Breheny PJ, Payami H. Hill-Burns EM, et al. Among authors: siuda j. Hum Mol Genet. 2016 Sep 1;25(17):3849-3862. doi: 10.1093/hmg/ddw206. Epub 2016 Jul 11. Hum Mol Genet. 2016. PMID: 27402877 Free PMC article.
78 results