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Page 1
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.
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.
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.
A candidate regulatory variant at the TREM gene cluster associates with decreased Alzheimer's disease risk and increased TREML1 and TREM2 brain gene expression.
Carrasquillo MM, Allen M, Burgess JD, Wang X, Strickland SL, Aryal S, Siuda J, Kachadoorian ML, Medway C, Younkin CS, Nair A, Wang C, Chanana P, Serie D, Nguyen T, Lincoln S, Malphrus KG, Morgan K, Golde TE, Price ND, White CC, De Jager PL, Bennett DA, Asmann YW, Crook JE, Petersen RC, Graff-Radford NR, Dickson DW, Younkin SG, Ertekin-Taner N. Carrasquillo MM, et al. Among authors: siuda j. Alzheimers Dement. 2017 Jun;13(6):663-673. doi: 10.1016/j.jalz.2016.10.005. Epub 2016 Dec 8. Alzheimers Dement. 2017. PMID: 27939925 Free PMC article.
Sensitive ELISA-based detection method for the mitophagy marker p-S65-Ub in human cells, autopsy brain, and blood samples.
Watzlawik JO, Hou X, Fricova D, Ramnarine C, Barodia SK, Gendron TF, Heckman MG, DeTure M, Siuda J, Wszolek ZK, Scherzer CR, Ross OA, Bu G, Dickson DW, Goldberg MS, Fiesel FC, Springer W. Watzlawik JO, et al. Among authors: siuda j. Autophagy. 2021 Sep;17(9):2613-2628. doi: 10.1080/15548627.2020.1834712. Epub 2020 Oct 28. Autophagy. 2021. PMID: 33112198 Free PMC article.
79 results