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PCNT point mutations and familial intracranial aneurysms.
Lorenzo-Betancor O, Blackburn PR, Edwards E, Vázquez-do-Campo R, Klee EW, Labbé C, Hodges K, Glover P, Sigafoos AN, Soto AI, Walton RL, Doxsey S, Bober MB, Jennings S, Clark KJ, Asmann Y, Miller D, Freeman WD, Meschia J, Ross OA. Lorenzo-Betancor O, et al. Neurology. 2018 Dec 4;91(23):e2170-e2181. doi: 10.1212/WNL.0000000000006614. Epub 2018 Nov 9. Neurology. 2018. PMID: 30413633 Free PMC article.
Epigenetic regulation in Parkinson's disease.
Labbé C, Lorenzo-Betancor O, Ross OA. Labbé C, et al. Acta Neuropathol. 2016 Oct;132(4):515-30. doi: 10.1007/s00401-016-1590-9. Epub 2016 Jun 29. Acta Neuropathol. 2016. PMID: 27358065 Free PMC article. Review.
X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia.
Blackburn PR, Lin WL, Miller DA, Lorenzo-Betancor O, Edwards ES, Zimmermann MT, Farrugia LP, Freeman WD, Soto AI, Walton RL, Klee EW, Atwal PS, Abraham RS, Billadeau DD, Ross OA, Dickson DW, Meschia JF. Blackburn PR, et al. Among authors: lorenzo betancor o. J Neuropathol Exp Neurol. 2019 May 1;78(5):460-466. doi: 10.1093/jnen/nlz018. J Neuropathol Exp Neurol. 2019. PMID: 30990878 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. Neurology. 2015 Dec 8;85(23):2016-25. doi: 10.1212/WNL.0000000000002170. Epub 2015 Nov 11. Neurology. 2015. PMID: 26561290 Free PMC article.
RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies.
Hodges K, Brewer SS, Labbé C, Soto-Ortolaza AI, Walton RL, Strongosky AJ, Uitti RJ, van Gerpen JA, Ertekin-Taner N, Kantarci K, Lowe VJ, Parisi JE, Savica R, Graff-Radford J, Jones DT, Knopman DS, Petersen RC, Murray ME, Graff-Radford NR, Ferman TJ, Dickson DW, Wszolek ZK, Boeve BF, Ross OA, Lorenzo-Betancor O. Hodges K, et al. Neurobiol Aging. 2016 Sep;45:107-108. doi: 10.1016/j.neurobiolaging.2016.03.021. Epub 2016 Mar 24. Neurobiol Aging. 2016. PMID: 27459931 Free PMC article.
Analysis of COQ2 gene in multiple system atrophy.
Ogaki K, Fujioka S, Heckman MG, Rayaprolu S, Soto-Ortolaza AI, Labbé C, Walton RL, Lorenzo-Betancor O, Wang X, Asmann Y, Rademakers R, Graff-Radford N, Uitti R, Cheshire WP, Wszolek ZK, Dickson DW, Ross OA. Ogaki K, et al. Mol Neurodegener. 2014 Nov 5;9:44. doi: 10.1186/1750-1326-9-44. Mol Neurodegener. 2014. PMID: 25373618 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. Neurology. 2015 Nov 10;85(19):1680-6. doi: 10.1212/WNL.0000000000001946. Epub 2015 Sep 2. Neurology. 2015. PMID: 26333800 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. Eur J Neurol. 2015 Sep;22(9):1323-5. doi: 10.1111/ene.12770. Eur J Neurol. 2015. PMID: 26278106 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. PLoS One. 2015 Jun 19;10(6):e0128586. doi: 10.1371/journal.pone.0128586. eCollection 2015. PLoS One. 2015. PMID: 26090850 Free PMC article.
57 results