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The frequency and clinical impact of synonymous HTT loss-of-interruption and duplication-of-interruption variants in a diverse HD cohort.
Dawson J, Kay C, Black HF, Bortnick S, Javier K, Xia Q, Sandhu A, Buchanan C, Hogg V, Chang FCF, Goto J, Arning L, Saft C, Bijlsma EK, Nguyen HP, Roxburgh R, Hayden MR. Dawson J, et al. Among authors: bortnick s. Genet Med. 2024 Nov;26(11):101239. doi: 10.1016/j.gim.2024.101239. Epub 2024 Aug 10. Genet Med. 2024. PMID: 39140258 Free article.
DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study.
Trinh J, Gustavsson EK, Vilariño-Güell C, Bortnick S, Latourelle J, McKenzie MB, Tu CS, Nosova E, Khinda J, Milnerwood A, Lesage S, Brice A, Tazir M, Aasly JO, Parkkinen L, Haytural H, Foroud T, Myers RH, Sassi SB, Hentati E, Nabli F, Farhat E, Amouri R, Hentati F, Farrer MJ. Trinh J, et al. Among authors: bortnick s. Lancet Neurol. 2016 Nov;15(12):1248-1256. doi: 10.1016/S1474-4422(16)30203-4. Epub 2016 Sep 28. Lancet Neurol. 2016. PMID: 27692902
α-synuclein genetic variability: A biomarker for dementia in Parkinson disease.
Guella I, Evans DM, Szu-Tu C, Nosova E, Bortnick SF; SNCA Cognition Study Group; Goldman JG, Dalrymple-Alford JC, Geurtsen GJ, Litvan I, Ross OA, Middleton LT, Parkkinen L, Farrer MJ. Guella I, et al. Among authors: bortnick sf. Ann Neurol. 2016 Jun;79(6):991-9. doi: 10.1002/ana.24664. Epub 2016 May 5. Ann Neurol. 2016. PMID: 27091628 Free article.
Genetic Identification in Early Onset Parkinsonism among Norwegian Patients.
Gustavsson EK, Trinh J, McKenzie M, Bortnick S, Petersen MS, Farrer MJ, Aasly JO. Gustavsson EK, et al. Among authors: bortnick s. Mov Disord Clin Pract. 2017 May 23;4(4):499-508. doi: 10.1002/mdc3.12501. eCollection 2017 Jul-Aug. Mov Disord Clin Pract. 2017. PMID: 30363439 Free PMC article.
Mutant COQ2 in multiple-system atrophy.
Jeon BS, Farrer MJ, Bortnick SF; Korean Canadian Alliance on Parkinson’s Disease and Related Disorders. Jeon BS, et al. Among authors: bortnick sf. N Engl J Med. 2014 Jul 3;371(1):80. doi: 10.1056/NEJMc1311763. N Engl J Med. 2014. PMID: 24988567 No abstract available.
16 results