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449 results

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Page 1
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
Lehman A, Thouta S, Mancini GMS, Naidu S, van Slegtenhorst M, McWalter K, Person R, Mwenifumbo J, Salvarinova R; CAUSES Study; EPGEN Study; Guella I, McKenzie MB, Datta A, Connolly MB, Kalkhoran SM, Poburko D, Friedman JM, Farrer MJ, Demos M, Desai S, Claydon T. Lehman A, et al. Among authors: farrer mj. Am J Hum Genet. 2017 Jul 6;101(1):65-74. doi: 10.1016/j.ajhg.2017.05.016. Epub 2017 Jun 29. Am J Hum Genet. 2017. PMID: 28669405 Free PMC article.
VPS35 mutations in Parkinson disease.
Vilariño-Güell C, Wider C, Ross OA, Dachsel JC, Kachergus JM, Lincoln SJ, Soto-Ortolaza AI, Cobb SA, Wilhoite GJ, Bacon JA, Behrouz B, Melrose HL, Hentati E, Puschmann A, Evans DM, Conibear E, Wasserman WW, Aasly JO, Burkhard PR, Djaldetti R, Ghika J, Hentati F, Krygowska-Wajs A, Lynch T, Melamed E, Rajput A, Rajput AH, Solida A, Wu RM, Uitti RJ, Wszolek ZK, Vingerhoets F, Farrer MJ. Vilariño-Güell C, et al. Among authors: farrer mj. Am J Hum Genet. 2011 Jul 15;89(1):162-7. doi: 10.1016/j.ajhg.2011.06.001. Am J Hum Genet. 2011. PMID: 21763482 Free PMC article.
DNAJC13 mutations in Parkinson disease.
Vilariño-Güell C, Rajput A, Milnerwood AJ, Shah B, Szu-Tu C, Trinh J, Yu I, Encarnacion M, Munsie LN, Tapia L, Gustavsson EK, Chou P, Tatarnikov I, Evans DM, Pishotta FT, Volta M, Beccano-Kelly D, Thompson C, Lin MK, Sherman HE, Han HJ, Guenther BL, Wasserman WW, Bernard V, Ross CJ, Appel-Cresswell S, Stoessl AJ, Robinson CA, Dickson DW, Ross OA, Wszolek ZK, Aasly JO, Wu RM, Hentati F, Gibson RA, McPherson PS, Girard M, Rajput M, Rajput AH, Farrer MJ. Vilariño-Güell C, et al. Among authors: farrer mj. Hum Mol Genet. 2014 Apr 1;23(7):1794-801. doi: 10.1093/hmg/ddt570. Epub 2013 Nov 11. Hum Mol Genet. 2014. PMID: 24218364 Free PMC article.
DNAJC13 genetic variants in parkinsonism.
Gustavsson EK, Trinh J, Guella I, Vilariño-Güell C, Appel-Cresswell S, Stoessl AJ, Tsui JK, McKeown M, Rajput A, Rajput AH, Aasly JO, Farrer MJ. Gustavsson EK, et al. Among authors: farrer mj. Mov Disord. 2015 Feb;30(2):273-8. doi: 10.1002/mds.26064. Epub 2014 Nov 12. Mov Disord. 2015. PMID: 25393719
Parkinson's disease, genetic variability and the Faroe Islands.
Petersen MS, Guella I, Bech S, Gustavsson E, Farrer MJ. Petersen MS, et al. Among authors: farrer mj. Parkinsonism Relat Disord. 2015 Jan;21(1):75-8. doi: 10.1016/j.parkreldis.2014.10.027. Epub 2014 Nov 4. Parkinsonism Relat Disord. 2015. PMID: 25466404
Parkinsonism in GTP cyclohydrolase 1 mutation carriers.
Guella I, Sherman HE, Appel-Cresswell S, Rajput A, Rajput AH, Farrer MJ. Guella I, et al. Among authors: farrer mj. Brain. 2015 May;138(Pt 5):e349. doi: 10.1093/brain/awu341. Epub 2014 Dec 13. Brain. 2015. PMID: 25497597 Free PMC article. No abstract available.
Novel LRRK2 mutations in Parkinsonism.
Trinh J, Guella I, McKenzie M, Gustavsson EK, Szu-Tu C, Petersen MS, Rajput A, Rajput AH, McKeown M, Jeon BS, Aasly JO, Bardien S, Farrer MJ. Trinh J, et al. Among authors: farrer mj. Parkinsonism Relat Disord. 2015 Sep;21(9):1119-21. doi: 10.1016/j.parkreldis.2015.07.011. Epub 2015 Jul 18. Parkinsonism Relat Disord. 2015. PMID: 26213354 No abstract available.
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: farrer mj. Ann Neurol. 2016 Jun;79(6):991-9. doi: 10.1002/ana.24664. Epub 2016 May 5. Ann Neurol. 2016. PMID: 27091628 Free article.
DCTN1 p.K56R in progressive supranuclear palsy.
Gustavsson EK, Trinh J, Guella I, Szu-Tu C, Khinda J, Lin CH, Wu RM, Stoessl J, Appel-Cresswell S, McKeown M, Rajput A, Rajput AH, Petersen MS, Jeon BS, Aasly JO, Farrer MJ. Gustavsson EK, et al. Among authors: farrer mj. Parkinsonism Relat Disord. 2016 Jul;28:56-61. doi: 10.1016/j.parkreldis.2016.04.025. Epub 2016 Apr 23. Parkinsonism Relat Disord. 2016. PMID: 27132499
Conjugal parkinsonism is coincidental.
Rajput AH, Ferguson LW, Robinson CA, Guella I, Farrer MJ, Rajput A. Rajput AH, et al. Among authors: farrer mj. Parkinsonism Relat Disord. 2016 Dec;33:149-150. doi: 10.1016/j.parkreldis.2016.10.004. Epub 2016 Oct 7. Parkinsonism Relat Disord. 2016. PMID: 27743700 No abstract available.
De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.
Guella I, Huh L, McKenzie MB, Toyota EB, Bebin EM, Thompson ML, Cooper GM, Evans DM, Buerki SE, Adam S, Van Allen MI, Nelson TN, Connolly MB, Farrer MJ, Demos M. Guella I, et al. Among authors: farrer mj. Neurol Genet. 2016 Nov 10;2(6):e120. doi: 10.1212/NXG.0000000000000120. eCollection 2016 Dec. Neurol Genet. 2016. PMID: 27872899 Free PMC article.
SCA2 family presenting as typical Parkinson's disease: 34 year follow up.
Kim YE, Jeon B, Farrer MJ, Scott E, Guella I, Park SS, Kim JM, Park HY, Kim A, Son YD, Cho ZH. Kim YE, et al. Among authors: farrer mj. Parkinsonism Relat Disord. 2017 Jul;40:69-72. doi: 10.1016/j.parkreldis.2017.04.003. Epub 2017 Apr 12. Parkinsonism Relat Disord. 2017. PMID: 28462804
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
Guella I, McKenzie MB, Evans DM, Buerki SE, Toyota EB, Van Allen MI; Epilepsy Genomics Study; Suri M, Elmslie F; Deciphering Developmental Disorders Study; Simon MEH, van Gassen KLI, Héron D, Keren B, Nava C, Connolly MB, Demos M, Farrer MJ. Guella I, et al. Among authors: farrer mj. Am J Hum Genet. 2017 Aug 3;101(2):300-310. doi: 10.1016/j.ajhg.2017.07.004. Am J Hum Genet. 2017. PMID: 28777935 Free PMC article.
Dopamine receptors and BDNF-haplotypes predict dyskinesia in Parkinson's disease.
Kusters CDJ, Paul KC, Guella I, Bronstein JM, Sinsheimer JS, Farrer MJ, Ritz BR. Kusters CDJ, et al. Among authors: farrer mj. Parkinsonism Relat Disord. 2018 Feb;47:39-44. doi: 10.1016/j.parkreldis.2017.11.339. Epub 2017 Nov 24. Parkinsonism Relat Disord. 2018. PMID: 29191473 Free PMC article.
449 results