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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: guella i. 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.
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. 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.
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. Neurol Genet. 2016 Nov 10;2(6):e120. doi: 10.1212/NXG.0000000000000120. eCollection 2016 Dec. Neurol Genet. 2016. PMID: 27872899 Free PMC article.
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Demos M, Guella I, DeGuzman C, McKenzie MB, Buerki SE, Evans DM, Toyota EB, Boelman C, Huh LL, Datta A, Michoulas A, Selby K, Bjornson BH, Horvath G, Lopez-Rangel E, van Karnebeek CDM, Salvarinova R, Slade E, Eydoux P, Adam S, Van Allen MI, Nelson TN, Bolbocean C, Connolly MB, Farrer MJ. Demos M, et al. Among authors: guella i. Front Neurol. 2019 May 21;10:434. doi: 10.3389/fneur.2019.00434. eCollection 2019. Front Neurol. 2019. PMID: 31164858 Free PMC article.
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: guella i. 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
Hunting for Familial Parkinson's Disease Mutations in the Post Genome Era.
Bentley SR, Guella I, Sherman HE, Neuendorf HM, Sykes AM, Fowdar JY, Silburn PA, Wood SA, Farrer MJ, Mellick GD. Bentley SR, et al. Among authors: guella i. Genes (Basel). 2021 Mar 17;12(3):430. doi: 10.3390/genes12030430. Genes (Basel). 2021. PMID: 33802862 Free PMC article.
Parkinsonism in GTP cyclohydrolase 1 mutation carriers.
Guella I, Sherman HE, Appel-Cresswell S, Rajput A, Rajput AH, Farrer MJ. Guella I, et al. 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.
RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.
Elliott AM, du Souich C, Lehman A, Guella I, Evans DM, Candido T, Tooman L, Armstrong L, Clarke L, Gibson W, Gill H, Lavoie PM, Lewis S, McKinnon ML, Nikkel SM, Patel M, Solimano A, Synnes A, Ting J, van Allen M, Christilaw J, Farrer MJ, Friedman JM, Osiovich H. Elliott AM, et al. Among authors: guella i. Eur J Pediatr. 2019 Aug;178(8):1207-1218. doi: 10.1007/s00431-019-03399-4. Epub 2019 Jun 7. Eur J Pediatr. 2019. PMID: 31172278
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: guella i. 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.
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: guella i. 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
Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Trivisano M, Ferretti A, Bebin E, Huh L, Lesca G, Siekierska A, Takeguchi R, Carneiro M, De Palma L, Guella I, Haginoya K, Shi RM, Kikuchi A, Kobayashi T, Jung J, Lagae L, Milh M, Mathieu ML, Minassian BA, Novelli A, Pietrafusa N, Takeshita E, Tartaglia M, Terracciano A, Thompson ML, Cooper GM, Vigevano F, Villard L, Villeneuve N, Buyse GM, Demos M, Scheffer IE, Specchio N. Trivisano M, et al. Among authors: guella i. Epilepsia. 2020 Jul;61(7):e71-e78. doi: 10.1111/epi.16582. Epub 2020 Jul 9. Epilepsia. 2020. PMID: 32645220 Free PMC article.
59 results