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Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia.
Maroilley T, Wright NAM, Diao C, MacLaren L, Pfeffer G, Sarna JR, Billie Au PY, Tarailo-Graovac M. Maroilley T, et al. Among authors: sarna jr. Front Genet. 2022 Jan 25;13:815210. doi: 10.3389/fgene.2022.815210. eCollection 2022. Front Genet. 2022. PMID: 35145552 Free PMC article.
Cerebellar Brain Inhibition Is Associated With the Severity of Cervical Dystonia.
Sondergaard RE, Strzalkowski NDJ, Gan LS, Jasaui Y, Furtado S, Pringsheim TM, Sarna JR, Avanzino L, Kiss ZHT, Martino D. Sondergaard RE, et al. Among authors: sarna jr. J Clin Neurophysiol. 2023 May 1;40(4):293-300. doi: 10.1097/WNP.0000000000000884. Epub 2021 Jul 27. J Clin Neurophysiol. 2023. PMID: 34334683
Investigating the relationship between the SNCA gene and cognitive abilities in idiopathic Parkinson's disease using machine learning.
Ramezani M, Mouches P, Yoon E, Rajashekar D, Ruskey JA, Leveille E, Martens K, Kibreab M, Hammer T, Kathol I, Maarouf N, Sarna J, Martino D, Pfeffer G, Gan-Or Z, Forkert ND, Monchi O. Ramezani M, et al. Among authors: sarna j. Sci Rep. 2021 Mar 1;11(1):4917. doi: 10.1038/s41598-021-84316-4. Sci Rep. 2021. PMID: 33649398 Free PMC article.
49 results