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Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Poole OV, Pizzamiglio C, Murphy D, Falabella M, Macken WL, Bugiardini E, Woodward CE, Labrum R, Efthymiou S, Salpietro V, Chelban V, Kaiyrzhanov R, Maroofian R; SYNaPS Study Group; Amato AA, Gregory A, Hayflick SJ; Queen Square Genomics; Jonvik H, Wood N, Houlden H, Vandrovcova J, Hanna MG, Pittman A, Pitceathly RDS. Poole OV, et al. Ann Neurol. 2021 Jun;89(6):1240-1247. doi: 10.1002/ana.26063. Epub 2021 Apr 1. Ann Neurol. 2021. PMID: 33704825 Free PMC article.
Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders.
Gilley J, Jackson O, Pipis M, Estiar MA, Al-Chalabi A, Danzi MC, van Eijk KR, Goutman SA, Harms MB, Houlden H, Iacoangeli A, Kaye J, Lima L; Queen Square Genomics; Ravits J, Rouleau GA, Schüle R, Xu J, Züchner S, Cooper-Knock J, Gan-Or Z, Reilly MM, Coleman MP. Gilley J, et al. Elife. 2021 Nov 19;10:e70905. doi: 10.7554/eLife.70905. Elife. 2021. PMID: 34796871 Free PMC article.
A novel variant of GALC in a familial case of Krabbe disease: Insights from structural bioinformatics and molecular dynamics simulation.
Ullah I, Waqas M, Ilyas M, Halim SA, Ahmad A, Dominik N, Ullah W, Abbas M, Aamir M; SYNaPS Study Group; Queen Square Genomics; Houlden H, Efthymiou S, Khan A, Al-Harrasi A. Ullah I, et al. Genes Dis. 2023 Apr 23;10(6):2263-2266. doi: 10.1016/j.gendis.2023.01.018. eCollection 2023 Nov. Genes Dis. 2023. PMID: 37554178 Free PMC article. No abstract available.