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Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
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.
AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range.
Salayev K, Rocca C, Kaiyrzhanov R, Guliyeva U, Guliyeva S, Mursalova A, Rahman F, Anwar N, Zafar F, Jan F, Rana N, Maqbool S; SYNAPS Study Group; QUEEN SQUARE Genomics; Efthymiou S, Houlden H.
Salayev K, et al.
Eur J Med Genet. 2022 Nov;65(11):104620. doi: 10.1016/j.ejmg.2022.104620. Epub 2022 Sep 16.
Eur J Med Genet. 2022.
PMID: 36122674
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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.
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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.
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