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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Brain. 2024 Apr 4;147(4):1436-1456. doi: 10.1093/brain/awad380.
Brain. 2024.
PMID: 37951597
Free PMC article.
Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family.
Ullah W, Ilyas M, Tariq M, Imdad M, Ullah I, Efthymiou S, Faheem M, Abbas M; SYNAPS Study Group; Aamir M, Nouman M, Houlden H.
Ullah W, et al. Among authors: imdad m.
Int J Dev Neurosci. 2023 Jun;83(4):368-373. doi: 10.1002/jdn.10264. Epub 2023 Apr 25.
Int J Dev Neurosci. 2023.
PMID: 37186309
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Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approach.
Ilyas M, Salpietro V, Efthymiou S, Bourinaris T, Tariq A, Imdad M, Ahmad A, Ahmad H, Houlden H.
Ilyas M, et al. Among authors: imdad m.
Neurol Sci. 2020 Apr;41(4):851-857. doi: 10.1007/s10072-019-04113-w. Epub 2019 Dec 6.
Neurol Sci. 2020.
PMID: 31808001
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