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Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.
Hebert E, Borngräber F, Schmidt A, Rakovic A, Brænne I, Weissbach A, Hampf J, Vollstedt EJ, Größer L, Schaake S, Müller M, Manzoor H, Jabusch HC, Alvarez-Fischer D, Kasten M, Kostic VS, Gasser T, Zeuner KE, Kim HJ, Jeon B, Bauer P, Altenmüller E, Klein C, Lohmann K. Hebert E, et al. Among authors: manzoor h. Genes (Basel). 2017 Oct 18;8(10):276. doi: 10.3390/genes8100276. Genes (Basel). 2017. PMID: 29057844 Free PMC article. Review.
A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1.
Manzoor H, Bukhari I, Wajid M, Zhang Y, Zhang H, Brüggemann N, Klein C, Shi Q, Naz S. Manzoor H, et al. J Clin Neurol. 2017 Jul;13(3):303-305. doi: 10.3988/jcn.2017.13.3.303. Epub 2017 May 15. J Clin Neurol. 2017. PMID: 28516743 Free PMC article. No abstract available.
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.
Rasheed A, Gumus E, Zaki M, Johnson K, Manzoor H, LaForce G, Ross D, McEvoy-Venneri J, Stanley V, Lee S, Virani A, Ben-Omran T, Gleeson JG, Naz S, Schaffer A. Rasheed A, et al. Among authors: manzoor h. J Med Genet. 2021 Apr;58(4):237-246. doi: 10.1136/jmedgenet-2020-106849. Epub 2020 May 21. J Med Genet. 2021. PMID: 32439809 Free PMC article.
Effect of Clemastine on Neurophysiological Outcomes in an Ovine Model of Neonatal Hypoxic-Ischemic Encephalopathy.
Mike JK, White Y, Hutchings RS, Vento C, Ha J, Iranmahboub A, Manzoor H, Gunewardena A, Cheah C, Wang A, Goudy BD, Lakshminrusimha S, Long-Boyle J, Fineman JR, Ferriero DM, Maltepe E. Mike JK, et al. Among authors: manzoor h. Children (Basel). 2023 Oct 25;10(11):1728. doi: 10.3390/children10111728. Children (Basel). 2023. PMID: 38002819 Free PMC article.
50 results