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Quoted phrase not found in phrase index: "Striatonigral degeneration, childhood-onset"
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Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration.
Liao S, Chen T, Dai Y, Wang Y, Wu F, Zhong M. Liao S, et al. Mol Genet Genomic Med. 2020 Feb;8(2):e1101. doi: 10.1002/mgg3.1101. Epub 2019 Dec 26. Mol Genet Genomic Med. 2020. PMID: 31876398 Free PMC article. Review.
VAC14 pathogenic variants cause prominent vacuolation of neurons in basal ganglia of patients with childhood-onset striatonigral degeneration (SNDC). METHODS: We identified two siblings with SNDC. ...CONCLUSION: We present novel compound heterozygous variants (c.174 …
VAC14 pathogenic variants cause prominent vacuolation of neurons in basal ganglia of patients with childhood-onset striatonigral d …
Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literature.
Baumann H, Tunc S, Günther A, Münchau A, Lohmann K, Brüggemann N. Baumann H, et al. Parkinsonism Relat Disord. 2020 Nov;80:41-46. doi: 10.1016/j.parkreldis.2020.09.012. Epub 2020 Sep 11. Parkinsonism Relat Disord. 2020. PMID: 32949958 Review.
BACKGROUND: Pathogenic variants in the VAC14 component of PIKFYVE complex (VAC14) gene have been identified as a cause of a childhood-onset complex dystonia with striato-nigral degeneration. VAC14 is a scaffold protein relevant for the regulation of phosphatidylinositol 3, …
BACKGROUND: Pathogenic variants in the VAC14 component of PIKFYVE complex (VAC14) gene have been identified as a cause of a childhood-onset …