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Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization.
Mov Disord. 2024 Jan;39(1):152-163. doi: 10.1002/mds.29664. Epub 2023 Nov 28.
Mov Disord. 2024.
PMID: 38014483
Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency.
Li YL, Lin J, Huang X, Zeng RH, Zhang G, Xu JN, Lin KJ, Chen XS, He MF, Qiao JD, Cheng X, Zhu D, Xiong ZQ, Chen WJ.
Li YL, et al.
Ann Neurol. 2024 Oct;96(4):758-773. doi: 10.1002/ana.27018. Epub 2024 Jul 9.
Ann Neurol. 2024.
PMID: 38979912
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