Loss of function of CMPK2 causes mitochondria deficiency and brain calcification
2022 · Cell Discovery · 51 citations
https://doi.org/10.1038/s41421-022-00475-2
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Ying‐Qian Lu
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10
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Ying‐Qian Lu is an academic researcher from Fujian Medical University. The author has contributed to research in topics: Neurogenetic and Muscular Disorders Research & Mitochondrial Function and Pathology & Parathyroid Disorders and Treatments. The author has an h-index of 10, co-authored 21 publications.
Papers by this author
worksModeling the phenotype of spinal muscular atrophy by the direct conversion of human fibroblasts to motor neurons
2017 · Oncotarget · 25 citations
https://doi.org/10.18632/oncotarget.14641
Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mutations in CAPN1 (SPG76)
2018 · Stem Cell Research · 8 citations
https://doi.org/10.1016/j.scr.2018.11.015
Clinical and functional characterization of a novel STUB1 mutation in a Chinese spinocerebellar ataxia 48 pedigree
2024 · Orphanet Journal of Rare Diseases · 1 citations
https://doi.org/10.1186/s13023-024-03456-8
Generation of an integration-free induced pluripotent stem cell line, FJMUUHi002-A, from a Rett syndrome patient with a heterozygous mutation p. R133C in MeCP2
2023 · Stem Cell Research · 0 citations
https://doi.org/10.1016/j.scr.2023.103268
Additional file 1: of Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China
2018 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.6789497
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