A Novel NPTX1 de novo Variant in a Late-Onset Ataxia Patient
- PMID: 35285082
- DOI: 10.1002/mds.28985
A Novel NPTX1 de novo Variant in a Late-Onset Ataxia Patient
References
-
- Coutelier M, Jacoupy M, Janer A, et al. NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia. Brain 2021;awab407. https://doi.org/10.1093/brain/awab407
-
- Uhlén M, Fagerberg L, Hallström BM, et al. Proteomics. Tissue-based map of the human proteome. Science 2015;347(6220):1260419. https://doi.org/10.1126/science.1260419
-
- Falb RJ, Müller AJ, Klein W, et al. Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex. J Med Genet 2021. Published Online First: https://doi.org/10.1136/jmedgenet-2021-108064
-
- Wang Z, Wang X, Zou H, et al. The basic characteristics of the pentraxin family and their functions in tumor progression. Front Immunol 2020;11:1757. https://doi.org/10.3389/fimmu.2020.01757
-
- Omeis IA, Hsu YC, Perin MS. Mouse and human neuronal pentraxin 1 (NPTX1): conservation, genomic structure, and chromosomal localization. Genomics 1996;36(3):543-545. https://doi.org/10.1006/geno.1996.0503
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