Variants in Genes of Calpain System as Modifiers of Spinocerebellar Ataxia Type 3 Phenotype
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s12031-021-01877-9.pdf
Reference27 articles.
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2. Akçimen F, Martins S, Lian Calwing et al. (2019) Genome-wide association study identifies genetics factors that modify age at onset in Machado-Joseph disease. bioRxiv 834754; https://doi.org/10.1101/834754
3. Allen AS, Satten GA (2010) SNPs in CAST are associated with Parkinson disease: a confirmation study. Am J Med Genet B Neuropsychiatr Genet 153B:973–979. https://doi.org/10.1002/ajmg.b.31061
4. de Mattos EP, Musskopf MK, Torman VL, Saraiva-Pereira ML, Jardim LB (2018) Genetic risk factors for modulation of age at onset in Machado-Joseph disease/spinocerebellar ataxia type 3: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry 90:203–210
5. Goti D, Katzen SM, Mez J et al (2004) A mutant ataxin-3 putative-cleavage fragment in brains of Machado-Joseph disease patients and transgenic mice is cytotoxic above a critical concentration. J Neurosci 24:10266–10279. https://doi.org/10.1523/JNEUROSCI.2734-04
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