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Spinocerebellar Ataxia 48 Patient With a Novel De Novo Variant of STUB1

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참고문헌 (10)

  1. Genis D, "Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome(SCA48)", Neurology, 91, pp.e1988~e1998 (2018)
  2. De Michele G, "Spinocerebellar ataxia type 48 : last but not least", Neurol Sci, 41, pp.2423~2432 (2020)
  3. Landrum MJ, "ClinVar : public archive of interpretations of clinically relevant variants", Nucleic Acids Res, 44, pp.D862~D868 (2016)
  4. De Michele G, "Of cognition and cerebellum in SCA48", Neurogenetics, 21, pp.145~146 (2020)
  5. Mengel D, "A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype", J Neurol, 268, pp.3845~3851 (2021)
  6. Ravel JM, "Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia", J Neurol, 268, pp.1927~1937 (2021)
  7. Lieto M, "The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families", Eur J Neurol, 27, pp.498~505 (2020)
  8. Roux T, "Clinical, neuropathological, and genetic characterization of STUB1variants in cerebellar ataxias : a frequent cause of predominant cognitive impairment", Genet Med, 22, pp.1851~1862 (2020)
  9. Cocozza S, "The"crab sign" : an imaging feature of spinocerebellar ataxia type 48", Neuroradiology, 62, pp.1095~1103 (2020)
  10. Chen HY, "Clinical and functional characterization of a novel STUB1 frameshift mutation in autosomal dominant spinocerebellar ataxia type 48(SCA48)", J Biomed Sci, 28, pp.65~ (2021)

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