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A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia

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참고문헌 (5)

  1. De Souza PVS, "Hereditary spastic paraplegia : clinical and genetic hallmarks", Cerebellum, 16, pp.525~551 (2017)
  2. Gan-Or Z, "Mutations in CAPN1 cause autosomal-recessive hereditary spastic paraplegia", Am J Hum Genet, 98, pp.1038~1046 (2016)
  3. Wang Y, "Defects in the CAPN1 gene result in alterations in cerebellar development and cerebellar ataxia in mice and humans", Cell Rep, 16, pp.79~91 (2016)
  4. Simonson L, "Regional distribution of soluble calcium activated proteinase activity in neonatal and adult rat brain", Brain Res, 327, pp.153~159 (1985)
  5. Forman OP, "Missense mutation in CAPN1is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed", PLoS One, 8, pp.e64627~ (2013)

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