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Ultrasonography Findings in Hereditary Neuropathy with Liability to Pressure Palsies Due to Single-Nucleotide Substitution

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참고문헌 (7)

  1. van Paassen BW, "PMP22 related neuropathies : Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies", Orphanet J Rare Dis, 9, pp.38~ (2014)
  2. Koutsis G, "Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease", Brain, 135(Pt 8), pp.e217~ (2012)
  3. Fusco C, "Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene", Ital J Pediatr, 43, pp.97~ (2017)
  4. Liao YC, "Clinical and molecular characterization of PMP22 point mutations in Taiwanese patients with inherited neuropathy", Sci Rep, 7, pp.15363~ (2017)
  5. Nelis E, "Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies : a European collaborative study", Eur J Hum Genet, 4, pp.25~33 (1996)
  6. Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
  7. Ginanneschi F, "Sonographic and electrodiagnostic features of hereditary neuropathy with liability to pressure palsies", J Peripher Nerv Syst, 17, pp.391~398 (2012)

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