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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)
- 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)
- 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)
- 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)
- Liao YC, "Clinical and molecular characterization of PMP22 point mutations in Taiwanese patients with inherited neuropathy", Sci Rep, 7, pp.15363~ (2017)
- 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)
- 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)
- Ginanneschi F, "Sonographic and electrodiagnostic features of hereditary neuropathy with liability to pressure palsies", J Peripher Nerv Syst, 17, pp.391~398 (2012)
관련 논문AI추천
Sonographic Evaluation of the Peripheral Nerves in Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report김세화, 박범준, 양승남, 윤준식대한재활의학회 · Annals of Rehabilitation Medicine2014 · 제38권 제1호비전형적인 신경전도검사 소견을 보인 유전성압박마비편향신경병증 가족 1예김숙희, 김지영, 김희진, 박기덕, 오지영대한신경과학회 · 대한신경과학회지2005 · 제23권 제3호Atypical Presentation of Hereditary Neuropathy with Liability to Pressure Palsy: A Case Report신희동, 이승화, 정희섭대한근전도전기진단의학회 · 대한근전도 전기진단의학회지2021 · 제23권 제1호Does Hereditary Neuropathy with Liability to Pressure Palsy Predispose to Schwannomatosis?Aude-Marie Grapperon,, Fabrice Battaglia, Jérôme Franques, Pierre-Hugues Roche대한신경과학회 · Journal of Clinical Neurology2014 · 제10권 제4호A Novel HNPP Phenotype in Charcot-Marie-Tooth Type 2E With c.1319C>T Missense Mutation in the NEFL Gene김명신, 이정환, 임지숙, 최고운대한신경과학회 · Journal of Clinical Neurology2022 · 제18권 제2호ereditary Neuropathy with Liability to Pressure Palsies와 Charcot-Marie-Tooth1A 환자군의 신경전도검사 소견의 비교김상운, 김승민, 김지현, 이종윤, 정연경, 조정희, 최병옥, 선우일남대한신경과학회 · 대한신경과학회지2004 · 제22권 제4호
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