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Volumn 83, Issue 7, 2014, Pages 580-581

The spectrum of axonopathies: From CMT2 to HSP

Author keywords

[No Author keywords available]

Indexed keywords

CEREBELLAR ATAXIA; COGNITIVE DEFECT; EDITORIAL; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MISSENSE MUTATION; NERVE FIBER TRANSPORT; NEUROPATHY; NEXT GENERATION SEQUENCING; PHENOTYPE; PRIORITY JOURNAL; PYRAMIDAL SIGN; SPASTIC PARAPLEGIA; FEMALE; GENETICS; MALE; MUTATION; NOTE;

EID: 84907424670     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000700     Document Type: Editorial
Times cited : (12)

References (5)
  • 1
    • 84879798017 scopus 로고    scopus 로고
    • Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias
    • Timmerman V, Clowes VE, Reid E. Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias. Exp Neurol 2013; 246:14-25.
    • (2013) Exp Neurol , vol.246 , pp. 14-25
    • Timmerman, V.1    Clowes, V.E.2    Reid, E.3
  • 2
    • 64049111042 scopus 로고    scopus 로고
    • Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10
    • Goizet C, Boukhris A, Mundwiller E, et al. Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat 2009;30:E376-E385.
    • (2009) Hum Mutat , vol.30 , pp. E376-E385
    • Goizet, C.1    Boukhris, A.2    Mundwiller, E.3
  • 3
    • 84863778695 scopus 로고    scopus 로고
    • Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2
    • Crimella C, Baschirotto C, Arnoldi A, et al. Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2. Clin Genet 2012;82:157-164.
    • (2012) Clin Genet , vol.82 , pp. 157-164
    • Crimella, C.1    Baschirotto, C.2    Arnoldi, A.3
  • 4
    • 84907602711 scopus 로고    scopus 로고
    • Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy
    • Liu YT, Laurá M, Hersheson J, et al. Extended phenotypic spectrum of KIF5A mutations: from spastic paraplegia to axonal neuropathy. Neurology 2014;83:612-619.
    • (2014) Neurology , vol.83 , pp. 612-619
    • Liu, Y.T.1    Laurá, M.2    Hersheson, J.3
  • 5
    • 84885668385 scopus 로고    scopus 로고
    • Clinical implications of genetic advances in Charcot-Marie-Tooth disease
    • Rossor AM, Polke JM, Houlden H, Reilly MM. Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol 2013;9:562-571.
    • (2013) Nat Rev Neurol , vol.9 , pp. 562-571
    • Rossor, A.M.1    Polke, J.M.2    Houlden, H.3    Reilly, M.M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.