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Volumn 13, Issue 5, 2000, Pages 565-568

Autosomal recessive hereditary motor and sensory neuropathy

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CONGENITAL CATARACT; DEMYELINATING NEUROPATHY; FACE DYSMORPHIA; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MOLECULAR GENETICS;

EID: 0033786251     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-200010000-00010     Document Type: Article
Times cited : (23)

References (32)
  • 2
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    • (1968) Ann Neurol , vol.18 , pp. 603-618
    • Dyck, P.J.1    Lambert, E.H.2
  • 5
    • 0030900182 scopus 로고    scopus 로고
    • A clinical electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease
    • (1997) Neurology , vol.48 , pp. 867-873
    • Kessali, M.1    Zemmouri, R.2    Guilbot, A.3
  • 9
    • 9344241377 scopus 로고    scopus 로고
    • Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths. Clinical electrophysiologic, and genetic aspects of a large family
    • (1996) Neurology , vol.46 , pp. 1318-1324
    • Quattrone, A.1    Gambarella, A.2    Bono, F.3
  • 11
    • 0030015647 scopus 로고    scopus 로고
    • Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing
    • (1996) Hum Mol Genet , vol.5 , pp. 1051-1054
    • Bolino, B.1    Brancolini, V.2    Bono, F.3
  • 19
    • 0031882018 scopus 로고    scopus 로고
    • Hereditary motor and sensory neuropathy-Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings
    • (1996) Brain , vol.121 , pp. 399-408
    • Kalaydjieva, L.1    Nikolova, A.2    Turnev, I.3
  • 21
    • 0033015804 scopus 로고    scopus 로고
    • Congenital cataract facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan gypsies: Clinical and electrophysiological observations
    • (1999) Ann Neurol , vol.45 , pp. 742-750
    • Tournev, I.1    Kalaydjieva, L.2    Youl, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.