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Volumn 227, Issue 1, 2004, Pages 35-38

Hereditary sensory neuropathy type 1 in a Portuguese family - Electrodiagnostic and autonomic nervous system studies

Author keywords

Dysautonomia; Electromyography; Hereditary sensory neuropathy; Portuguese family; Skin changes

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTONOMIC NERVOUS SYSTEM FUNCTION; CARDIOVASCULAR FUNCTION; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; ELECTRODIAGNOSIS; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1; HUMAN; MALE; MISSENSE MUTATION; MOTOR DYSFUNCTION; NERVE FIBER; NEUROPATHY; PORTUGAL; PRIORITY JOURNAL;

EID: 8544239344     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2004.08.002     Document Type: Article
Times cited : (10)

References (11)
  • 4
    • 0035093829 scopus 로고    scopus 로고
    • Mutations in SPTLC1, encoding serine palmitoyltransferase long chain base subunit-1, cause hereditary sensory neuropathy type 1
    • J.L. Dawkins, D.J. Hulme, S.B. Brahmbhatt, M. Auer-Grumbach, and G.A. Nicholson Mutations in SPTLC1, encoding serine palmitoyltransferase long chain base subunit-1, cause hereditary sensory neuropathy type 1 Nat. Genet. 27 2001 309 312
    • (2001) Nat. Genet. , vol.27 , pp. 309-312
    • Dawkins, J.L.1    Hulme, D.J.2    Brahmbhatt, S.B.3    Auer-Grumbach, M.4    Nicholson, G.A.5
  • 5
    • 0033808833 scopus 로고    scopus 로고
    • Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness
    • O. Dubourg, C. Barhoumi, H. Azzedine, N. Birouk, A. Brice, and P. Bouche Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness Muscle Nerve 23 2000 1508 1514
    • (2000) Muscle Nerve , vol.23 , pp. 1508-1514
    • Dubourg, O.1    Barhoumi, C.2    Azzedine, H.3    Birouk, N.4    Brice, A.5    Bouche, P.6
  • 6
    • 0018132828 scopus 로고
    • Cardiovascular reflexes and autonomic neuropathy
    • D.J. Ewing Cardiovascular reflexes and autonomic neuropathy Clin. Sci. Mol. Med. 55 1978 321 327
    • (1978) Clin. Sci. Mol. Med. , vol.55 , pp. 321-327
    • Ewing, D.J.1
  • 7
    • 0021366170 scopus 로고
    • Quantitation of the sweating deficiency in diabetes mellitus
    • W.R. Kennedy, M. Sakuta, D. Sutherland, and F.C. Goetz Quantitation of the sweating deficiency in diabetes mellitus Ann. Neurol. 15 1984 482 488
    • (1984) Ann. Neurol. , vol.15 , pp. 482-488
    • Kennedy, W.R.1    Sakuta, M.2    Sutherland, D.3    Goetz, F.C.4
  • 10
    • 0001195801 scopus 로고
    • Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons
    • P.J. Dyck P.K. Thomas E.H. Lambert R. Bunge Saunders Philadelphia
    • P.J. Dyck Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons P.J. Dyck P.K. Thomas E.H. Lambert R. Bunge Peripheral neuropathy 1984 Saunders Philadelphia 1557 1599
    • (1984) Peripheral Neuropathy , pp. 1557-1599
    • Dyck, P.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.