메뉴 건너뛰기




Volumn 66, Issue 1, 1999, Pages 93-96

Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia

Author keywords

Friedreich's ataxia; GAA expansion; Sensory neuropathy

Indexed keywords

TRINUCLEOTIDE;

EID: 0033064265     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.66.1.93     Document Type: Article
Times cited : (61)

References (21)
  • 1
    • 0017056474 scopus 로고
    • Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia
    • Geoffroy G, Barbeau A, Breton G, et al. Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. Can J Neurol Sci 1976;3:279-86.
    • (1976) Can J Neurol Sci , vol.3 , pp. 279-286
    • Geoffroy, G.1    Barbeau, A.2    Breton, G.3
  • 2
    • 0014379575 scopus 로고
    • The peripheral sensory pathway in Friedreich's ataxia
    • Hughes JT, Brownell B, Hewer RL. The peripheral sensory pathway in Friedreich's ataxia. Brain 1968;91:803-18.
    • (1968) Brain , vol.91 , pp. 803-818
    • Hughes, J.T.1    Brownell, B.2    Hewer, R.L.3
  • 3
    • 0015024438 scopus 로고
    • An electrophysiological and pathological study of peripheral nerves in Friedreich's ataxia
    • McLeod JG. An electrophysiological and pathological study of peripheral nerves in Friedreich's ataxia. J Neurol Sci 1971;12:333-49.
    • (1971) J Neurol Sci , vol.12 , pp. 333-349
    • McLeod, J.G.1
  • 4
    • 0020696198 scopus 로고
    • Friedreich's ataxia: Electrophysiological and histological findings
    • Caruso G, Santoro L, Perretti A, et al. Friedreich's ataxia: electrophysiological and histological findings. Acta Neurol Scand 1983;67:26-40.
    • (1983) Acta Neurol Scand , vol.67 , pp. 26-40
    • Caruso, G.1    Santoro, L.2    Perretti, A.3
  • 5
    • 13344270899 scopus 로고    scopus 로고
    • Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    • Campuzano V, Montermini L, Moltò MD, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-7.
    • (1996) Science , vol.271 , pp. 1423-1427
    • Campuzano, V.1    Montermini, L.2    Moltò, M.D.3
  • 6
    • 0028120296 scopus 로고
    • Late onset Friedreich's disease: Clinical features and mapping of mutation to the FRDA locus
    • De Michele G, Filla A, Cavalcanti F, et al. Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus. J Neurol Neurosurg Psychiatry 1994;57: 977-9.
    • (1994) J Neurol Neurosurg Psychiatry , vol.57 , pp. 977-979
    • De Michele, G.1    Filla, A.2    Cavalcanti, F.3
  • 7
    • 0028941326 scopus 로고
    • Early onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q
    • Palau F, De Michele G, Vilchez JJ. et al. Early onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q. Ann Neurol 1995;37:359-62.
    • (1995) Ann Neurol , vol.37 , pp. 359-362
    • Palau, F.1    De Michele, G.2    Vilchez, J.J.3
  • 8
    • 0031467887 scopus 로고    scopus 로고
    • Broadened Friedreich's ataxia phenotype after gene cloning: Minimal GAA expansion causes late onset spastic ataxia
    • Ragno M, De Michele G, Cavalcanti F, et al. Broadened Friedreich's ataxia phenotype after gene cloning: minimal GAA expansion causes late onset spastic ataxia. Neurology 1997;49:1617-20.
    • (1997) Neurology , vol.49 , pp. 1617-1620
    • Ragno, M.1    De Michele, G.2    Cavalcanti, F.3
  • 9
    • 0029757676 scopus 로고    scopus 로고
    • The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia
    • Filla A, De Michele G, Cavalcanti F, et al. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 1996;59: 554-60.
    • (1996) Am J Hum Genet , vol.59 , pp. 554-560
    • Filla, A.1    De Michele, G.2    Cavalcanti, F.3
  • 10
    • 0029821176 scopus 로고    scopus 로고
    • Clinical and genetic abnormalities in patients with Friedreich's ataxia
    • Dürr A, Cossée M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996;335,16:1169-75.
    • (1996) N Engl J Med , vol.335 , Issue.16 , pp. 1169-1175
    • Dürr, A.1    Cossée, M.2    Agid, Y.3
  • 11
    • 17144467700 scopus 로고    scopus 로고
    • Phenotypic variability in Friedreich ataxia: Role of the associated GAA triplet repeat expansion
    • Montermini L, Richter A, Morgan K, et al. Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol 1997;41:675-82.
    • (1997) Ann Neurol , vol.41 , pp. 675-682
    • Montermini, L.1    Richter, A.2    Morgan, K.3
  • 12
    • 0030970883 scopus 로고    scopus 로고
    • Genetic abnormalities in Friedreich's ataxia
    • Filla A, De Michele G, Cocozza S. Genetic abnormalities in Friedreich's ataxia. N Engl J Med 1997;336:1021-2.
    • (1997) N Engl J Med , vol.336 , pp. 1021-1022
    • Filla, A.1    De Michele, G.2    Cocozza, S.3
  • 13
    • 33751370081 scopus 로고
    • Evoked action potentials and conduction velocity in human sensory nerves
    • Buchthal F, Rosenfalck A. Evoked action potentials and conduction velocity in human sensory nerves. Brain Res 1966;3:1-122.
    • (1966) Brain Res , vol.3 , pp. 1-122
    • Buchthal, F.1    Rosenfalck, A.2
  • 14
    • 0015108568 scopus 로고
    • Normal sensory conduction in nerves of the leg in man
    • Behse F, Buchthal F. Normal sensory conduction in nerves of the leg in man. J Neurol Neurosurg Psychiaty 1971;34: 404-14.
    • (1971) J Neurol Neurosurg Psychiaty , vol.34 , pp. 404-414
    • Behse, F.1    Buchthal, F.2
  • 15
    • 0019979781 scopus 로고
    • Friedreich's ataxia: Early detection and progression of peripheral nerve abnormalities
    • Ouvrier RA, McLeod JG, Cochin TE. Friedreich's ataxia: early detection and progression of peripheral nerve abnormalities. J Neurol Sci 1982;55:137-45.
    • (1982) J Neurol Sci , vol.55 , pp. 137-145
    • Ouvrier, R.A.1    McLeod, J.G.2    Cochin, T.E.3
  • 16
    • 0023191261 scopus 로고
    • Friedreich's ataxia: Electrophysiologic and histologic findings in patients and relatives
    • Caruso G, Santoro L, Perretti A, et al. Friedreich's ataxia: electrophysiologic and histologic findings in patients and relatives. Muscle Nerve 1987;10:503-15.
    • (1987) Muscle Nerve , vol.10 , pp. 503-515
    • Caruso, G.1    Santoro, L.2    Perretti, A.3
  • 17
    • 0022483582 scopus 로고
    • Hypotrophic and dying-back nerve fibers in Friedreich's ataxia
    • Said G, Marion MH, Selva J, et al. Hypotrophic and dying-back nerve fibers in Friedreich's ataxia. Neurology 1986;36: 1292-9.
    • (1986) Neurology , vol.36 , pp. 1292-1299
    • Said, G.1    Marion, M.H.2    Selva, J.3
  • 18
    • 0025295881 scopus 로고
    • Electrophysiological and histological follow up study in 15 Friedreich's ataxia patients
    • Santoro L, Perretti A, Crisci C, et al. Electrophysiological and histological follow up study in 15 Friedreich's ataxia patients. Muscle Nerve 1990;13:536-40.
    • (1990) Muscle Nerve , vol.13 , pp. 536-540
    • Santoro, L.1    Perretti, A.2    Crisci, C.3
  • 19
    • 0025073902 scopus 로고
    • Immunohistochemical evidence of the selective involvement of dorsal root fibres in Friedreich's ataxia
    • Goto S, Hirano A. Immunohistochemical evidence of the selective involvement of dorsal root fibres in Friedreich's ataxia. Neuropathol Appl Neurobiol 1990;16:365-70.
    • (1990) Neuropathol Appl Neurobiol , vol.16 , pp. 365-370
    • Goto, S.1    Hirano, A.2
  • 20
    • 0029990713 scopus 로고    scopus 로고
    • Friedreich's ataxia with retained tendon reflexes: Molecular genetics, clinical neurophysiology, and magnetic resonance imaging
    • Klockgether T, Zühlke C, Schulz JB, et al. Friedreich's ataxia with retained tendon reflexes: molecular genetics, clinical neurophysiology, and magnetic resonance imaging. Neurology 1996;46:118-21.
    • (1996) Neurology , vol.46 , pp. 118-121
    • Klockgether, T.1    Zühlke, C.2    Schulz, J.B.3
  • 21
    • 0030854076 scopus 로고    scopus 로고
    • GAA trinucleotide repeat expansion in variant Friedreich's ataxia families
    • Cruz-Martinez A, Anciones B, Palau F. GAA trinucleotide repeat expansion in variant Friedreich's ataxia families. Muscle Nerve 1997;20:1121-6.
    • (1997) Muscle Nerve , vol.20 , pp. 1121-1126
    • Cruz-Martinez, A.1    Anciones, B.2    Palau, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.