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Volumn 69, Issue 10, 2012, Pages 1366-1371

Slowly progressive ataxia, neuropathy, and oculomotor dysfunction

Author keywords

[No Author keywords available]

Indexed keywords

ALBUMIN; ALPHA FETOPROTEIN; ALPHA TOCOPHEROL; CHOLESTEROL;

EID: 84867340262     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2012.2356     Document Type: Article
Times cited : (3)

References (20)
  • 2
    • 33846882183 scopus 로고    scopus 로고
    • Clinical features and molecular genetics of autosomal recessive cerebellar ataxias
    • DOI 10.1016/S1474-4422(07)70054-6, PII S1474442207700546
    • Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol. 2007;6(3):245-257. (Pubitemid 46228080)
    • (2007) Lancet Neurology , vol.6 , Issue.3 , pp. 245-257
    • Fogel, B.L.1    Perlman, S.2
  • 3
    • 0029821176 scopus 로고    scopus 로고
    • Clinical and genetic abnormalities in patients with Friedreich's ataxia
    • Dürr A, Cossee M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med. 1996;335(16):1169-1175.
    • (1996) N Engl J Med , vol.335 , Issue.16 , pp. 1169-1175
    • Dürr, A.1    Cossee, M.2    Agid, Y.3
  • 4
    • 0019782799 scopus 로고
    • Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features
    • Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain. 1981;104(3):589-620. (Pubitemid 12202197)
    • (1981) Brain , vol.104 , Issue.3 , pp. 589-620
    • Harding, A.E.1
  • 5
    • 28944450552 scopus 로고    scopus 로고
    • Late-onset Friedreich Ataxia: Phenotypic analysis, magnetic resonance imaging findings, and review of the literature
    • DOI 10.1001/archneur.62.12.1865
    • Bhidayasiri R, Perlman SL, Pulst SM, Geschwind DH. Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature. Arch Neurol. 2005;62(12):1865-1869. (Pubitemid 41785080)
    • (2005) Archives of Neurology , vol.62 , Issue.12 , pp. 1865-1869
    • Bhidayasiri, R.1    Perlman, S.L.2    Pulst, S.-M.3    Geschwind, D.H.4
  • 6
    • 84857132924 scopus 로고    scopus 로고
    • The autosomal recessive cerebellar ataxias
    • Anheim M, Tranchant C, Koenig M. The autosomal recessive cerebellar ataxias. N Engl J Med. 2012;366(7):636-646.
    • (2012) N Engl J Med , vol.366 , Issue.7 , pp. 636-646
    • Anheim, M.1    Tranchant, C.2    Koenig, M.3
  • 7
    • 3242876404 scopus 로고    scopus 로고
    • Ataxia-telangiectasia, an evolving phenotype
    • DOI 10.1016/j.dnarep.2004.04.010, PII S1568786404001417
    • Chun HH, Gatti RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amst). 2004;3(8-9):1187-1196. (Pubitemid 38997962)
    • (2004) DNA Repair , vol.3 , Issue.8-9 , pp. 1187-1196
    • Chun, H.H.1    Gatti, R.A.2
  • 8
    • 26244435498 scopus 로고    scopus 로고
    • Molecular pathology of ataxia telangiectasia
    • DOI 10.1136/jcp.2005.026062
    • Taylor AM, Byrd PJ. Molecular pathology of ataxia telangiectasia. J Clin Pathol. 2005;58(10):1009-1015. (Pubitemid 41416047)
    • (2005) Journal of Clinical Pathology , vol.58 , Issue.10 , pp. 1009-1015
    • Taylor, A.M.R.1    Byrd, P.J.2
  • 9
    • 0028876572 scopus 로고
    • Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein
    • Ouahchi K, Arita M, Kayden H, et al. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet. 1995;9(2):141-145.
    • (1995) Nat Genet , vol.9 , Issue.2 , pp. 141-145
    • Ouahchi, K.1    Arita, M.2    Kayden, H.3
  • 12
    • 84855616355 scopus 로고    scopus 로고
    • Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3
    • Horvath R, Czermin B, Gulati S, et al. Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. J Neurol Neurosurg Psychiatry. 2012;83(2):174-178.
    • (2012) J Neurol Neurosurg Psychiatry , vol.83 , Issue.2 , pp. 174-178
    • Horvath, R.1    Czermin, B.2    Gulati, S.3
  • 15
    • 34548614799 scopus 로고    scopus 로고
    • Defective DNA Repair and Neurodegenerative Disease
    • DOI 10.1016/j.cell.2007.08.043, PII S0092867407011415
    • Rass U, Ahel I, West SC. Defective DNA repair and neurodegenerative disease. Cell. 2007;130(6):991-1004. (Pubitemid 47410275)
    • (2007) Cell , vol.130 , Issue.6 , pp. 991-1004
    • Rass, U.1    Ahel, I.2    West, S.C.3
  • 17
    • 58749113403 scopus 로고    scopus 로고
    • Ataxia with oculomotor apraxia type 2: A clinical and genetic study of 19 patients
    • Tazir M, Ali-Pacha L, M'Zahem A, et al. Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients. J Neurol Sci. 2009;278(1-2):77-81.
    • (2009) J Neurol Sci , vol.278 , Issue.1-2 , pp. 77-81
    • Tazir, M.1    Ali-Pacha, L.2    M'Zahem, A.3
  • 18
    • 0343384355 scopus 로고    scopus 로고
    • ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF
    • Engert JC, Bérubé P,Mercier J, et al. ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet. 2000;24(2):120-125.
    • (2000) Nat Genet , vol.24 , Issue.2 , pp. 120-125
    • Engert, J.C.1    Bérubé, P.2    Mercier, J.3
  • 20
    • 0033792597 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy
    • Zemmouri R, Azzedine H, Assami S, et al. Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy. Neuromuscul Disord. 2000;10(8):592-598.
    • (2000) Neuromuscul Disord , vol.10 , Issue.8 , pp. 592-598
    • Zemmouri, R.1    Azzedine, H.2    Assami, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.