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Volumn 57, Issue 6, 2001, Pages 1043-1049

Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; ATAXIA; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; BRAIN DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; FINLAND; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; MALE; NERVE DEGENERATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SEQUENCE ANALYSIS; THALAMUS;

EID: 0035949746     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.57.6.1043     Document Type: Article
Times cited : (35)

References (40)
  • 12
    • 0030473252 scopus 로고    scopus 로고
    • Chromosome-specific panels of tri- and tetranucleotide microsatellite markers for multiplex fluorescent detection of automated genotyping: Evaluation of their utility in pathology and forensics
    • (1996) Genome Res , vol.6 , pp. 1170-1176
    • Lindqvist A.-K.B1    Magnusson, P.K.E.2    Balciuniene, J.3
  • 16
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA 6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3
  • 25
    • 0029931026 scopus 로고    scopus 로고
    • Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy: Do the genes explain the diseases?
    • (1996) Trends Genet , vol.12 , pp. 187-192
    • Chu, G.1    Mayne, L.2
  • 26
    • 0003549860 scopus 로고
    • Disorders of glycoprotein degradation: Sialidosis, fucosidosis, alpha-mannosidosis, beta-mannosidosis, and aspartyl-glycosaminuria
    • Rosenberg RN, Prusiner SB, Di-Mauro S, Barchi R, eds. The molecular and genetic basic of neurological disease. Boston: Butterworth-Heineman
    • (1995) , pp. 335-369
    • Johnson, W.G.1
  • 27
    • 0028957164 scopus 로고
    • Age-related reference values for urinary excretion of sialic acid and deoxysialic acid: Application to diagnosis of storage disorders of free sialic acid
    • (1995) Clin Chem , vol.41 , pp. 544-547
    • Romppanen, J.1    Mononen, I.2
  • 28
    • 0030860131 scopus 로고    scopus 로고
    • Adrenoleukodystrophy: Phenotype, genetics, pathogenesis and therapy
    • (1997) Brain , vol.120 , pp. 1485-1508
    • Moser, H.W.1
  • 38
    • 0031456508 scopus 로고    scopus 로고
    • Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy: Influence of CAG repeat size on MRI findings
    • (1997) Neurology , vol.49 , pp. 1605-1612
    • Koide, R.1    Onodera, O.2    Ikeuchi, T.3
  • 39
    • 15144353774 scopus 로고    scopus 로고
    • Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, γ-globulin, and α-fetoprotein
    • (1998) Ann Neurol , vol.44 , pp. 265-269
    • Watanabe, M.1    Sugai, Y.2    Concannon, P.3
  • 40
    • 4244205994 scopus 로고    scopus 로고
    • A reappraisal of the clinical features of Friedreich ataxia: What indications for a molecular test?
    • Abstract
    • (1999) Neurology , vol.52 , Issue.SUPPL. 2
    • Pandolfo, M.1


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