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Volumn 74, Issue 14, 2010, Pages 1152-1154

Pseudodominant inheritance of spastic ataxia of charlevoix-saguenay

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; ATAXIA; CASE REPORT; CHROMOSOME 13Q; COMPARATIVE GENOMIC HYBRIDIZATION; DEGENERATIVE DISEASE; DISEASE SEVERITY; FEMALE; GENE; GENE DELETION; HUMAN; INHERITANCE; MALE; MUSCLE SPASM; PRIORITY JOURNAL; SACS GENE; SPASTIC ATAXIA OF CHARLEVOIX SAGUENAY; VERTICAL TRANSMISSION;

EID: 77950983373     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181d7d8a0     Document Type: Article
Times cited : (10)

References (7)
  • 2
    • 46149122056 scopus 로고    scopus 로고
    • ARSACS in the Dutch population: A frequent cause of early-onset cerebellar ataxia
    • Vermeer S, Meijer RP, Pijl BJ, et al. ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. Neurogenetics 2008;9:207-214.
    • (2008) Neurogenetics , vol.9 , pp. 207-214
    • Vermeer, S.1    Meijer, R.P.2    Pijl, B.J.3
  • 3
    • 64149131950 scopus 로고    scopus 로고
    • An inherited large scale rearrangement in SACS associated with spastic ataxia and hearing loss
    • Terracciano A, Casali C, Grieco GS, et al. An inherited large scale rearrangement in SACS associated with spastic ataxia and hearing loss. Neurogenetics 2009;10:151-155.
    • (2009) Neurogenetics , vol.10 , pp. 151-155
    • Terracciano, A.1    Casali, C.2    Grieco, G.S.3
  • 5
    • 33646080592 scopus 로고    scopus 로고
    • Sacsin-related ataxia (ARSACS): Expanding the genotype upstream from the gigantic exon
    • DOI 10.1212/01.wnl.0000204300.94261.ea, PII 0000611420060411000030
    • Ouyang Y, Takiyama Y, Sakoe K, et al. Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon. Neurology 2006;66:1103-1104. (Pubitemid 44044802)
    • (2006) Neurology , vol.66 , Issue.7 , pp. 1103-1104
    • Ouyang, Y.1    Takiyama, Y.2    Sakoe, K.3    Shimazaki, H.4    Ogawa, T.5    Nagano, S.6    Yamamoto, Y.7    Nakano, I.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.