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Volumn 61, Issue 2, 2003, Pages 235-238

A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONSANGUINITY; GENE; GENE LOCUS; GENE SPG5A; GENETIC ANALYSIS; GENETIC LINKAGE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; MARKER GENE; MUSCLE BIOPSY; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL;

EID: 0038119314     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000069920.42968.8D     Document Type: Article
Times cited : (33)

References (10)
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  • 2
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  • 3
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    • Mutations in a novel GTPase cause autosomal dominant hereditary spastic paraplegia
    • Zhao X, Alvarado D, Rainier S, et al. Mutations in a novel GTPase cause autosomal dominant hereditary spastic paraplegia. Nat Genet 2001;29:326-331.
    • (2001) Nat Genet , vol.29 , pp. 326-331
    • Zhao, X.1    Alvarado, D.2    Rainier, S.3
  • 4
    • 0036241765 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60
    • Hansen JJ, Durr A, Cournu-Rebeix I, et al. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am J Hum Genet 2002;70:1328-1332.
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  • 5
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    • A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)
    • Reid E, Kloos M, Ashley-Koch A, et al. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet 2002;71:1189-1194.
    • (2002) Am J Hum Genet , vol.71 , pp. 1189-1194
    • Reid, E.1    Kloos, M.2    Ashley-Koch, A.3
  • 6
    • 0032511186 scopus 로고    scopus 로고
    • Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
    • Casari G, De Fusco M, Ciarmatori S, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998;93:973-983.
    • (1998) Cell , vol.93 , pp. 973-983
    • Casari, G.1    De Fusco, M.2    Ciarmatori, S.3
  • 7
    • 0036699065 scopus 로고    scopus 로고
    • SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia
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  • 9
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.