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Volumn 42, Issue 1, 2005, Pages 80-82

A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; MASPARDIN; MITOCHONDRIAL PROTEIN; PARAPLEGIN; SPARTIN; UNCLASSIFIED DRUG;

EID: 19944434326     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.020172     Document Type: Article
Times cited : (43)

References (16)
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    • Atorino L, Silvestri L, Koppen M, Cassina L, Ballabio A, Marconi R, Langer T, Casari G. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol 2003;163:777-87.
    • (2003) J Cell Biol , vol.163 , pp. 777-787
    • Atorino, L.1    Silvestri, L.2    Koppen, M.3    Cassina, L.4    Ballabio, A.5    Marconi, R.6    Langer, T.7    Casari, G.8
  • 10
    • 0037381932 scopus 로고    scopus 로고
    • The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia
    • Ciccarelli FD, Proukakis C, Patel H, Cross H, Azam S, Patton AM, Bork P, Crosby AH. The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. Genomics 2003;81:437-41.
    • (2003) Genomics , vol.81 , pp. 437-441
    • Ciccarelli, F.D.1    Proukakis, C.2    Patel, H.3    Cross, H.4    Azam, S.5    Patton, A.M.6    Bork, P.7    Crosby, A.H.8
  • 11
    • 0035937780 scopus 로고    scopus 로고
    • Cloning of ACP33 as a novel intracellular ligand of CD4
    • Zeitlmann L, Sirim P, Kremmer E, Kolanus W. Cloning of ACP33 as a novel intracellular ligand of CD4. J Biol Chem 2001;276:9123-32.
    • (2001) J Biol Chem , vol.276 , pp. 9123-9132
    • Zeitlmann, L.1    Sirim, P.2    Kremmer, E.3    Kolanus, W.4
  • 12
    • 0028171583 scopus 로고
    • Toyer syndrome: Report of the first "non-Amish" sibship and review
    • Farag TI, el-Badramany MH, al-Sharkawy S. Toyer syndrome: report of the first "non-Amish" sibship and review. Am J Med Genet 1994;53:383-5.
    • (1994) Am J Med Genet , vol.53 , pp. 383-385
    • Farag, T.I.1    El-Badramany, M.H.2    Al-Sharkawy, S.3
  • 14
    • 0036844683 scopus 로고    scopus 로고
    • Is the transportation highway the right road for hereditary spastic paraplegia?
    • Crosby AH, Proukakis C. Is the transportation highway the right road for hereditary spastic paraplegia? Am J Hum Genet 2002;71:1009-16.
    • (2002) Am J Hum Genet , vol.71 , pp. 1009-1016
    • Crosby, A.H.1    Proukakis, C.2
  • 15
    • 0042512291 scopus 로고    scopus 로고
    • Disruption of cellular transport: A common cause of neurodegeneration?
    • Crosby AH. Disruption of cellular transport: a common cause of neurodegeneration? Lancet Neurol 2003;2:311-31.
    • (2003) Lancet Neurol , vol.2 , pp. 311-331
    • Crosby, A.H.1
  • 16
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    • Science in motion: Common molecular pathological themes emerge in the hereditary spastic paraplegias
    • Reid E. Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias. J Med Genet 2003;40:81-6.
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    • Reid, E.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.