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Volumn 20, Issue SUPPL.1, 2014, Pages

Update on novel familial forms of Parkinson's disease and multiple system atrophy

Author keywords

Familial; Genetics; MSA; PD; SNCA; VPS35

Indexed keywords

ALPHA SYNUCLEIN;

EID: 84887903040     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/S1353-8020(13)70010-5     Document Type: Article
Times cited : (77)

References (30)
  • 4
    • 84872729641 scopus 로고    scopus 로고
    • Parkinson's disease and parkinsonism: neuropathology
    • Dickson DW Parkinson's disease and parkinsonism: neuropathology. Cold Spring Harb Perspect Med 2012, 2.
    • (2012) Cold Spring Harb Perspect Med , vol.2
    • Dickson, D.W.1
  • 5
    • 84880440278 scopus 로고    scopus 로고
    • Mutations in COQ2 in familial and sporadic multiple-system atrophy
    • Mutations in COQ2 in familial and sporadic multiple-system atrophy. N Engl J Med 2013, 369:233-244.
    • (2013) N Engl J Med , vol.369 , pp. 233-244
  • 6
    • 0030744876 scopus 로고    scopus 로고
    • Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
    • Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 1997, 276:2045-2047.
    • (1997) Science , vol.276 , pp. 2045-2047
    • Polymeropoulos, M.H.1    Lavedan, C.2    Leroy, E.3    Ide, S.E.4    Dehejia, A.5    Dutra, A.6
  • 8
    • 0035932936 scopus 로고    scopus 로고
    • Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers
    • Kruger R, Kuhn W, Leenders KL, Sprengelmeyer R, Muller T, Woitalla D, et al. Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers. Neurology 2001, 56:1355-1362.
    • (2001) Neurology , vol.56 , pp. 1355-1362
    • Kruger, R.1    Kuhn, W.2    Leenders, K.L.3    Sprengelmeyer, R.4    Muller, T.5    Woitalla, D.6
  • 14
    • 84878405578 scopus 로고    scopus 로고
    • G51D alpha-synuclein mutation causes a novel parkinsonian-pyramidal syndrome
    • [Epub ahead of print].
    • Lesage S, Anheim M, Letournel F, Bousset L, Honore A, Rozas N, et al. G51D alpha-synuclein mutation causes a novel parkinsonian-pyramidal syndrome. Ann Neurol 2013 Mar 22, [Epub ahead of print].
    • (2013) Ann Neurol M 22
    • Lesage, S.1    Anheim, M.2    Letournel, F.3    Bousset, L.4    Honore, A.5    Rozas, N.6
  • 15
    • 84885461450 scopus 로고    scopus 로고
    • Alpha-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?
    • Kiely AP, Asi YT, Kara E, Limousin P, Ling H, Lewis P, et al. alpha-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?. Acta Neuropathol 2013, 125:753-769.
    • (2013) Acta Neuropathol , vol.125 , pp. 753-769
    • Kiely, A.P.1    Asi, Y.T.2    Kara, E.3    Limousin, P.4    Ling, H.5    Lewis, P.6
  • 16
    • 15744362063 scopus 로고    scopus 로고
    • Structure and dynamics of micelle-bound human alpha-synuclein
    • Ulmer TS, Bax A, Cole NB, Nussbaum RL Structure and dynamics of micelle-bound human alpha-synuclein. J Biol Chem 2005, 280:9595-9603.
    • (2005) J Biol Chem , vol.280 , pp. 9595-9603
    • Ulmer, T.S.1    Bax, A.2    Cole, N.B.3    Nussbaum, R.L.4
  • 22
    • 67249139655 scopus 로고    scopus 로고
    • SNCA variants are associated with increased risk for multiple system atrophy
    • Scholz SW, Houlden H, Schulte C, Sharma M, Li A, Berg D, et al. SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol 2009, 65:610-614.
    • (2009) Ann Neurol , vol.65 , pp. 610-614
    • Scholz, S.W.1    Houlden, H.2    Schulte, C.3    Sharma, M.4    Li, A.5    Berg, D.6
  • 23
    • 1342347397 scopus 로고    scopus 로고
    • Interleukin-1A (-889) genetic polymorphism increases the risk of multiple system atrophy
    • Combarros O, Infante J, Llorca J, Berciano J Interleukin-1A (-889) genetic polymorphism increases the risk of multiple system atrophy. Mov Disord 2003, 18:1385-1386.
    • (2003) Mov Disord , vol.18 , pp. 1385-1386
    • Combarros, O.1    Infante, J.2    Llorca, J.3    Berciano, J.4
  • 24
    • 10644256410 scopus 로고    scopus 로고
    • Interleukin-8, intercellular adhesion molecule-1 and tumour necrosis factor-alpha gene polymorphisms and the risk for multiple system atrophy
    • Infante J, Llorca J, Berciano J, Combarros O Interleukin-8, intercellular adhesion molecule-1 and tumour necrosis factor-alpha gene polymorphisms and the risk for multiple system atrophy. J Neurol Sci 2005, 228:11-13.
    • (2005) J Neurol Sci , vol.228 , pp. 11-13
    • Infante, J.1    Llorca, J.2    Berciano, J.3    Combarros, O.4
  • 26
    • 79958118184 scopus 로고    scopus 로고
    • Copy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy
    • Sasaki H, Emi M, Iijima H, Ito N, Sato H, Yabe I, et al. Copy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy. Mol Brain 2011, 4:24.
    • (2011) Mol Brain , vol.4 , pp. 24
    • Sasaki, H.1    Emi, M.2    Iijima, H.3    Ito, N.4    Sato, H.5    Yabe, I.6
  • 28
    • 80051534540 scopus 로고    scopus 로고
    • A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease
    • Zimprich A, Benet-Pages A, Struhal W, Graf E, Eck SH, Offman MN, et al. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet 2011, 89:168-175.
    • (2011) Am J Hum Genet , vol.89 , pp. 168-175
    • Zimprich, A.1    Benet-Pages, A.2    Struhal, W.3    Graf, E.4    Eck, S.H.5    Offman, M.N.6
  • 30
    • 84879506736 scopus 로고    scopus 로고
    • Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective
    • Foo JN, Liu J, Tan EK Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective. Hum Genet 2013, 132:721-734.
    • (2013) Hum Genet , vol.132 , pp. 721-734
    • Foo, J.N.1    Liu, J.2    Tan, E.K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.