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Volumn 27, Issue 4, 2012, Pages 581-583

G303V tau mutation presenting with progressive supranuclear palsy-like features

Author keywords

[No Author keywords available]

Indexed keywords

TAU PROTEIN;

EID: 84859421166     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.24060     Document Type: Letter
Times cited : (13)

References (8)
  • 1
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    • Familial aggregation of parkinsonism in progressive supranuclear palsy
    • Donker Kaat L, Boon AJ, Azmani A, et al. Familial aggregation of parkinsonism in progressive supranuclear palsy. Neurology 2009; 73: 98-105.
    • (2009) Neurology , vol.73 , pp. 98-105
    • Donker Kaat, L.1    Boon, A.J.2    Azmani, A.3
  • 2
    • 25144460507 scopus 로고    scopus 로고
    • A new mutation of the tau gene, G303V, in early onset familial progressive supranuclear palsy
    • Ros R, Thobois S, Streichenberger N, et al. A new mutation of the tau gene, G303V, in early onset familial progressive supranuclear palsy. Arch Neurol 2005; 62: 1444-1450.
    • (2005) Arch Neurol , vol.62 , pp. 1444-1450
    • Ros, R.1    Thobois, S.2    Streichenberger, N.3
  • 3
    • 10744228528 scopus 로고    scopus 로고
    • Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene
    • Rossi G, Gasparoli E, Pasquali C, et al. Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene. Ann Neurol 2004; 55: 448.
    • (2004) Ann Neurol , vol.55 , pp. 448
    • Rossi, G.1    Gasparoli, E.2    Pasquali, C.3
  • 4
    • 0034093228 scopus 로고    scopus 로고
    • Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations
    • Stanford PM, Halliday GM, Brooks WS, et al. Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations. Brain 2000; 123: 880-893.
    • (2000) Brain , vol.123 , pp. 880-893
    • Stanford, P.M.1    Halliday, G.M.2    Brooks, W.S.3
  • 5
    • 79953301545 scopus 로고    scopus 로고
    • Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome
    • Rohrer JD, Paviour D, Vandrovcova J, Hodges J, de Silva R, Rossor MN. Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome. Neurodegener Dis 2011; 8: 149-152.
    • (2011) Neurodegener Dis , vol.8 , pp. 149-152
    • Rohrer, J.D.1    Paviour, D.2    Vandrovcova, J.3    Hodges, J.4    de Silva, R.5    Rossor, M.N.6
  • 6
    • 60249088182 scopus 로고    scopus 로고
    • Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges
    • Williams DR, Lees AJ. Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges. Lancet Neurol 2009; 8: 270-279.
    • (2009) Lancet Neurol , vol.8 , pp. 270-279
    • Williams, D.R.1    Lees, A.J.2
  • 7
    • 20944444262 scopus 로고    scopus 로고
    • Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31.1
    • Ros R, Gomez GP, Hirano M, et al. Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31.1. Ann Neurol 2005; 57: 634-641.
    • (2005) Ann Neurol , vol.57 , pp. 634-641
    • Ros, R.1    Gomez, G.P.2    Hirano, M.3
  • 8
    • 79959689333 scopus 로고    scopus 로고
    • Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
    • Höglinger GU, Melhem NM, Dickson DW, et al. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet 2011; 43: 699-705.
    • (2011) Nat Genet , vol.43 , pp. 699-705
    • Höglinger, G.U.1    Melhem, N.M.2    Dickson, D.W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.