메뉴 건너뛰기




Volumn 133, Issue 7, 2010, Pages 1865-1868

The age of single-gene neurological disorders is not dead

Author keywords

[No Author keywords available]

Indexed keywords

CONNECTIN;

EID: 77954378548     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awq161     Document Type: Note
Times cited : (1)

References (16)
  • 1
    • 0031901171 scopus 로고    scopus 로고
    • Overview of distal myopathies: From the clinical to the molecular
    • Barohn RJ, Amato AA, Griggs RC. Overview of distal myopathies: from the clinical to the molecular. Neuromuscul Disord 1998; 8: 309-316
    • (1998) Neuromuscul Disord , vol.8 , pp. 309-316
    • Barohn, R.J.1    Amato, A.A.2    Griggs, R.C.3
  • 2
    • 17344363640 scopus 로고    scopus 로고
    • A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
    • Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 1998; 20: 37-42.
    • (1998) Nat Genet , vol.20 , pp. 37-42
    • Bashir, R.1    Britton, S.2    Strachan, T.3    Keers, S.4    Vafiadaki, E.5    Lako, M.6
  • 3
    • 23744502938 scopus 로고    scopus 로고
    • Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure
    • Birchall D, von der Hagen M, Bates D, Bushby KM, Chinnery PF. Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure. Neuromuscul Disord 2005; 15: 595-600.
    • (2005) Neuromuscul Disord , vol.15 , pp. 595-600
    • Birchall, D.1    Von Der Hagen, M.2    Bates, D.3    Bushby, K.M.4    Chinnery, P.F.5
  • 4
    • 73149123343 scopus 로고    scopus 로고
    • Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
    • Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci USA 2009; 106: 19096-101.
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 19096-19101
    • Choi, M.1    Scholl, U.I.2    Ji, W.3    Liu, T.4    Tikhonova, I.R.5    Zumbo, P.6
  • 5
    • 77954359968 scopus 로고    scopus 로고
    • Kelch-like homolog 9 mutation is associated with an early onset autosomal dominant distal myopathy
    • Cirak S, von Deimling F, Sachdev S, Errington WJ, Herrmann R, Bö nnemann C, et al. Kelch-like homolog 9 mutation is associated with an early onset autosomal dominant distal myopathy. Brain 2010; 133: 2123-2135
    • (2010) Brain , vol.133 , pp. 2123-2135
    • Cirak, S.1    Von Deimling, F.2    Sachdev, S.3    Errington, W.J.4    Herrmann, R.5    Bönnemann, C.6
  • 7
    • 20044372006 scopus 로고    scopus 로고
    • Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs
    • Fischer D, Walter MC, Kesper K, Petersen JA, Aurino S, Nigro V, et al. Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. J Neurol 2005; 252: 538-547
    • (2005) J Neurol , vol.252 , pp. 538-547
    • Fischer, D.1    Walter, M.C.2    Kesper, K.3    Petersen, J.A.4    Aurino, S.5    Nigro, V.6
  • 8
    • 84965220279 scopus 로고
    • A lecture on myopathy and a distal form
    • Gowers WR. A lecture on myopathy and a distal form. Br Med J 1902; 2: 89-92.
    • (1902) Br Med J , vol.2 , pp. 89-92
    • Gowers, W.R.1
  • 10
    • 20644440418 scopus 로고    scopus 로고
    • The kinase domain of titin controls muscle gene expression and protein turnover
    • Lange S, Xiang F, Yakovenko A, Vihola A, Hackman P, Rostkova E, et al. The kinase domain of titin controls muscle gene expression and protein turnover. Science 2005; 308: 1599-1603
    • (2005) Science , vol.308 , pp. 1599-1603
    • Lange, S.1    Xiang, F.2    Yakovenko, A.3    Vihola, A.4    Hackman, P.5    Rostkova, E.6
  • 11
    • 0034687697 scopus 로고    scopus 로고
    • Autosomal dominant myopathy: Missense mutation (Glu-7064Lys) in the myosin heavy chain IIa gene
    • Martinsson T, Oldfors A, Darin N, Berg K, Tajsharghi H, Kyllerman M, et al. Autosomal dominant myopathy: missense mutation (Glu-7064Lys) in the myosin heavy chain IIa gene. Proc Natl Acad Sci USA 2000; 97: 14614-14619
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 14614-14619
    • Martinsson, T.1    Oldfors, A.2    Darin, N.3    Berg, K.4    Tajsharghi, H.5    Kyllerman, M.6
  • 12
    • 4544374719 scopus 로고    scopus 로고
    • Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1)
    • Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, et al. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1). Am J Hum Genet 2004; 75: 703-708
    • (2004) Am J Hum Genet , vol.75 , pp. 703-708
    • Meredith, C.1    Herrmann, R.2    Parry, C.3    Liyanage, K.4    Dye, D.E.5    Durling, H.J.6
  • 15
    • 77951921511 scopus 로고    scopus 로고
    • Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations
    • Tajsharghi H, Hilton-Jones D, Raheem O, Saukkonen AM, Oldfors A, Udd B. Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations. Brain 2010; 133: 1451-1459
    • Brain , vol.2010 , Issue.133 , pp. 1451-1459
    • Tajsharghi, H.1    Hilton-Jones, D.2    Raheem, O.3    Saukkonen, A.M.4    Oldfors, A.5    Udd, B.6
  • 16
    • 67349219669 scopus 로고    scopus 로고
    • 165th European Neuromuscular Centre (ENMC) International Workshop: Distal myopathies 6-8th February 2009 Naarden, the Netherlands
    • Udd B. 165th European Neuromuscular Centre (ENMC) International Workshop: distal myopathies, 6-8th February 2009 Naarden, The Netherlands. Neuromuscul Disord 2009; 19: 429-438
    • (2009) Neuromuscul Disord , vol.19 , pp. 429-438
    • Udd, B.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.