메뉴 건너뛰기




Volumn 137, Issue 6, 2014, Pages

Reply Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

Author keywords

[No Author keywords available]

Indexed keywords

CONNECTIN; PHOSPHOTRANSFERASE;

EID: 84901458862     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu034     Document Type: Letter
Times cited : (5)

References (13)
  • 1
    • 84892953505 scopus 로고    scopus 로고
    • Recessive TTN truncating mutations define novel forms of core myopathy with heart disease
    • Chauveau C, Bonnemann C, Julien C, Kho AL, Marks H, Talim B, et al. Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. Hum Mol Genet 2013; 23: 980-91.
    • (2013) Hum Mol Genet , vol.23 , pp. 980-991
    • Chauveau, C.1    Bonnemann, C.2    Julien, C.3    Kho, A.L.4    Marks, H.5    Talim, B.6
  • 3
    • 84897827500 scopus 로고    scopus 로고
    • Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain
    • Advance Access published on November 14,2013 doi:10.1093/brain/awt305
    • Hedberg C, Melberg A, Dahlbom K, Oldfors A. Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. Brain 2013. Advance Access published on November 14, 2013, doi:10.1093/brain/ awt305.
    • (2013) Brain
    • Hedberg, C.1    Melberg, A.2    Dahlbom, K.3    Oldfors, A.4
  • 4
    • 84878541658 scopus 로고    scopus 로고
    • Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure
    • Izumi R, Niihori T, Aoki Y, Suzuki N, Kato M, Warita H, et al. Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure. J Hum Genet 2013; 58: 259-66.
    • (2013) J Hum Genet , vol.58 , pp. 259-266
    • Izumi, R.1    Niihori, T.2    Aoki, Y.3    Suzuki, N.4    Kato, M.5    Warita, H.6
  • 5
    • 84901392643 scopus 로고    scopus 로고
    • Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain
    • Advance Access published on February 24, 2014 doi:10.1093/brain/awu033
    • Lange S, Edstrom L, Udd B, Gautel M. Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. Brain 2014. Advance Access published on February 24, 2014, doi:10.1093/brain/ awu033.
    • (2014) Brain
    • Lange, S.1    Edstrom, L.2    Udd, B.3    Gautel, M.4
  • 6
    • 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: 1599-603.
    • (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
  • 7
    • 84861563537 scopus 로고    scopus 로고
    • Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin
    • Ohlsson M, Hedberg C, Bra° dvik B, Lindberg H, Tajsharghi H, Danielsson O, et al. Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. Brain 2012; 135: 1682-94.
    • (2012) Brain , vol.135 , pp. 1682-1694
    • Ohlsson, M.H.1
  • 9
    • 84861557324 scopus 로고    scopus 로고
    • Titin mutation segregates with hereditary myopathy with early respiratory failure
    • Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, Marsh J, et al. Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain 2012; 135: 1695-713.
    • (2012) Brain , vol.135 , pp. 1695-1713
    • Pfeffer, G.1    Elliott, H.R.2    Griffin, H.3    Barresi, R.4    Miller, J.5    Marsh, J.6
  • 11
    • 84897847802 scopus 로고    scopus 로고
    • Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain
    • Advance Access published on November 21, 2013 doi:10.1093/brain/awt306
    • Pfeffer G, Griffin H, Pyle A, Horvath R, Chinnery PF. Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. Brain 2013. Advance Access published on November 21, 2013, doi:10.1093/brain/awt306.
    • (2013) Brain
    • Pfeffer, G.1    Griffin, H.2    Pyle, A.3    Horvath, R.4    Chinnery, P.F.5
  • 12
    • 84875063943 scopus 로고    scopus 로고
    • Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins
    • Toro C, Olive M, Dalakas MC, Sivakumar K, Bilbao JM, Tyndel F, et al. Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins. BMC Neurol 2013; 13: 29.
    • (2013) BMC Neurol , vol.13 , pp. 29
    • Toro, C.1    Olive, M.2    Dalakas, M.C.3    Sivakumar, K.4    Bilbao, J.M.5    Tyndel, F.6
  • 13
    • 84865861518 scopus 로고    scopus 로고
    • Next generation sequencing for molecular diagnosis of neuromuscular diseases
    • Vasli N, Bohm J, Le Gras S, Muller J, Pizot C, Jost B, et al. Next generation sequencing for molecular diagnosis of neuromuscular diseases. Acta Neuropathol 2012; 124: 273-83.
    • (2012) Acta Neuropathol , vol.124 , pp. 273-283
    • Vasli, N.1    Bohm, J.2    Le Gras, S.3    Muller, J.4    Pizot, C.5    Jost, B.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.