메뉴 건너뛰기




Volumn 71, Issue 3, 2014, Pages 350-354

Pharmacologic treatment of downstream of tyrosine kinase 7 congenital myasthenic syndrome

Author keywords

[No Author keywords available]

Indexed keywords

3,4 DIAMINOPYRIDINE; CHOLINESTERASE INHIBITOR; EPHEDRINE; SALBUTAMOL;

EID: 84896768274     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.5590     Document Type: Review
Times cited : (27)

References (22)
  • 1
    • 84856343171 scopus 로고    scopus 로고
    • Current status of the congenital myasthenic syndromes
    • Engel AG. Current status of the congenital myasthenic syndromes. Neuromuscul Disord. 2012; 22(2): 99-111.
    • (2012) Neuromuscul Disord , vol.22 , Issue.2 , pp. 99-111
    • Engel, A.G.1
  • 2
    • 33749068357 scopus 로고    scopus 로고
    • Dok-7 mutations underlie a neuromuscular junction synaptopathy
    • Beeson D, Higuchi O, Palace J, et al. Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science. 2006; 313(5795): 1975-1978.
    • (2006) Science , vol.313 , Issue.5795 , pp. 1975-1978
    • Beeson, D.1    Higuchi, O.2    Palace, J.3
  • 3
    • 33745495950 scopus 로고    scopus 로고
    • The muscle protein dok-7 is essential for neuromuscular synaptogenesis
    • Okada K, Inoue A, Okada M, et al. The muscle protein Dok-7 is essential for neuromuscular synaptogenesis. Science. 2006; 312(5781): 1802-1805.
    • (2006) Science , vol.312 , Issue.5781 , pp. 1802-1805
    • Okada, K.1    Inoue, A.2    Okada, M.3
  • 4
    • 66149137260 scopus 로고    scopus 로고
    • Dok-7 activates the muscle receptor kinase MuSK and shapes synapse formation
    • doi:10.1126/scisignal.2000113
    • Inoue A, Setoguchi K, Matsubara Y, et al. Dok-7 activates the muscle receptor kinase MuSK and shapes synapse formation. Sci Signal. 2009; 2(59): ra7. doi:10.1126/scisignal.2000113.
    • (2009) Sci Signal , vol.2 , Issue.59
    • Inoue, A.1    Setoguchi, K.2    Matsubara, Y.3
  • 5
    • 78049434338 scopus 로고    scopus 로고
    • Dok-7 regulates neuromuscular synapse formation by recruiting crk and crk-L
    • Hallock PT, Xu CF, Park TJ, Neubert TA, Curran T, Burden SJ. Dok-7 regulates neuromuscular synapse formation by recruiting Crk and Crk-L. Genes Dev. 2010; 24(21): 2451-2461.
    • (2010) Genes Dev. , vol.24 , Issue.21 , pp. 2451-2461
    • Hallock, P.T.1    Xu, C.F.2    Park, T.J.3    Neubert, T.A.4    Curran, T.5    Burden, S.J.6
  • 6
    • 84865067553 scopus 로고    scopus 로고
    • The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome
    • Cossins J, Liu WW, Belaya K, et al. The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome. Hum Mol Genet. 2012; 21(17): 3765-3775.
    • (2012) Hum Mol Genet. , vol.21 , Issue.17 , pp. 3765-3775
    • Cossins, J.1    Liu, W.W.2    Belaya, K.3
  • 7
    • 34250880117 scopus 로고    scopus 로고
    • Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes
    • Müller JS, Herczegfalvi A, Vilchez JJ, et al. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain. 2007; 130(pt 6): 1497-1506.
    • (2007) Brain , vol.130 , Issue.PART 6 , pp. 1497-1506
    • Müller, J.S.1    Herczegfalvi, A.2    Vilchez, J.J.3
  • 8
    • 34250881487 scopus 로고    scopus 로고
    • Clinical features of the DOK7 neuromuscular junction synaptopathy
    • Palace J, Lashley D, Newsom-Davis J, et al. Clinical features of the DOK7 neuromuscular junction synaptopathy. Brain. 2007; 130(pt 6): 1507-1515.
    • (2007) Brain , vol.130 , Issue.PART 6 , pp. 1507-1515
    • Palace, J.1    Lashley, D.2    Newsom-Davis, J.3
  • 9
    • 42049097879 scopus 로고    scopus 로고
    • Role of β-adrenoceptor signaling in skeletal muscle: Implications for muscle wasting and disease
    • Lynch GS, Ryall JG. Role of β-adrenoceptor signaling in skeletal muscle: implications for muscle wasting and disease. Physiol Rev. 2008; 88(2): 729-767.
    • (2008) Physiol Rev. , vol.88 , Issue.2 , pp. 729-767
    • Lynch, G.S.1    Ryall, J.G.2
  • 10
    • 77954460190 scopus 로고    scopus 로고
    • Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7
    • Ben Ammar A, Petit F, Alexandri N, et al. Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. J Neurol. 2010; 257(5): 754-766.
    • (2010) J Neurol. , vol.257 , Issue.5 , pp. 754-766
    • Ben Ammar, A.1    Petit, F.2    Alexandri, N.3
  • 11
    • 77952144985 scopus 로고    scopus 로고
    • Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7
    • Lashley D, Palace J, Jayawant S, Robb S, Beeson D. Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7. Neurology. 2010; 74(19): 1517-1523.
    • (2010) Neurology , vol.74 , Issue.19 , pp. 1517-1523
    • Lashley, D.1    Palace, J.2    Jayawant, S.3    Robb, S.4    Beeson, D.5
  • 12
    • 80054848752 scopus 로고    scopus 로고
    • Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and dok-7 myasthenia
    • Liewluck T, Selcen D, Engel AG. Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia. Muscle Nerve. 2011; 44(5): 789-794.
    • (2011) Muscle Nerve , vol.44 , Issue.5 , pp. 789-794
    • Liewluck, T.1    Selcen, D.2    Engel, A.G.3
  • 13
    • 70449526159 scopus 로고    scopus 로고
    • Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations
    • Schara U, Barisic N, Deschauer M, et al. Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations. Neuromuscul Disord. 2009; 19(12): 828-832.
    • (2009) Neuromuscul Disord , vol.19 , Issue.12 , pp. 828-832
    • Schara, U.1    Barisic, N.2    Deschauer, M.3
  • 14
    • 77956621589 scopus 로고    scopus 로고
    • Molecular characterisation of congenital myasthenic syndromes in Southern Brazil
    • Mihaylova V, Scola RH, Gervini B, et al. Molecular characterisation of congenital myasthenic syndromes in Southern Brazil. J Neurol Neurosurg Psychiatry. 2010; 81(9): 973-977.
    • (2010) J Neurol Neurosurg Psychiatry , vol.81 , Issue.9 , pp. 973-977
    • Mihaylova, V.1    Scola, R.H.2    Gervini, B.3
  • 15
    • 84882453352 scopus 로고    scopus 로고
    • Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation
    • Lorenzoni PJ, Scola RH, Kay CS, et al. Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation. J Neurol Sci. 2013; 331(1-2): 155-157.
    • (2013) J Neurol Sci. , vol.331 , Issue.1-2 , pp. 155-157
    • Lorenzoni, P.J.1    Scola, R.H.2    Kay, C.S.3
  • 16
    • 48949098296 scopus 로고    scopus 로고
    • Dok-7 myasthenia: Phenotypic and molecular genetic studies in 16 patients
    • Selcen D, Milone M, Shen XM, et al. Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. Ann Neurol. 2008; 64(1): 71-87.
    • (2008) Ann Neurol. , vol.64 , Issue.1 , pp. 71-87
    • Selcen, D.1    Milone, M.2    Shen, X.M.3
  • 17
    • 51649123667 scopus 로고    scopus 로고
    • Congenital myasthenic syndromes in childhood: Diagnostic and management challenges
    • Kinali M, Beeson D, Pitt MC, et al. Congenital myasthenic syndromes in childhood: diagnostic and management challenges. J Neuroimmunol. 2008; 201-202: 6-12.
    • (2008) J Neuroimmunol. , vol.201-202 , pp. 6-12
    • Kinali, M.1    Beeson, D.2    Pitt, M.C.3
  • 18
    • 77954033585 scopus 로고    scopus 로고
    • DOK7 mutations presenting as a proximal myopathy in french canadians
    • Srour M, Bolduc V, Guergueltcheva V, et al. DOK7 mutations presenting as a proximal myopathy in French Canadians. Neuromuscul Disord. 2010; 20(7): 453-457.
    • (2010) Neuromuscul Disord , vol.20 , Issue.7 , pp. 453-457
    • Srour, M.1    Bolduc, V.2    Guergueltcheva, V.3
  • 19
    • 41849126760 scopus 로고    scopus 로고
    • Variable phenotypes associated with mutations in DOK7
    • Anderson JA, Ng JJ, Bowe C, et al. Variable phenotypes associated with mutations in DOK7. Muscle Nerve. 2008; 37(4): 448-456.
    • (2008) Muscle Nerve , vol.37 , Issue.4 , pp. 448-456
    • Anderson, J.A.1    Ng, J.J.2    Bowe, C.3
  • 20
    • 84873190669 scopus 로고    scopus 로고
    • Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations
    • Burke G, Hiscock A, Klein A, et al. Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations. Neuromuscul Disord. 2013; 23(2): 170-175.
    • (2013) Neuromuscul Disord , vol.23 , Issue.2 , pp. 170-175
    • Burke, G.1    Hiscock, A.2    Klein, A.3
  • 21
    • 84872378122 scopus 로고    scopus 로고
    • DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy
    • Mahjneh I, Lochmüller H, Muntoni F, Abicht A. DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy. Neuromuscul Disord. 2013; 23(1): 36-42.
    • (2013) Neuromuscul Disord , vol.23 , Issue.1 , pp. 36-42
    • Mahjneh, I.1    Lochmüller, H.2    Muntoni, F.3    Abicht, A.4
  • 22
    • 84884985806 scopus 로고    scopus 로고
    • DOK7 congenital myasthenic syndrome in childhood: Early diagnostic clues in 23 children
    • Klein A, Pitt MC, McHugh JC, et al. DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children. Neuromuscul Disord. 2013; 23(11): 883-891.
    • (2013) Neuromuscul Disord , vol.23 , Issue.11 , pp. 883-891
    • Klein, A.1    Pitt, M.C.2    McHugh, J.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.