메뉴 건너뛰기




Volumn 1132, Issue , 2008, Pages 99-103

Congenital myasthenic syndromes and the formation of the neuromuscular junction

Author keywords

Congenital myasthenic syndrome; Dok 7; Muscle specific tyrosine kinase; Neuromuscular junction; Rapsyn

Indexed keywords

CHOLINERGIC RECEPTOR; DOK 7 PROTEIN; MUSCLE SPECIFIC TYROSINE KINASE; NERVE PROTEIN; PROTEIN; PROTEIN TYROSINE KINASE; RAPSYN;

EID: 45249085054     PISSN: 00778923     EISSN: 17496632     Source Type: Book Series    
DOI: 10.1196/annals.1405.049     Document Type: Conference Paper
Times cited : (31)

References (21)
  • 1
    • 18744401389 scopus 로고    scopus 로고
    • Current understanding of congenital myasthenic syndromes
    • & review
    • Engel, A.G. & S.M. Sine. 2005. Current understanding of congenital myasthenic syndromes review Curr. Opin. Pharmacol. 5 : 308 321.
    • (2005) Curr. Opin. Pharmacol. , vol.5 , pp. 308-321
    • Engel, A.G.1    Sine, S.M.2
  • 2
    • 21244453035 scopus 로고    scopus 로고
    • 126th International Workshop: Congenital Myasthenic Syndromes, 24-26 September 2004 Naarden, the Netherlands
    • &
    • Beeson, D., D. Hantai, H. Lochmuller & A.G. Engel. 2005. 126th International Workshop: Congenital Myasthenic Syndromes, 24-26 September 2004 Naarden, the Netherlands. Neuromuscul. Disord. 15 : 498 512.
    • (2005) Neuromuscul. Disord. , vol.15 , pp. 498-512
    • Beeson, D.1    Hantai, D.2    Lochmuller, H.3    Engel, A.G.4
  • 3
    • 33746474596 scopus 로고    scopus 로고
    • Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome
    • Morgan, N.V., L.A. Brueton, P. Cox, et al. 2006. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am. J. Hum. Genet. 79 : 390 395.
    • (2006) Am. J. Hum. Genet. , vol.79 , pp. 390-395
    • Morgan, N.V.1    Brueton, L.A.2    Cox, P.3
  • 4
    • 0035511932 scopus 로고    scopus 로고
    • Induction, assembly, maturation and maintenance of a postsynaptic apparatus
    • &
    • Sanes J.R. & J.W. Lichtman. 2001. Induction, assembly, maturation and maintenance of a postsynaptic apparatus. Nat. Rev. Neurosci. 2 : 791 805.
    • (2001) Nat. Rev. Neurosci. , vol.2 , pp. 791-805
    • Sanes, J.R.1    Lichtman, J.W.2
  • 5
    • 1842613541 scopus 로고    scopus 로고
    • Nerve-independent formation of a topologically complex postsynaptic apparatus
    • &
    • Kummer T.T., T. Misgeld, J.W. Lichtman & J.R. Sanes. 2004. Nerve-independent formation of a topologically complex postsynaptic apparatus. J. Cell Biol. 164 : 1077 1087.
    • (2004) J. Cell Biol. , vol.164 , pp. 1077-1087
    • Kummer, T.T.1    Misgeld, T.2    Lichtman, J.W.3    Sanes, J.R.4
  • 6
    • 33745495950 scopus 로고    scopus 로고
    • The muscle protein Dok-7 is essential for neuromuscular synaptogenesis
    • Okada, K., A. Inoue, M. Okada, et al. 2006. The muscle protein Dok-7 is essential for neuromuscular synaptogenesis. Science 312 : 1802 1805.
    • (2006) Science , vol.312 , pp. 1802-1805
    • Okada, K.1    Inoue, A.2    Okada, M.3
  • 7
    • 0036206747 scopus 로고    scopus 로고
    • Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome
    • Ohno, K., A.G. Engel, X.M. Shen, et al. 2002. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am. J. Hum. Genet. 70 : 875 885.
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 875-885
    • Ohno, K.1    Engel, A.G.2    Shen, X.M.3
  • 8
    • 2442533155 scopus 로고    scopus 로고
    • Distinct phenotypes of congenital acetylcholine receptor deficiency
    • Burke, G., J. Cossins, S. Maxwell, et al. 2004. Distinct phenotypes of congenital acetylcholine receptor deficiency. Neuromuscular Disord. 14 : 356 364.
    • (2004) Neuromuscular Disord. , vol.14 , pp. 356-364
    • Burke, G.1    Cossins, J.2    Maxwell, S.3
  • 9
    • 33749488034 scopus 로고    scopus 로고
    • Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations
    • Cossins, J., G. Burke, S. Maxwell, et al. 2006. Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations. Brain 129 : 2773 2783.
    • (2006) Brain , vol.129 , pp. 2773-2783
    • Cossins, J.1    Burke, G.2    Maxwell, S.3
  • 10
    • 33749862204 scopus 로고    scopus 로고
    • Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations
    • Müller, J.S., S.K. Baumeister, V.M. Rasic, et al. 2006. Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. Neurology 67 : 1159 1164.
    • (2006) Neurology , vol.67 , pp. 1159-1164
    • Müller, J.S.1    Baumeister, S.K.2    Rasic, V.M.3
  • 11
    • 0035831437 scopus 로고    scopus 로고
    • Role of rapsyn tetratricopeptide repeat and coiled-coil domains in self-association and nicotinic acetylcholine receptor clustering
    • &
    • Ramarao, M.K., M.J. Bianchetta, J. Lanken & J.B. Cohen. 2001. Role of rapsyn tetratricopeptide repeat and coiled-coil domains in self-association and nicotinic acetylcholine receptor clustering. J. Biol. Chem. 276 : 7475 7483.
    • (2001) J. Biol. Chem. , vol.276 , pp. 7475-7483
    • Ramarao, M.K.1    Bianchetta, M.J.2    Lanken, J.3    Cohen, J.B.4
  • 12
    • 0031866190 scopus 로고    scopus 로고
    • The zinc finger domain of the 43-kDa receptor-associated protein rapsyn: Role in acetylcholine receptor clustering
    • &
    • Bezakova, G. & R.J. Bloch. 1998. The zinc finger domain of the 43-kDa receptor-associated protein rapsyn: role in acetylcholine receptor clustering. Mol. Cell Neurosci. 11 : 274 288.
    • (1998) Mol. Cell Neurosci. , vol.11 , pp. 274-288
    • Bezakova, G.1    Bloch, R.J.2
  • 13
    • 13844307115 scopus 로고    scopus 로고
    • Deletion of N-terminal rapsyn domains disrupts clustering and has dominant negative effects on clustering of full-length rapsyn
    • &
    • Eckler, S.A., R. Kuehn & M. Gautam. 2005. Deletion of N-terminal rapsyn domains disrupts clustering and has dominant negative effects on clustering of full-length rapsyn. Neuroscience 131 : 661 670.
    • (2005) Neuroscience , vol.131 , pp. 661-670
    • Eckler, S.A.1    Kuehn, R.2    Gautam, M.3
  • 14
    • 33747883025 scopus 로고    scopus 로고
    • Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia.'
    • Slater, C.R., P.R. Fawcett, T.J. Walls, et al. 2006. Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia.' Brain 129 : 2061 2076.
    • (2006) Brain , vol.129 , pp. 2061-2076
    • Slater, C.R.1    Fawcett, P.R.2    Walls, T.J.3
  • 15
    • 33749068357 scopus 로고    scopus 로고
    • Dok-7 mutations underlie a neuromuscular junction synaptopathy
    • Beeson, D., O. Higuchi, J. Palace, et al. 2006. Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science 313 : 1975 1978.
    • (2006) Science , vol.313 , pp. 1975-1978
    • Beeson, D.1    Higuchi, O.2    Palace, J.3
  • 16
    • 34250881487 scopus 로고    scopus 로고
    • Clinical features of the DOK7 neuromuscular junction synaptopathy
    • Palace, J., D. Lashley, J. Newsom-Davis, et al. 2007. Clinical features of the DOK7 neuromuscular junction synaptopathy. Brain 130 : 1507 1515.
    • (2007) Brain , vol.130 , pp. 1507-1515
    • Palace, J.1    Lashley, D.2    Newsom-Davis, J.3
  • 17
    • 34250880117 scopus 로고    scopus 로고
    • Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes
    • Muller, J., A. Herczegfalvi, J. Vilchez, et al. 2007. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain 130 : 1497 1506.
    • (2007) Brain , vol.130 , pp. 1497-1506
    • Muller, J.1    Herczegfalvi, A.2    Vilchez, J.3
  • 18
    • 0013887972 scopus 로고
    • Familial limb-girdle myasthenia
    • McQuillen, M.P. 1966. Familial limb-girdle myasthenia. Brain 89 : 121 132.
    • (1966) Brain , vol.89 , pp. 121-132
    • McQuillen, M.P.1
  • 19
    • 0018074575 scopus 로고
    • Familial neuromuscular disease with type 1 fiber hypoplasia, tubular aggregates, cardiomyopathy, and myasthenic features
    • &
    • Dobkin, B.H. & M.A. Verity. 1978. Familial neuromuscular disease with type 1 fiber hypoplasia, tubular aggregates, cardiomyopathy, and myasthenic features. Neurology 28 : 1135 1140.
    • (1978) Neurology , vol.28 , pp. 1135-1140
    • Dobkin, B.H.1    Verity, M.A.2
  • 20
    • 0030978563 scopus 로고    scopus 로고
    • Familial limb-girdle myasthenia with tubular aggregates
    • Furui, E., K. Fukushima, T. Sakashita, et al. 1997. Familial limb-girdle myasthenia with tubular aggregates. Muscle Nerve 20 : 599 603.
    • (1997) Muscle Nerve , vol.20 , pp. 599-603
    • Furui, E.1    Fukushima, K.2    Sakashita, T.3
  • 21


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.