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Volumn 136, Issue 3, 2013, Pages 692-693

Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCHOLINE; ACETYLCHOLINESTERASE;

EID: 84874844265     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awt042     Document Type: Note
Times cited : (9)

References (11)
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    • Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients
    • Abicht A, Dusl M, Gallenmüller C, Guergueltcheva V, Schara U, Della Marina A, et al. Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients. Hum Mutat 2012; 33: 1474-84.
    • (2012) Hum Mutat , vol.33 , pp. 1474-1484
    • Abicht, A.1    Dusl, M.2    Gallenmüller, C.3    Guergueltcheva, V.4    Schara, U.5    Della Marina, A.6
  • 2
    • 84942822930 scopus 로고    scopus 로고
    • Congenital myasthenic syndromes
    • Beeson D. congenital myasthenic syndromes. ACNR Rev 2012; 11: 10-14.
    • (2012) ACNR Rev , vol.11 , pp. 10-14
    • Beeson, D.1
  • 3
    • 84863985182 scopus 로고    scopus 로고
    • Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates
    • Belaya K, Finlayson S, Slater C, Cossins J, Liu WW, Maxwell S, et al. Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. Am J Hum Genet 2012; 91: 193-201.
    • (2012) Am J Hum Genet , vol.91 , pp. 193-201
    • Belaya, K.1    Finlayson, S.2    Slater, C.3    Cossins, J.4    Liu, W.W.5    Maxwell, S.6
  • 4
    • 84860580291 scopus 로고    scopus 로고
    • 186th ENMC International Workshop: Congenital myasthenic syndromes
    • 24-26 June 2011, Naarden, The Netherlands
    • Chaouch A, Beeson D, Hantai D, Lochmuller H. 186th ENMC International Workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands. Neuromuscul Disord 2012; 22: 566-76.
    • (2012) Neuromuscul Disord , vol.22 , pp. 566-576
    • Chaouch, A.1    Beeson, D.2    Hantai, D.3    Lochmuller, H.4
  • 5
  • 6
    • 84856343171 scopus 로고    scopus 로고
    • Current status of the congenital myasthenic syndromes
    • Engel AG. Current status of the congenital myasthenic syndromes. Neuromuscular Disord 2012; 22: 99-111.
    • (2012) Neuromuscular Disord , vol.22 , pp. 99-111
    • Engel, A.G.1
  • 7
    • 79958165964 scopus 로고    scopus 로고
    • The expanding horizons of asparagine-linked glycosylation
    • Larkin A, Imperiali B. The expanding horizons of asparagine-linked glycosylation. Biochemistry 2011; 50: 4411-26.
    • (2011) Biochemistry , vol.50 , pp. 4411-4426
    • Larkin, A.1    Imperiali, B.2
  • 10
    • 0037590885 scopus 로고    scopus 로고
    • A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis
    • Thiel C, Schwarz M, Peng J, Grzmil M, Hasilik M, Braulke T, et al. A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis. J Biol Chem 2003; 278: 22498-505.
    • (2003) J Biol Chem , vol.278 , pp. 22498-22505
    • Thiel, C.1    Schwarz, M.2    Peng, J.3    Grzmil, M.4    Hasilik, M.5    Braulke, T.6
  • 11
    • 84858701456 scopus 로고    scopus 로고
    • Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): Extending the clinical and molecular spectrum of a rare disease
    • Wurde AE, Reunert J, Rust S, Hertzberg C, Haverkamper S, Nurnberg G, et al. Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): Extending the clinical and molecular spectrum of a rare disease. Mol Genet Metab 2012; 105: 634-41.
    • (2012) Mol Genet Metab , vol.105 , pp. 634-641
    • Wurde, A.E.1    Reunert, J.2    Rust, S.3    Hertzberg, C.4    Haverkamper, S.5    Nurnberg, G.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.