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Volumn 13, Issue 6, 2003, Pages 501-507

109th ENMC International Workshop: 5th Workshop on nemaline myopathy, 11th-13th October 2002, Naarden, The Netherlands

Author keywords

Actin gene; Alpha tropomyosin slow gene; Central core disease; L tyrosine; Nebulin gene; Nemaline myopathy; Sarcomeric protein

Indexed keywords

ALPHA ACTIN; CELL PROTEIN; NEBULIN; TROPOMYOSIN; TYROSINE;

EID: 0042164491     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(03)00007-5     Document Type: Conference Paper
Times cited : (27)

References (11)
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    • Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy
    • Wallgren-Pettersson C., Pelin K., Hilpelä P., Donner K., et al. Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. Neuromuscul Disord. 9:1999;564-572.
    • (1999) Neuromuscul Disord , vol.9 , pp. 564-572
    • Wallgren-Pettersson, C.1    Pelin, K.2    Hilpelä, P.3    Donner, K.4
  • 2
    • 0034213947 scopus 로고    scopus 로고
    • Report of the 70th ENMC International Workshop: Nemaline myopathy
    • Wallgren-Pettersson C., Laing N.G. Report of the 70th ENMC International Workshop: nemaline myopathy. Neuromuscul Disord. 10:2000;299-306.
    • (2000) Neuromuscul Disord , vol.10 , pp. 299-306
    • Wallgren-Pettersson, C.1    Laing, N.G.2
  • 5
    • 0024393561 scopus 로고
    • A new treatment for congenital nonprogressive nemaline myopathy
    • Kalita D. A new treatment for congenital nonprogressive nemaline myopathy. J Orthomol Med. 4:1989;70-74.
    • (1989) J Orthomol Med , vol.4 , pp. 70-74
    • Kalita, D.1
  • 6
    • 0034326318 scopus 로고    scopus 로고
    • An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal ryanodine receptor
    • Monnier N., Romero N.B., Lerale J., Nivoche Y., Qi D., MacLennan D.H., et al. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal ryanodine receptor. Hum Mol Genet. 9:2000;2599-2608.
    • (2000) Hum Mol Genet , vol.9 , pp. 2599-2608
    • Monnier, N.1    Romero, N.B.2    Lerale, J.3    Nivoche, Y.4    Qi, D.5    MacLennan, D.H.6
  • 7
    • 0035888611 scopus 로고    scopus 로고
    • Familial and sporadic forms of central core disease are associated with mutations in C-terminal domain of skeletal muscle ryanodine receptor
    • Monnier N., Romero N.B., Lerale J., Landrieu P., Nivoche Y., Fardeau M., et al. Familial and sporadic forms of central core disease are associated with mutations in C-terminal domain of skeletal muscle ryanodine receptor. Hum Mol Genet. 10:2001;2581-2592.
    • (2001) Hum Mol Genet , vol.10 , pp. 2581-2592
    • Monnier, N.1    Romero, N.B.2    Lerale, J.3    Landrieu, P.4    Nivoche, Y.5    Fardeau, M.6
  • 8
    • 0036260805 scopus 로고    scopus 로고
    • A recessive form of Central Core Disease, transiently presenting as Multi-minicore Disease, is associated with a homozygous mutation in the Ryanodine Receptor Type 1 gene
    • Ferreiro A., Monnier N., Romero N.B., Leroy J.-P., Bonneman C., Haenggeli C.A., et al. A recessive form of Central Core Disease, transiently presenting as Multi-minicore Disease, is associated with a homozygous mutation in the Ryanodine Receptor Type 1 gene. Ann Neurol. 51:2002;750-759.
    • (2002) Ann Neurol , vol.51 , pp. 750-759
    • Ferreiro, A.1    Monnier, N.2    Romero, N.B.3    Leroy, J.-P.4    Bonneman, C.5    Haenggeli, C.A.6
  • 10
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    • A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy
    • Corbett M.A., Robinson C.S., Dunglison G.F., et al. A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy. Hum Mol Genet. 10:2001;317-328.
    • (2001) Hum Mol Genet , vol.10 , pp. 317-328
    • Corbett, M.A.1    Robinson, C.S.2    Dunglison, G.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.