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Volumn 68, Issue 9, 2011, Pages 1171-1179

Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations

Author keywords

[No Author keywords available]

Indexed keywords

RYANODINE RECEPTOR 1;

EID: 80052704544     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2011.188     Document Type: Article
Times cited : (80)

References (28)
  • 1
    • 34249879583 scopus 로고    scopus 로고
    • Central core disease
    • doi:10.1186/1750-1172-2-25
    • Jungbluth H. Central core disease. Orphanet J Rare Dis. 2007;2:25. doi:10.1186/1750-1172-2-25.
    • (2007) Orphanet J Rare Dis , vol.2 , pp. 25
    • Jungbluth, H.1
  • 4
    • 77954130090 scopus 로고    scopus 로고
    • Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion
    • doi:10.1002/humu.21278
    • Clarke NF, Waddell LB, Cooper ST, et al. Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat. 2010;31(7):E1544-E1550. doi:10.1002/humu.21278.
    • (2010) Hum Mutat , vol.31 , Issue.7
    • Clarke, N.F.1    Waddell, L.B.2    Cooper, S.T.3
  • 5
    • 78249290502 scopus 로고    scopus 로고
    • RYR1 mutations are a common cause of congenital myopathies with central nuclei
    • Wilmshurst JM, Lillis S, Zhou H, et al. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010;68(5):717-726.
    • (2010) Ann Neurol , vol.68 , Issue.5 , pp. 717-726
    • Wilmshurst, J.M.1    Lillis, S.2    Zhou, H.3
  • 6
    • 5144224992 scopus 로고    scopus 로고
    • 111th ENMC International Workshop on Multi-minicore Disease: 2nd International MmD Workshop, 9-11 November 2002, Naarden, the Netherlands
    • Jungbluth H, Beggs A, Bonnemann C, et al. 111th ENMC International Workshop on Multi-minicore Disease: 2nd International MmD Workshop, 9-11 November 2002, Naarden, the Netherlands. Neuromuscul Disord. 2004;14(11):754-766.
    • (2004) Neuromuscul Disord , vol.14 , Issue.11 , pp. 754-766
    • Jungbluth, H.1    Beggs, A.2    Bonnemann, C.3
  • 8
    • 77950517340 scopus 로고    scopus 로고
    • Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene
    • Zhou H, Lillis S, Loy RE, et al. Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord. 2010;20(3):166-173.
    • (2010) Neuromuscul Disord , vol.20 , Issue.3 , pp. 166-173
    • Zhou, H.1    Lillis, S.2    Loy, R.E.3
  • 12
    • 62149092195 scopus 로고    scopus 로고
    • Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies
    • Voermans NC, Bonnemann CG, Hamel BC, Jungbluth H, Van Engelen BG. Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies. J Neurol. 2009;256(1):13-27.
    • (2009) J Neurol , vol.256 , Issue.1 , pp. 13-27
    • Voermans, N.C.1    Bonnemann, C.G.2    Hamel, B.C.3    Jungbluth, H.4    Van Engelen, B.G.5
  • 13
    • 77949393294 scopus 로고    scopus 로고
    • Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine
    • Mercuri E, Clements E, Offiah A, et al. Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol. 2010;67(2):201-208.
    • (2010) Ann Neurol , vol.67 , Issue.2 , pp. 201-208
    • Mercuri, E.1    Clements, E.2    Offiah, A.3
  • 14
    • 5144223640 scopus 로고    scopus 로고
    • Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations
    • Jungbluth H, Davis MR, Müller C, et al. Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord. 2004;14(12):785-790.
    • (2004) Neuromuscul Disord , vol.14 , Issue.12 , pp. 785-790
    • Jungbluth, H.1    Davis, M.R.2    Müller, C.3
  • 15
    • 33845934128 scopus 로고    scopus 로고
    • Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene
    • Fischer D, Herasse M, Ferreiro A, et al. Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene. Neurology. 2006;67(12):2217-2220.
    • (2006) Neurology , vol.67 , Issue.12 , pp. 2217-2220
    • Fischer, D.1    Herasse, M.2    Ferreiro, A.3
  • 18
    • 0036787899 scopus 로고    scopus 로고
    • Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)
    • Mercuri E, Talim B, Moghadaszadeh B, et al. Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). Neuromuscul Disord. 2002;12(7-8):631-638.
    • (2002) Neuromuscul Disord , vol.12 , Issue.7-8 , pp. 631-638
    • Mercuri, E.1    Talim, B.2    Moghadaszadeh, B.3
  • 20
    • 77950930695 scopus 로고    scopus 로고
    • Centronuclear myopathies: A widening concept
    • Romero NB. Centronuclear myopathies: a widening concept. Neuromuscul Disord. 2010;20(4):223-228.
    • (2010) Neuromuscul Disord , vol.20 , Issue.4 , pp. 223-228
    • Romero, N.B.1
  • 25
    • 77950919875 scopus 로고    scopus 로고
    • Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy
    • Susman RD, Quijano-Roy S, Yang N, et al. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscul Disord. 2010;20(4):229-237.
    • (2010) Neuromuscul Disord , vol.20 , Issue.4 , pp. 229-237
    • Susman, R.D.1    Quijano-Roy, S.2    Yang, N.3
  • 27
    • 77957860016 scopus 로고    scopus 로고
    • Neuromuscular imaging in inherited muscle diseases
    • Wattjes MP, Kley RA, Fischer D. Neuromuscular imaging in inherited muscle diseases. Eur Radiol. 2010;20(10):2447-2460.
    • (2010) Eur Radiol , vol.20 , Issue.10 , pp. 2447-2460
    • Wattjes, M.P.1    Kley, R.A.2    Fischer, D.3
  • 28
    • 77649249653 scopus 로고    scopus 로고
    • Selenoproteins and protection against oxidative stress: Selenoprotein N as a novel player at the crossroads of redox signaling and calcium homeostasis
    • Arbogast S, Ferreiro A. Selenoproteins and protection against oxidative stress: selenoprotein N as a novel player at the crossroads of redox signaling and calcium homeostasis. Antioxid Redox Signal. 2010;12(7):893-904.
    • (2010) Antioxid Redox Signal , vol.12 , Issue.7 , pp. 893-904
    • Arbogast, S.1    Ferreiro, A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.