메뉴 건너뛰기




Volumn 259, Issue 7, 2012, Pages 1358-1365

Muscle imaging findings in GNE myopathy

Author keywords

Biceps femoris; DMRV; GNE myopathy; HIBM; Muscle imaging; Muscle M.R.I.

Indexed keywords

PHOSPHOTRANSFERASE; UDP N ACETYLGLUCOSAMINE 2 EPIMERASE N ACETYLMANNOSAMINE KINASE; UNCLASSIFIED DRUG;

EID: 84864285013     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-6357-6     Document Type: Article
Times cited : (58)

References (34)
  • 3
    • 69749113154 scopus 로고    scopus 로고
    • Hereditary inclusion-body myopathy: Clues on pathogenesis and possible therapy
    • Broccolini A, Gidaro T, Morosetti R, Mirabella M (2009) Hereditary inclusion-body myopathy: clues on pathogenesis and possible therapy. Muscle Nerve 40:340-349
    • (2009) Muscle Nerve , vol.40 , pp. 340-349
    • Broccolini, A.1    Gidaro, T.2    Morosetti, R.3    Mirabella, M.4
  • 4
    • 0346219378 scopus 로고    scopus 로고
    • A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation
    • DOI 10.1016/S0960-8966(03)00140-8
    • Krause S, Schlotter-Weigel B, Walter MC, Najmabadi H, Wiendl H, Muller-Hocker J, Muller-Felber W, Pongratz D, Lochmuller H (2003) A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation. Neuromuscul Disord 13:830-834 (Pubitemid 37532734)
    • (2003) Neuromuscular Disorders , vol.13 , Issue.10 , pp. 830-834
    • Krause, S.1    Schlotter-Weigel, B.2    Walter, M.C.3    Najmabadi, H.4    Wiendl, H.5    Muller-Hocker, J.6    Muller-Felber, W.7    Pongratz, D.8    Lochmuller, H.9
  • 8
    • 0037058801 scopus 로고    scopus 로고
    • GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM
    • Vasconcelos OM, Raju R, Dalakas MC (2002) GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM. Neurology 59:1776-1779 (Pubitemid 35424463)
    • (2002) Neurology , vol.59 , Issue.11 , pp. 1776-1779
    • Vasconcelos, O.M.1    Raju, R.2    Dalakas, M.C.3
  • 9
    • 0036431973 scopus 로고    scopus 로고
    • Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737)
    • DOI 10.1016/S1096-7192(02)00141-5, PII S1096719202001415
    • Darvish D, Vahedifar P, Huo Y (2002) Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737). Mol Genet Metab 77:252-256 (Pubitemid 35333831)
    • (2002) Molecular Genetics and Metabolism , vol.77 , Issue.3 , pp. 252-256
    • Darvish, D.1    Vahedifar, P.2    Huo, Y.3
  • 10
    • 0021320516 scopus 로고
    • 'Rimmed vacuole myopathy' sparing the quadriceps. A unique disorder in Iranian Jews
    • DOI 10.1016/0022-510X(84)90053-4
    • Argov Z, Yarom R (1984) "Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews. J Neurol Sci 64:33-43 (Pubitemid 14149184)
    • (1984) Journal of the Neurological Sciences , vol.64 , Issue.1 , pp. 33-43
    • Argov, Z.1    Yarom, R.2
  • 14
    • 34548119927 scopus 로고    scopus 로고
    • Hereditary inclusion body myopathy with a novel mutation in the GNE gene associated with proximal leg weakness and necrotizing myopathy [10]
    • DOI 10.1111/j.1468-1331.2007.01905.x
    • Motozaki Y, Komai K, Hirohata M, Asaka T, Ono K, Yamada M (2007) Hereditary inclusion body myopathy with a novel mutation in the GNE gene associated with proximal leg weakness and necrotizing myopathy. Eur J Neurol 14:e14-e15 (Pubitemid 47300784)
    • (2007) European Journal of Neurology , vol.14 , Issue.9
    • Motozaki, Y.1    Komai, K.2    Hirohata, M.3    Asaka, T.4    Ono, K.5    Yamada, M.6
  • 21
    • 77957860016 scopus 로고    scopus 로고
    • Neuromuscular imaging in inherited muscle diseases
    • Wattjes MP, Kley RA, Fischer D (2010) Neuromuscular imaging in inherited muscle diseases. Eur Radiol 20:2447-2460
    • (2010) Eur Radiol , vol.20 , pp. 2447-2460
    • Wattjes, M.P.1    Kley, R.A.2    Fischer, D.3
  • 23
    • 36349012566 scopus 로고    scopus 로고
    • Muscle sonography in six patients with hereditary inclusion body myopathy
    • DOI 10.1007/s00256-007-0367-6
    • Adler RS, Garolfalo G, Paget S, Kagen L (2008) Muscle sonography in six patients with hereditary inclusion body myopathy. Skeletal Radiol 37:43-48 (Pubitemid 350160499)
    • (2008) Skeletal Radiology , vol.37 , Issue.1 , pp. 43-48
    • Adler, R.S.1    Garolfalo, G.2    Paget, S.3    Kagen, L.4
  • 32
    • 67651232854 scopus 로고    scopus 로고
    • Pattern of skeletal muscle involvement in primary dysferlinopathies: A whole-body 3.0-T magnetic resonance imaging study
    • Kesper K, Kornblum C, Reimann J, Lutterbey G, Schröder R, Wattjes MP (2009) Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study. Acta Neurol Scand 120:111-118
    • (2009) Acta Neurol Scand , vol.120 , pp. 111-118
    • Kesper, K.1    Kornblum, C.2    Reimann, J.3    Lutterbey, G.4    Schröder, R.5    Wattjes, M.P.6
  • 33


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.