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Volumn 22, Issue SUPPL. 2, 2012, Pages

Muscle MRI findings in limb girdle muscular dystrophy type 2L

(21)  Sarkozy, Anna a   Deschauer, Marcus b   Carlier, Robert Yves c   Schrank, Bertold d   Seeger, Jürgen d   Walter, Maggie C e   Schoser, Benedikt e   Reilich, Peter e   Leturq, France f,g   Radunovic, Aleksandar h   Behin, Anthony i   Laforet, Pascal i   Eymard, Bruno i   Schreiber, Herbert j   Hicks, Debbie a   Vaidya, Sujit S g   Gläser, Dieter k   Carlier, Pierre G l   Bushby, Kate a   Lochmüller, Hanns a   more..

g INSERM   (France)

Author keywords

ANO5; LGM2L; MRI

Indexed keywords

ADOLESCENT; ADULT; AGED; ANOCTAMIN 5 GENE; ARTICLE; CLINICAL ARTICLE; FEMALE; GENE; GENE MUTATION; GLUTEUS MAXIMUS MUSCLE; GRACILIS MUSCLE; HETEROZYGOSITY; HUMAN; IMAGE ANALYSIS; IMAGE QUALITY; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MUSCLE EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SARTORIUS MUSCLE; SEMIMEMBRANOSUS MUSCLE; SEMITENDINOUS MUSCLE; SKELETAL MUSCLE;

EID: 84866294123     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.05.012     Document Type: Article
Times cited : (73)

References (12)
  • 1
    • 76249096210 scopus 로고    scopus 로고
    • Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies
    • Bolduc V., et al. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet 2010, 86(2):213-221.
    • (2010) Am J Hum Genet , vol.86 , Issue.2 , pp. 213-221
    • Bolduc, V.1
  • 2
    • 78650687723 scopus 로고    scopus 로고
    • A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy
    • Hicks D., et al. A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. Brain 2011, 134(Pt 1):171-182.
    • (2011) Brain , vol.134 , Issue.PART. 1 , pp. 171-182
    • Hicks, D.1
  • 3
    • 54049133776 scopus 로고    scopus 로고
    • Distinct muscle imaging patterns in myofibrillar myopathies
    • Fischer D., et al. Distinct muscle imaging patterns in myofibrillar myopathies. Neurology 2008, 71(10):758-765.
    • (2008) Neurology , vol.71 , Issue.10 , pp. 758-765
    • Fischer, D.1
  • 4
    • 20144389374 scopus 로고    scopus 로고
    • Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy
    • Mercuri E., Lampe A., Allsop J., et al. Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscul Disord 2005 Apr, 15(4):303-310.
    • (2005) Neuromuscul Disord , vol.15 , Issue.4 , pp. 303-310
    • Mercuri, E.1    Lampe, A.2    Allsop, J.3
  • 5
    • 77949393294 scopus 로고    scopus 로고
    • Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine
    • Mercuri E., 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
  • 7
    • 77955159118 scopus 로고    scopus 로고
    • Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies
    • Paradas C., et al. Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies. Neurology 2010, 75(4):316-323.
    • (2010) Neurology , vol.75 , Issue.4 , pp. 316-323
    • Paradas, C.1
  • 8
    • 84856401688 scopus 로고    scopus 로고
    • Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings
    • Deschauer M., Joshi P.R., Gläser D., Hanisch F., Stoltenburg G., Zierz S. Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings. Nervenarzt 2011 Dec, 82(12):1596-1603.
    • (2011) Nervenarzt , vol.82 , Issue.12 , pp. 1596-1603
    • Deschauer, M.1    Joshi, P.R.2    Gläser, D.3    Hanisch, F.4    Stoltenburg, G.5    Zierz, S.6
  • 9
    • 84857789130 scopus 로고    scopus 로고
    • Miyoshi-like distal myopathy with mutations in anoctamin 5 gene?
    • Bouquet F., Cossée M., Béhin A., et al. Miyoshi-like distal myopathy with mutations in anoctamin 5 gene?. Rev Neurologique 2012, 168:135-141.
    • (2012) Rev Neurologique , vol.168 , pp. 135-141
    • Bouquet, F.1    Cossée, M.2    Béhin, A.3
  • 10
    • 33846837612 scopus 로고    scopus 로고
    • Muscle MRI in inherited neuromuscular disorders: past, present, and future
    • Mercuri E., et al. Muscle MRI in inherited neuromuscular disorders: past, present, and future. J Magn Reson Imaging 2007, 25(2):433-440.
    • (2007) J Magn Reson Imaging , vol.25 , Issue.2 , pp. 433-440
    • Mercuri, E.1
  • 11
    • 77957860016 scopus 로고    scopus 로고
    • Neuromuscular imaging in inherited muscle diseases
    • Wattjes M.P., Kley R.A., Fischer D. Neuromuscular imaging in inherited muscle diseases. Eur Radiol 2010 Oct, 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.