메뉴 건너뛰기




Volumn 168, Issue 12, 2012, Pages 919-926

Diagnostic strategy for limb-girdle muscular dystrophies

Author keywords

Diagnostic strategy; Limb girdle dystrophies; Muscular proteins

Indexed keywords

ARTICLE; DIAGNOSTIC PROCEDURE; GENE MUTATION; GENETIC SCREENING; HISTOPATHOLOGY; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE BIOPSY; PROTEIN DEFICIENCY;

EID: 84870675375     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurol.2012.03.003     Document Type: Article
Times cited : (3)

References (17)
  • 2
    • 33846325178 scopus 로고    scopus 로고
    • The limb-girdle muscular dystrophies-diagnostic strategies
    • K. Bushby, F. Norwood, and V. Straub The limb-girdle muscular dystrophies-diagnostic strategies Biochim Biophys Acta 1772 2007 238 242
    • (2007) Biochim Biophys Acta , vol.1772 , pp. 238-242
    • Bushby, K.1    Norwood, F.2    Straub, V.3
  • 3
    • 84870684127 scopus 로고    scopus 로고
    • Dystrophies musculaires des ceintures : stratégie diagnostique, bases moléculaires
    • E. Campana-Salort, M. Krahn, M. Bartoli, I. Richard, J. Pouget, and N. Levy Dystrophies musculaires des ceintures : stratégie diagnostique, bases moléculaires Rev Rhum 75 2008 1423 2150
    • (2008) Rev Rhum , vol.75 , pp. 1423-2150
    • Campana-Salort, E.1    Krahn, M.2    Bartoli, M.3    Richard, I.4    Pouget, J.5    Levy, N.6
  • 4
    • 77955271380 scopus 로고    scopus 로고
    • Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern
    • N. Deconinck, E. Dion, R. Ben Yaou, A. Ferreiro, B. Eymard, and L. Brinas Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern Neuromuscul Disord 20 2010 517 523
    • (2010) Neuromuscul Disord , vol.20 , pp. 517-523
    • Deconinck, N.1    Dion, E.2    Ben Yaou, R.3    Ferreiro, A.4    Eymard, B.5    Brinas, L.6
  • 5
    • 33847647994 scopus 로고    scopus 로고
    • Myopathy associated with anti-signal recognition peptide antibodies: Clinical heterogeneity contrast with stereotyped histopathology
    • D. Dimitri, C. Andre, J. Roucoules, H. Hosseini, R.L. Humbel, and F.J. Authier Myopathy associated with anti-signal recognition peptide antibodies: clinical heterogeneity contrast with stereotyped histopathology Muscle Nerve 35 2007 389 395
    • (2007) Muscle Nerve , vol.35 , pp. 389-395
    • Dimitri, D.1    Andre, C.2    Roucoules, J.3    Hosseini, H.4    Humbel, R.L.5    Authier, F.J.6
  • 10
    • 84859217695 scopus 로고    scopus 로고
    • Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy
    • doi:1002/ana.22683 [Epub ahead of print]
    • M.B. Harms, R.B. Sommerville, P. Allred, S. Bell, D. Ma, and P. Cooper Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy Ann Neurol 2012 doi:1002/ana.22683 [Epub ahead of print]
    • (2012) Ann Neurol
    • Harms, M.B.1    Sommerville, R.B.2    Allred, P.3    Bell, S.4    Ma, D.5    Cooper, P.6
  • 11
    • 78650687723 scopus 로고    scopus 로고
    • A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy
    • D. Hicks, A. Sarkozy, N. Muelas, K. Koehler, A. Huebner, and G. Hudson A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy Brain 134 2011 171 182
    • (2011) Brain , vol.134 , pp. 171-182
    • Hicks, D.1    Sarkozy, A.2    Muelas, N.3    Koehler, K.4    Huebner, A.5    Hudson, G.6
  • 13
    • 0030882270 scopus 로고    scopus 로고
    • Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23
    • D.N. Messina, M.C. Speer, M.A. Pericak-Vance, and E.M. McNally Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23 Am J Hum Genet 61 1997 909 917
    • (1997) Am J Hum Genet , vol.61 , pp. 909-917
    • Messina, D.N.1    Speer, M.C.2    Pericak-Vance, M.A.3    McNally, E.M.4
  • 14
    • 33847232234 scopus 로고    scopus 로고
    • A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay
    • A. Milic, N. Daniele, H. Lochmüller, M. Mora, G.P. Comi, and M. Moggio A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay Neuromuscul Disord 17 2007 148 156
    • (2007) Neuromuscul Disord , vol.17 , pp. 148-156
    • Milic, A.1    Daniele, N.2    Lochmüller, H.3    Mora, M.4    Comi, G.P.5    Moggio, M.6
  • 15
    • 67349116397 scopus 로고    scopus 로고
    • Clinical outcome in 19 French and Spanish patients with valosin containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia
    • T. Stojkovic, H. Hammouda El, P. Richard, A. López de Munain, J. Ruiz-Martinez, and P. Camaño Clinical outcome in 19 French and Spanish patients with valosin containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia Neuromuscul Disord 19 2009 316 323
    • (2009) Neuromuscul Disord , vol.19 , pp. 316-323
    • Stojkovic, T.1    Hammouda El, H.2    Richard, P.3    López De Munain, A.4    Ruiz-Martinez, J.5    Camaño, P.6
  • 16
    • 10044247184 scopus 로고    scopus 로고
    • A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21
    • A. Starling, F. Kok, M.R. Passos-Bueno, M. Vainzof, and M. Zatz A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21 Eur J Hum Genet 12 2004 1033 1040
    • (2004) Eur J Hum Genet , vol.12 , pp. 1033-1040
    • Starling, A.1    Kok, F.2    Passos-Bueno, M.R.3    Vainzof, M.4    Zatz, M.5
  • 17
    • 84865861518 scopus 로고    scopus 로고
    • Next generation sequencing for molecular diagnosis of neuromuscular diseases
    • doi 10.1007/s00401-012-0982-8, (Epub ahead of print)
    • N. Vasli, J. Böhm, S. Le Gras, J. Muler, C. Pizot, and B. Jost Next generation sequencing for molecular diagnosis of neuromuscular diseases Acta Neuropathol 2012 doi 10.1007/s00401-012-0982-8, (Epub ahead of print)
    • (2012) Acta Neuropathol
    • Vasli, N.1    Böhm, J.2    Le Gras, S.3    Muler, J.4    Pizot, C.5    Jost, B.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.