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Volumn 43, Issue 9, 2003, Pages 560-563

Preferential distal muscle involvement in case of oculopharyngeal muscular dystrophy with (GCG) 13 expansion

Author keywords

Distal muscle atrophy; Oculopharyngeal muscular dystrophy; Poly (A) binding protein 2 gene

Indexed keywords

POLYADENYLIC ACID BINDING PROTEIN;

EID: 0347362731     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (14)

References (10)
  • 1
    • 0030775367 scopus 로고    scopus 로고
    • Recent studies on oculopharyngeal muscular dystrophy in Québec
    • Bouchard JP, Brais B, Brunet D, et al: Recent studies on oculopharyngeal muscular dystrophy in Québec. Neuromuscul Disord 1997; 7: S22-S29
    • (1997) Neuromuscul Disord , vol.7
    • Bouchard, J.P.1    Brais, B.2    Brunet, D.3
  • 2
    • 17344371397 scopus 로고    scopus 로고
    • Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
    • Brais B, Bouchard JP, Xie YG, et al: Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet 1998; 18: 164-167
    • (1998) Nat Genet , vol.18 , pp. 164-167
    • Brais, B.1    Bouchard, J.P.2    Xie, Y.G.3
  • 3
    • 0036186713 scopus 로고    scopus 로고
    • Unequal crossing-over in unique PABP2 mutations in Japanese patients: A possible cause of oculopharyngeal muscular dystrophy
    • Nakamoto M, Nakano S, Kawashima S, et al: Unequal crossing-over in unique PABP2 mutations in Japanese patients: a possible cause of oculopharyngeal muscular dystrophy. Arch Neurol 2002; 59: 474-477
    • (2002) Arch Neurol , vol.59 , pp. 474-477
    • Nakamoto, M.1    Nakano, S.2    Kawashima, S.3
  • 4
    • 0035068493 scopus 로고    scopus 로고
    • Urusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy
    • Schober R, Kreß W, Grahmann F, et al: Urusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy. Neuropathology 2001; 21: 45-52
    • (2001) Neuropathology , vol.21 , pp. 45-52
    • Schober, R.1    Kreß, W.2    Grahmann, F.3
  • 5
    • 0034620564 scopus 로고    scopus 로고
    • GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy
    • Mirabella M, Silvestri G, de Rosa G, et al: GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy. Neurology 2000; 54: 608-614
    • (2000) Neurology , vol.54 , pp. 608-614
    • Mirabella, M.1    Silvestri, G.2    De Rosa, G.3
  • 6
    • 0036135243 scopus 로고    scopus 로고
    • Neurogenic involvement in a case of oculopharyngeal muscular dystrophy
    • Boukriche Y, Maisonobe T, Masson C: Neurogenic involvement in a case of oculopharyngeal muscular dystrophy. Muscle Nerve 2002; 25: 98-101
    • (2002) Muscle Nerve , vol.25 , pp. 98-101
    • Boukriche, Y.1    Maisonobe, T.2    Masson, C.3
  • 7
    • 0035158048 scopus 로고    scopus 로고
    • GCG repeats and phenotype in oculopharyngeal muscular dystrophy
    • Müller T, Schröder R, Zierz S: GCG repeats and phenotype in oculopharyngeal muscular dystrophy. Muscle Nerve 2001; 24: 120-122
    • (2001) Muscle Nerve , vol.24 , pp. 120-122
    • Müller, T.1    Schröder, R.2    Zierz, S.3
  • 8
    • 0035100386 scopus 로고    scopus 로고
    • Oculopharyngeal muscular dystrophy: Phenotypic and genotypic studies in a UK population
    • Hill ME, Creed GA, McMullan TFW, et al: Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population. Brain 2001; 124: 522-526
    • (2001) Brain , vol.124 , pp. 522-526
    • Hill, M.E.1    Creed, G.A.2    McMullan, T.F.W.3
  • 9
    • 0034817325 scopus 로고    scopus 로고
    • Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy
    • Minami N, Ikezoe K, Kuroda H, et al: Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy. Neuromuscul Disord 2001; 11: 699-702
    • (2001) Neuromuscul Disord , vol.11 , pp. 699-702
    • Minami, N.1    Ikezoe, K.2    Kuroda, H.3
  • 10
    • 0346455283 scopus 로고    scopus 로고
    • Japanese source


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.