메뉴 건너뛰기




Volumn 136, Issue 12, 2013, Pages 3625-3633

Natural history of pulmonary function in collagen VI-related myopathies

(21)  Foley, A Reghan a   Quijano Roy, Susana b   Collins, James c   Straub, Volker d   McCallum, Michelle d   Deconinck, Nicolas e,f   Mercuri, Eugenio g   Pane, Marika g   D'Amico, Adele h   Bertini, Enrico h   North, Kathryn i   Ryan, Monique M j   Richard, Pascale k,l   Allamand, Valérie l,m,n   Hicks, Debbie d   Lamandé, Shireen j   Hu, Ying o   Gualandi, Francesca p   Auh, Sungyoung o   Muntoni, Francesco a   more..


Author keywords

Collagen VI related myopathies; Forced vital capacity; Natural history; Optimization of care; Outcome measure

Indexed keywords

COLLAGEN TYPE 6;

EID: 84893496921     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awt284     Document Type: Article
Times cited : (81)

References (35)
  • 1
    • 77952012386 scopus 로고    scopus 로고
    • 166th ENMC international workshop on collagen type VI-related myopathies
    • 22-24 May 2009, Naarden, The Netherlands
    • Allamand V, Merlini L, Bushby K. 166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, The Netherlands. Neuromuscul Disord 2010; 20: 346-54.
    • (2010) Neuromuscul Disord , vol.20 , pp. 346-354
    • Allamand, V.1    Merlini, L.2    Bushby, K.3
  • 2
    • 33846477445 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins
    • Angelin A, Tiepolo T, Sabatelli P, Grumati P, Bergamin N, Golfieri C, et al. Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc Natl Acad Sci USA 2007; 104: 991-6.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 991-996
    • Angelin, A.1    Tiepolo, T.2    Sabatelli, P.3    Grumati, P.4    Bergamin, N.5    Golfieri, C.6
  • 3
    • 79960101359 scopus 로고    scopus 로고
    • The collagen VI-related myopathies: Muscle meets its matrix
    • Bonnemann CG. The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol 2011; 7: 379-90.
    • (2011) Nat Rev Neurol , vol.7 , pp. 379-390
    • Bonnemann, C.G.1
  • 4
    • 79960078806 scopus 로고    scopus 로고
    • 173rd ENMC International Workshop: Congenital muscular dystrophy outcome measures
    • 5-7 March 2010, Naarden, The Netherlands
    • Bonnemann CG, Rutkowski A, Mercuri E, Muntoni F. 173rd ENMC International Workshop: congenital muscular dystrophy outcome measures 5-7 March 2010, Naarden, The Netherlands. Neuromuscul Disord 2011; 21: 513-22.
    • (2011) Neuromuscul Disord , vol.21 , pp. 513-522
    • Bonnemann, C.G.1    Rutkowski, A.2    Mercuri, E.3    Muntoni, F.4
  • 7
    • 72149108443 scopus 로고    scopus 로고
    • Diagnosis and management of Duchenne muscular dystrophy, part 1: Diagnosis, and pharmacological and psychosocial management
    • Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 2010; 9: 77-93.
    • (2010) Lancet Neurol , vol.9 , pp. 77-93
    • Bushby, K.1    Finkel, R.2    Birnkrant, D.J.3    Case, L.E.4    Clemens, P.R.5    Cripe, L.6
  • 9
    • 84860596035 scopus 로고    scopus 로고
    • Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001-2008
    • Clement EM, Feng L, Mein R, Sewry C, Robb SA, Manzur AY, et al. Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008. Neuromuscul Disord 2012; 22: 522-7.
    • (2012) Neuromuscul Disord , vol.22 , pp. 522-527
    • Clement, E.M.1    Feng, L.2    Mein, R.3    Sewry, C.4    Robb, S.A.5    Manzur, A.Y.6
  • 16
    • 0020054172 scopus 로고
    • Congenital muscular dystrophy: A clinicopathologic report of 24 cases
    • McMenamin JB, Becker LE, Murphy EG. Congenital muscular dystrophy: a clinicopathologic report of 24 cases. J Pediatr 1982; 100: 692-7.
    • (1982) J Pediatr , vol.100 , pp. 692-697
    • McMenamin, J.B.1    Becker, L.E.2    Murphy, E.G.3
  • 22
    • 34548459740 scopus 로고    scopus 로고
    • Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan
    • Okada M, Kawahara G, Noguchi S, Sugie K, Murayama K, Nonaka I, et al. Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. Neurology 2007; 69: 1035-42.
    • (2007) Neurology , vol.69 , pp. 1035-1042
    • Okada, M.1    Kawahara, G.2    Noguchi, S.3    Sugie, K.4    Murayama, K.5    Nonaka, I.6
  • 23
    • 0041664084 scopus 로고    scopus 로고
    • New molecular mechanism for Ullrich congenital muscular dystrophy: A heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype
    • Pan TC, Zhang RZ, Sudano DG, Marie SK, Bonnemann CG, Chu ML. New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. Am J Hum Genet 2003; 73: 355-69.
    • (2003) Am J Hum Genet , vol.73 , pp. 355-369
    • Pan, T.C.1    Zhang, R.Z.2    Sudano, D.G.3    Marie, S.K.4    Bonnemann, C.G.5    Chu, M.L.6
  • 24
    • 75149157915 scopus 로고    scopus 로고
    • Diurnal hypercapnia in patients with neuromuscular disease
    • Panitch HB. Diurnal hypercapnia in patients with neuromuscular disease. Paediatr Respir Rev 2010; 11: 3-8.
    • (2010) Paediatr Respir Rev , vol.11 , pp. 3-8
    • Panitch, H.B.1
  • 25
    • 0037114204 scopus 로고    scopus 로고
    • Changes in spirometry over time as a prognostic marker in patients with Duchenne muscular dystrophy
    • Phillips MF, Quinlivan RC, Edwards RH, Calverley PM. Changes in spirometry over time as a prognostic marker in patients with Duchenne muscular dystrophy. Am J Respir Crit Care Med 2001; 164: 2191-4.
    • (2001) Am J Respir Crit Care Med , vol.164 , pp. 2191-2194
    • Phillips, M.F.1    Quinlivan, R.C.2    Edwards, R.H.3    Calverley, P.M.4
  • 26
    • 0019432012 scopus 로고
    • Respiratory function in the muscular dystrophies
    • Rideau Y, Jankowski LW, Grellet J. Respiratory function in the muscular dystrophies. Muscle Nerve 1981; 4: 155-64.
    • (1981) Muscle Nerve , vol.4 , pp. 155-164
    • Rideau, Y.1    Jankowski, L.W.2    Grellet, J.3
  • 29
    • 77956521644 scopus 로고    scopus 로고
    • Surgical correction of spinal deformity in patients with congenital muscular dystrophy
    • Takaso M, Nakazawa T, Imura T, Okada T, Ueno M, Saito W, et al. Surgical correction of spinal deformity in patients with congenital muscular dystrophy. J Orthop Sci 2010; 15: 493-501.
    • (2010) J Orthop Sci , vol.15 , pp. 493-501
    • Takaso, M.1    Nakazawa, T.2    Imura, T.3    Okada, T.4    Ueno, M.5    Saito, W.6
  • 30
    • 65549104874 scopus 로고    scopus 로고
    • The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1(-/-) myopathic mice
    • Tiepolo T, Angelin A, Palma E, Sabatelli P, Merlini L, Nicolosi L, et al. The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1(-/-) myopathic mice. Br J Pharmacol 2009; 157: 1045-52.
    • (2009) Br J Pharmacol , vol.157 , pp. 1045-1052
    • Tiepolo, T.1    Angelin, A.2    Palma, E.3    Sabatelli, P.4    Merlini, L.5    Nicolosi, L.6
  • 31
    • 0000747486 scopus 로고
    • Kongenitale atonisch-sklerotische Muskeldystrophie ein weiterer Typus der heredodegeneration Erkrankungen des neuromuskulären Systems
    • Ullrich O. Kongenitale atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegeneration Erkrankungen des neuromuskulären Systems. Z Ges Neurol Psychiatry 1930; 126: 171-20.
    • (1930) Z Ges Neurol Psychiatry , vol.126 , pp. 171-220
    • Ullrich, O.1
  • 32
    • 0029887528 scopus 로고    scopus 로고
    • Goodness-of-fit in generalized nonlinear mixed-effects models
    • Vonesh EF, Chinchilli VM, Pu K. Goodness-of-fit in generalized nonlinear mixed-effects models. Biometrics 1996; 52: 572-87.
    • (1996) Biometrics , vol.52 , pp. 572-587
    • Vonesh, E.F.1    Chinchilli, V.M.2    Pu, K.3
  • 33
    • 0344687355 scopus 로고    scopus 로고
    • 117th ENMC workshop: Ventilatory support in congenital neuromuscular disorders-congenital myopathies congenital muscular dystrophies congenital myotonic dystrophy and SMA (II)
    • 4-6 April 2003, Naarden, The Netherlands
    • Wallgren-Pettersson C, Bushby K, Mellies U, Simonds A. 117th ENMC workshop: ventilatory support in congenital neuromuscular disorders-congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands. Neuromuscul Disord 2004; 14: 56-69.
    • (2004) Neuromuscul Disord , vol.14 , pp. 56-69
    • Wallgren-Pettersson, C.1    Bushby, K.2    Mellies, U.3    Simonds, A.4
  • 35


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.