-
1
-
-
77952012386
-
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
-
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
-
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
-
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
-
6
-
-
78149474863
-
Early onset collagen VI myopathies: Genetic and clinical correlations
-
Brinas L, Richard P, Quijano-Roy S, Gartioux C, Ledeuil C, Lacene E, et al. Early onset collagen VI myopathies: genetic and clinical correlations. Ann Neurol 2010; 68: 511-20.
-
(2010)
Ann Neurol
, vol.68
, pp. 511-520
-
-
Brinas, L.1
Richard, P.2
Quijano-Roy, S.3
Gartioux, C.4
Ledeuil, C.5
Lacene, E.6
-
7
-
-
72149108443
-
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
-
8
-
-
0035912809
-
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
-
Camacho Vanegas O, Bertini E, Zhang RZ, Petrini S, Minosse C, Sabatelli P, et al. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci USA 2001; 98: 7516-21.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 7516-7521
-
-
Camacho Vanegas, O.1
Bertini, E.2
Zhang, R.Z.3
Petrini, S.4
Minosse, C.5
Sabatelli, P.6
-
9
-
-
84860596035
-
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
-
11
-
-
4544272373
-
Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement
-
Finder JD, Birnkrant D, Carl J, Farber HJ, Gozal D, Iannaccone ST, et al. Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement. Am J Respir Crit Care Med 2004; 170: 456-65.
-
(2004)
Am J Respir Crit Care Med
, vol.170
, pp. 456-465
-
-
Finder, J.D.1
Birnkrant, D.2
Carl, J.3
Farber, H.J.4
Gozal, D.5
Iannaccone, S.T.6
-
12
-
-
70449522888
-
Autosomal recessive inheritance of classic Bethlem myopathy
-
Foley AR, Hu Y, Zou Y, Columbus A, Shoffner J, Dunn DM, et al. Autosomal recessive inheritance of classic Bethlem myopathy. Neuromuscul Disord 2009; 19: 813-7.
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 813-817
-
-
Foley, A.R.1
Hu, Y.2
Zou, Y.3
Columbus, A.4
Shoffner, J.5
Dunn, D.M.6
-
13
-
-
73349096286
-
Autosomal recessive Bethlem myopathy
-
Gualandi F, Urciuolo A, Martoni E, Sabatelli P, Squarzoni S, Bovolenta M, et al. Autosomal recessive Bethlem myopathy. Neurology 2009; 73: 1883-91.
-
(2009)
Neurology
, vol.73
, pp. 1883-1891
-
-
Gualandi, F.1
Urciuolo, A.2
Martoni, E.3
Sabatelli, P.4
Squarzoni, S.5
Bovolenta, M.6
-
16
-
-
0020054172
-
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
-
17
-
-
53049102499
-
Autosomal recessive myosclerosis myopathy is a collagen VI disorder
-
Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, et al. Autosomal recessive myosclerosis myopathy is a collagen VI disorder. Neurology 2008; 71: 1245-53.
-
(2008)
Neurology
, vol.71
, pp. 1245-1253
-
-
Merlini, L.1
Martoni, E.2
Grumati, P.3
Sabatelli, P.4
Squarzoni, S.5
Urciuolo, A.6
-
18
-
-
21744460289
-
Standardisation of spirometry
-
Miller MR, Hankinson J, Brusasco V, Burgos F, Casaburi R, Coates A, et al. Standardisation of spirometry. Eur Respir J 2005; 26: 319-38.
-
(2005)
Eur Respir J
, vol.26
, pp. 319-338
-
-
Miller, M.R.1
Hankinson, J.2
Brusasco, V.3
Burgos, F.4
Casaburi, R.5
Coates, A.6
-
19
-
-
0034000982
-
Mechanism of CO(2) retention in patients with neuromuscular disease
-
Misuri G, Lanini B, Gigliotti F, Iandelli I, Pizzi A, Bertolini MG, et al. Mechanism of CO(2) retention in patients with neuromuscular disease. Chest 2000; 117: 447-53.
-
(2000)
Chest
, vol.117
, pp. 447-453
-
-
Misuri, G.1
Lanini, B.2
Gigliotti, F.3
Iandelli, I.4
Pizzi, A.5
Bertolini, M.G.6
-
20
-
-
68249154901
-
Natural history of Ullrich congenital muscular dystrophy
-
Nadeau A, Kinali M, Main M, Jimenez-Mallebrera C, Aloysius A, Clement E, et al. Natural history of Ullrich congenital muscular dystrophy. Neurology 2009; 73: 25-31.
-
(2009)
Neurology
, vol.73
, pp. 25-31
-
-
Nadeau, A.1
Kinali, M.2
Main, M.3
Jimenez-Mallebrera, C.4
Aloysius, A.5
Clement, E.6
-
21
-
-
33745438663
-
Respiratory muscle testing: A valuable tool for children with neuromuscular disorders
-
Nicot F, Hart N, Forin V, Boule M, Clement A, Polkey MI, et al. Respiratory muscle testing: a valuable tool for children with neuromuscular disorders. Am J Respir Crit Care Med 2006; 174: 67-74.
-
(2006)
Am J Respir Crit Care Med
, vol.174
, pp. 67-74
-
-
Nicot, F.1
Hart, N.2
Forin, V.3
Boule, M.4
Clement, A.5
Polkey, M.I.6
-
22
-
-
34548459740
-
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
-
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
-
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
-
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
-
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
-
27
-
-
0037176883
-
Novel mutations in collagen VI genes: Expansion of the Bethlem myopathy phenotype
-
Scacheri PC, Gillanders EM, Subramony SH, Vedanarayanan V, Crowe CA, Thakore N, et al. Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. Neurology 2002; 58: 593-602.
-
(2002)
Neurology
, vol.58
, pp. 593-602
-
-
Scacheri, P.C.1
Gillanders, E.M.2
Subramony, S.H.3
Vedanarayanan, V.4
Crowe, C.A.5
Thakore, N.6
-
28
-
-
0023176137
-
Practical problems in the respiratory care of patients with muscular dystrophy
-
Smith PE, Calverley PM, Edwards RH, Evans GA, Campbell EJ. Practical problems in the respiratory care of patients with muscular dystrophy. N Engl J Med 1987; 316: 1197-205.
-
(1987)
N Engl J Med
, vol.316
, pp. 1197-1205
-
-
Smith, P.E.1
Calverley, P.M.2
Edwards, R.H.3
Evans, G.A.4
Campbell, E.J.5
-
29
-
-
77956521644
-
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
-
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
-
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
-
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
-
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
-
34
-
-
78650184558
-
Consensus statement on standard of care for congenital muscular dystrophies
-
Wang CH, Bonnemann CG, Rutkowski A, Sejersen T, Bellini J, Battista V, et al. Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol 2010; 25: 1559-81.
-
(2010)
J Child Neurol
, vol.25
, pp. 1559-1581
-
-
Wang, C.H.1
Bonnemann, C.G.2
Rutkowski, A.3
Sejersen, T.4
Bellini, J.5
Battista, V.6
-
35
-
-
84881551289
-
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy
-
Yonekawa T, Komaki H, Okada M, Hayashi YK, Nonaka I, Sugai K, et al. Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy. J Neurol Neurosurg Psychiatry 2013; 84: 982-9.
-
(2013)
J Neurol Neurosurg Psychiatry
, vol.84
, pp. 982-989
-
-
Yonekawa, T.1
Komaki, H.2
Okada, M.3
Hayashi, Y.K.4
Nonaka, I.5
Sugai, K.6
|