-
1
-
-
0037160782
-
The muscular dystrophies
-
Emery AE. The muscular dystrophies. Lancet 2002; 359: 687-95.
-
(2002)
Lancet
, vol.359
, pp. 687-695
-
-
Emery, A.E.1
-
2
-
-
84864449491
-
The ever expanding spectrum of congenital muscular dystrophies
-
Mercuri E, Muntoni F. The ever expanding spectrum of congenital muscular dystrophies. Ann Neurol 2012; 72: 9-17.
-
(2012)
Ann Neurol
, vol.72
, pp. 9-17
-
-
Mercuri, E.1
Muntoni, F.2
-
4
-
-
76549130473
-
Diagnosis and management of Duchenne muscular dystrophy, part 2: Implementation of multidisciplinary care
-
Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol 2010; 9: 177-89.
-
(2010)
Lancet Neurol
, vol.9
, pp. 177-189
-
-
Bushby, K.1
Finkel, R.2
Birnkrant, D.J.3
-
5
-
-
72149108443
-
Diagnosis and management of Duchenne muscular dystrophy, part 1: Diagnosis, and pharmacological and psychosocial management
-
Bushby K, Finkel R, Birnkrant DJ, 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
-
6
-
-
77957753154
-
170th ENMC international workshop: Bone protection for corticosteroid treated duchenne muscular dystrophy. 27-29 November, 2009, Naarden, the Netherlands
-
Quinlivan R, Shaw N, Bushby K. 170th ENMC International Workshop: bone protection for corticosteroid treated Duchenne muscular dystrophy. 27-29 November 2009, Naarden, The Netherlands. Neuromuscul Disord 2010; 20: 761-69.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 761-769
-
-
Quinlivan, R.1
Shaw, N.2
Bushby, K.3
-
7
-
-
78650184558
-
Consensus statement on standard of care for congenital muscular dystrophies
-
Wang CH, Bonnemann CG, Rutkowski A, 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
-
8
-
-
77954035380
-
171st ENMC international workshop: Standards of care and management of facioscapulohumeral muscular dystrophy
-
Tawil R, van der Maarel S, Padberg GW, van Engelen BG. 171st ENMC international workshop: standards of care and management of facioscapulohumeral muscular dystrophy. Neuromuscul Disord 2010; 20: 471-75.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 471-475
-
-
Tawil, R.1
Van Der Maarel, S.2
Padberg, G.W.3
Van Engelen, B.G.4
-
9
-
-
0036895043
-
Survival in Duchenne muscular dystrophy: Improvements in life expectancy since 1967 and the impact of home nocturnal ventilation
-
Eagle M, Baudouin SV, Chandler C, Giddings DR, Bullock R, Bushby K. Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord 2002; 12: 926-29.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 926-929
-
-
Eagle, M.1
Baudouin, S.V.2
Chandler, C.3
Giddings, D.R.4
Bullock, R.5
Bushby, K.6
-
10
-
-
34249099687
-
Managing Duchenne muscular dystrophy-the additive effect of spinal surgery and home nocturnal ventilation in improving survival
-
Eagle M, Bourke J, Bullock R, et al. Managing Duchenne muscular dystrophy-the additive effect of spinal surgery and home nocturnal ventilation in improving survival. Neuromuscul Disord 2007; 17: 470-75.
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 470-475
-
-
Eagle, M.1
Bourke, J.2
Bullock, R.3
-
11
-
-
77956104812
-
The respiratory management of patients with Duchenne muscular dystrophy: A DMD care considerations working group specialty article
-
Birnkrant DJ, Bushby KM, Amin RS, et al. The respiratory management of patients with Duchenne muscular dystrophy: a DMD care considerations working group specialty article. Pediatr Pulmonol 2010; 45: 739-48.
-
(2010)
Pediatr Pulmonol
, vol.45
, pp. 739-748
-
-
Birnkrant, D.J.1
Bushby, K.M.2
Amin, R.S.3
-
12
-
-
79960665553
-
Duchenne muscular dystrophy: Continuous noninvasive ventilatory support prolongs survival
-
Bach JR, Martinez D. Duchenne muscular dystrophy: continuous noninvasive ventilatory support prolongs survival. Respir Care 2011; 56: 744-50.
-
(2011)
Respir Care
, vol.56
, pp. 744-750
-
-
Bach, J.R.1
Martinez, D.2
-
13
-
-
80051478879
-
Functional changes in Duchenne muscular dystrophy: A 12-month longitudinal cohort study
-
Mazzone E, Vasco G, Sormani MP, et al. Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study. Neurology 2011; 77: 250-56.
-
(2011)
Neurology
, vol.77
, pp. 250-256
-
-
Mazzone, E.1
Vasco, G.2
Sormani, M.P.3
-
14
-
-
84865550123
-
Clinical outcome measures for trials in Duchenne muscular dystrophy: Report from International Working Group meetings
-
Bushby K, Connor E. Clinical outcome measures for trials in Duchenne muscular dystrophy: report from International Working Group meetings. Clin Invest 2011; 1: 1217-35.
-
(2011)
Clin Invest
, vol.1
, pp. 1217-1235
-
-
Bushby, K.1
Connor, E.2
-
15
-
-
77952009340
-
The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: Report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009
-
Muntoni F. The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009. Neuromuscul Disord 2010; 20: 355-62.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 355-362
-
-
Muntoni, F.1
-
16
-
-
4444234437
-
The congenital muscular dystrophies in 2004: A century of exciting progress
-
Muntoni F, Voit T. The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromuscul Disord 2004; 14: 635-49.
-
(2004)
Neuromuscul Disord
, vol.14
, pp. 635-649
-
-
Muntoni, F.1
Voit, T.2
-
17
-
-
20144388364
-
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene
-
Balci B, Uyanik G, Dincer P, et al. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromuscul Disord 2005; 15: 271-75.
-
(2005)
Neuromuscul Disord
, vol.15
, pp. 271-275
-
-
Balci, B.1
Uyanik, G.2
Dincer, P.3
-
18
-
-
4243834586
-
A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype
-
de Bernabe DB, van Bokhoven H, van Beusekom E, et al. A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. J Med Genet 2003; 40: 845-48.
-
(2003)
J Med Genet
, vol.40
, pp. 845-848
-
-
De Bernabe, D.B.1
Van Bokhoven, H.2
Van Beusekom, E.3
-
20
-
-
34250352221
-
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome
-
van Reeuwijk J, Grewal PK, Salih MA, et al. Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet 2007; 121: 685-90.
-
(2007)
Hum Genet
, vol.121
, pp. 685-690
-
-
Van Reeuwijk, J.1
Grewal, P.K.2
Salih, M.A.3
-
21
-
-
33646356732
-
The expanding phenotype of POMT1 mutations: From Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation
-
van Reeuwijk J, Maugenre S, van den Elzen C, et al. The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Hum Mutat 2006; 27: 453-59.
-
(2006)
Hum Mutat
, vol.27
, pp. 453-459
-
-
Van Reeuwijk, J.1
Maugenre, S.2
Van Den Elzen, C.3
-
22
-
-
0032977685
-
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
-
Bonne G, Di Barletta MR, Varnous S, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999; 21: 285-88.
-
(1999)
Nat Genet
, vol.21
, pp. 285-288
-
-
Bonne, G.1
Di Barletta, M.R.2
Varnous, S.3
-
23
-
-
0033865686
-
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
-
Bonne G, Mercuri E, Muchir A, et al. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 2000; 48: 170-80.
-
(2000)
Ann Neurol
, vol.48
, pp. 170-180
-
-
Bonne, G.1
Mercuri, E.2
Muchir, A.3
-
24
-
-
2442589861
-
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: From congenital onset with severe phenotype to milder classic Emery-Dreifuss variant
-
Mercuri E, Poppe M, Quinlivan R, et al. Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. Arch Neurol 2004; 61: 690-94.
-
(2004)
Arch Neurol
, vol.61
, pp. 690-694
-
-
Mercuri, E.1
Poppe, M.2
Quinlivan, R.3
-
26
-
-
33745715007
-
Facioscapulohumeral muscular dystrophy
-
Tawil R, Van Der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve 2006; 34: 1-15.
-
(2006)
Muscle Nerve
, vol.34
, pp. 1-15
-
-
Tawil, R.1
Van Der Maarel, S.M.2
-
28
-
-
9144248503
-
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I
-
Poppe M, Bourke J, Eagle M, et al. Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. Ann Neurol 2004; 56: 738-41.
-
(2004)
Ann Neurol
, vol.56
, pp. 738-741
-
-
Poppe, M.1
Bourke, J.2
Eagle, M.3
-
29
-
-
0037461292
-
The phenotype of limb-girdle muscular dystrophy type 2I
-
Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle muscular dystrophy type 2I. Neurology 2003; 60: 1246-51.
-
(2003)
Neurology
, vol.60
, pp. 1246-1251
-
-
Poppe, M.1
Cree, L.2
Bourke, J.3
-
30
-
-
18144383891
-
LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype
-
Schwartz M, Hertz JM, Sveen ML, Vissing J. LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype. Neurology 2005; 64: 1635-37.
-
(2005)
Neurology
, vol.64
, pp. 1635-1637
-
-
Schwartz, M.1
Hertz, J.M.2
Sveen, M.L.3
Vissing, J.4
-
31
-
-
33646353390
-
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark
-
Sveen ML, Schwartz M, Vissing J. High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. Ann Neurol 2006; 59: 808-15.
-
(2006)
Ann Neurol
, vol.59
, pp. 808-815
-
-
Sveen, M.L.1
Schwartz, M.2
Vissing, J.3
-
32
-
-
0029061267
-
Clinical phenotype in congenital muscular dystrophy: Correlation with expression of merosin in skeletal muscle
-
Philpot J, Sewry C, Pennock J, Dubowitz V. Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle. Neuromuscul Disord 1995; 5: 301-05.
-
(1995)
Neuromuscul Disord
, vol.5
, pp. 301-305
-
-
Philpot, J.1
Sewry, C.2
Pennock, J.3
Dubowitz, V.4
-
33
-
-
0028232215
-
Congenital muscular dystrophy with merosin deficiency
-
Tome FM, Evangelista T, Leclerc A, et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III 1994; 317: 351-57.
-
(1994)
C R Acad Sci III
, vol.317
, pp. 351-357
-
-
Tome, F.M.1
Evangelista, T.2
Leclerc, A.3
-
34
-
-
77953541564
-
Congenital muscular dystrophy
-
Squire LR, ed Oxford: Academic Press
-
Bonnemann CG. Congenital muscular dystrophy. In: Squire LR, ed. Encyclopedia of Neuroscience. Oxford: Academic Press, 2009: 67-74.
-
(2009)
Encyclopedia of Neuroscience
, pp. 67-74
-
-
Bonnemann, C.G.1
-
35
-
-
84860596035
-
Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001-2008
-
Clement EM, Feng L, Mein R, et al. Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008. Neuromuscul Disord 2012; 22: 522-27.
-
(2012)
Neuromuscul Disord
, vol.22
, pp. 522-527
-
-
Clement, E.M.1
Feng, L.2
Mein, R.3
-
36
-
-
0032505556
-
The muscular dystrophies
-
Emery AE. The muscular dystrophies. BMJ 1998; 317: 991-95.
-
(1998)
BMJ
, vol.317
, pp. 991-995
-
-
Emery, A.E.1
-
37
-
-
77956279025
-
Cardiac findings in congenital muscular dystrophies
-
Finsterer J, Ramaciotti C, Wang CH, et al. Cardiac findings in congenital muscular dystrophies. Pediatrics 2010; 126: 538-45.
-
(2010)
Pediatrics
, vol.126
, pp. 538-545
-
-
Finsterer, J.1
Ramaciotti, C.2
Wang, C.H.3
-
38
-
-
84857099915
-
Cardiac involvement in muscular dystrophy: Advances in diagnosis and therapy
-
Yilmaz A, Sechtem U. Cardiac involvement in muscular dystrophy: advances in diagnosis and therapy. Heart 2102; 98: 420-29.
-
Heart
, vol.98
, pp. 420-429
-
-
Yilmaz, A.1
Sechtem, U.2
-
39
-
-
77955267033
-
Hereditary muscular dystrophies and the heart
-
Hermans MC, Pinto YM, Merkies IS, de Die-Smulders CE, Crijns HJ, Faber CG. Hereditary muscular dystrophies and the heart. Neuromuscul Disord 2010; 20: 479-92.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 479-492
-
-
Hermans, M.C.1
Pinto, Y.M.2
Merkies, I.S.3
De Die-Smulders, C.E.4
Crijns, H.J.5
Faber, C.G.6
-
40
-
-
51349127853
-
Cognitive and adaptive deficits in young children with Duchenne muscular dystrophy (DMD)
-
Cyrulnik SE, Fee RJ, Batchelder A, Kiefel J, Goldstein E, Hinton VJ. Cognitive and adaptive deficits in young children with Duchenne muscular dystrophy (DMD). J Int Neuropsychol Soc 2008; 14: 853-61.
-
(2008)
J Int Neuropsychol Soc
, vol.14
, pp. 853-861
-
-
Cyrulnik, S.E.1
Fee, R.J.2
Batchelder, A.3
Kiefel, J.4
Goldstein, E.5
Hinton, V.J.6
-
41
-
-
84866732900
-
Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: Phenotype-genotype correlation
-
Pane M, Lombardo ME, Alfieri P, et al. Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation. J Pediatr 2012; 161: 705-09.e1.
-
(2012)
J Pediatr
, vol.161
-
-
Pane, M.1
Lombardo, M.E.2
Alfieri, P.3
-
42
-
-
57749100373
-
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation
-
Clement E, Mercuri E, Godfrey C, et al. Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol 2008; 64: 573-82.
-
(2008)
Ann Neurol
, vol.64
, pp. 573-582
-
-
Clement, E.1
Mercuri, E.2
Godfrey, C.3
-
43
-
-
33846837612
-
Muscle MRI in inherited neuromuscular disorders: Past, present, and future
-
Mercuri E, Pichiecchio A, Allsop J, Messina S, Pane M, Muntoni F. Muscle MRI in inherited neuromuscular disorders: past, present, and future. J Magn Reson Imaging 2007; 25: 433-40.
-
(2007)
J Magn Reson Imaging
, vol.25
, pp. 433-440
-
-
Mercuri, E.1
Pichiecchio, A.2
Allsop, J.3
Messina, S.4
Pane, M.5
Muntoni, F.6
-
44
-
-
84855744036
-
Use of skeletal muscle MRI in diagnosis and monitoring disease progression in Duchenne muscular dystrophy
-
ix
-
Finanger EL, Russman B, Forbes SC, Rooney WD, Walter GA, Vandenborne K. Use of skeletal muscle MRI in diagnosis and monitoring disease progression in Duchenne muscular dystrophy. Phys Med Rehabil Clin N Am 2012; 23: 1-10, ix.
-
(2012)
Phys Med Rehabil Clin N Am
, vol.23
, pp. 1-10
-
-
Finanger, E.L.1
Russman, B.2
Forbes, S.C.3
Rooney, W.D.4
Walter, G.A.5
Vandenborne, K.6
-
45
-
-
67349284686
-
Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy
-
Kan HE, Scheenen TW, Wohlgemuth M, et al. Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy. Neuromuscul Disord 2009; 19: 357-62.
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 357-362
-
-
Kan, H.E.1
Scheenen, T.W.2
Wohlgemuth, M.3
-
46
-
-
13444302401
-
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures
-
Mercuri E, Bushby K, Ricci E, et al. Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. Neuromuscul Disord 2005;15: 164-71.
-
(2005)
Neuromuscul Disord
, vol.15
, pp. 164-171
-
-
Mercuri, E.1
Bushby, K.2
Ricci, E.3
-
47
-
-
20044372006
-
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs
-
Fischer D, Walter MC, Kesper K, et al. Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. J Neurol 2005; 252: 538-47.
-
(2005)
J Neurol
, vol.252
, pp. 538-547
-
-
Fischer, D.1
Walter, M.C.2
Kesper, K.3
-
48
-
-
33845667987
-
Leg muscle involvement in facioscapulohumeral muscular dystrophy assessed by MRI
-
Olsen DB, Gideon P, Jeppesen TD, Vissing J. Leg muscle involvement in facioscapulohumeral muscular dystrophy assessed by MRI. J Neurol 2006; 253: 1437-41.
-
(2006)
J Neurol
, vol.253
, pp. 1437-1441
-
-
Olsen, D.B.1
Gideon, P.2
Jeppesen, T.D.3
Vissing, J.4
-
49
-
-
69249230932
-
Delayed diagnosis in Duchenne muscular dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)
-
Ciafaloni E, Fox DJ, Pandya S, et al. Delayed diagnosis in Duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). J Pediatr 2009; 155: 380-85.
-
(2009)
J Pediatr
, vol.155
, pp. 380-385
-
-
Ciafaloni, E.1
Fox, D.J.2
Pandya, S.3
-
50
-
-
79952740316
-
Endocrine aspects of Duchenne muscular dystrophy
-
Bianchi ML, Biggar D, Bushby K, Rogol AD, Rutter MM, Tseng B. Endocrine aspects of Duchenne muscular dystrophy. Neuromuscul Disord 2011; 21: 298-303.
-
(2011)
Neuromuscul Disord
, vol.21
, pp. 298-303
-
-
Bianchi, M.L.1
Biggar, D.2
Bushby, K.3
Rogol, A.D.4
Rutter, M.M.5
Tseng, B.6
-
51
-
-
0037304994
-
107th ENMC international workshop: The management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands
-
Bushby K, Muntoni F, Bourke JP. 107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands. Neuromuscul Disord 2003; 13: 166-72.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 166-172
-
-
Bushby, K.1
Muntoni, F.2
Bourke, J.P.3
-
52
-
-
0028362849
-
Preventive nasal ventilation in Duchenne muscular dystrophy
-
Muntoni F, Hird M, Simonds AK. Preventive nasal ventilation in Duchenne muscular dystrophy. Lancet 1994; 344: 340.
-
(1994)
Lancet
, vol.344
, pp. 340
-
-
Muntoni, F.1
Hird, M.2
Simonds, A.K.3
-
53
-
-
26944453349
-
Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia
-
Ward S, Chatwin M, Heather S, Simonds AK. Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia. Thorax 2005; 60: 1019-24.
-
(2005)
Thorax
, vol.60
, pp. 1019-1024
-
-
Ward, S.1
Chatwin, M.2
Heather, S.3
Simonds, A.K.4
-
54
-
-
34547934811
-
Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up
-
Duboc D, Meune C, Pierre B, et al. Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up. Am Heart J 2007; 154: 596-602.
-
(2007)
Am Heart J
, vol.154
, pp. 596-602
-
-
Duboc, D.1
Meune, C.2
Pierre, B.3
-
55
-
-
14844318046
-
Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy
-
Duboc D, Meune C, Lerebours G, Devaux JY, Vaksmann G, Becane HM. Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy. J Am Coll Cardiol 2005; 45: 855-57.
-
(2005)
J Am Coll Cardiol
, vol.45
, pp. 855-857
-
-
Duboc, D.1
Meune, C.2
Lerebours, G.3
Devaux, J.Y.4
Vaksmann, G.5
Becane, H.M.6
-
56
-
-
30444446953
-
Primary prevention of sudden death in patients with lamin A/C gene mutations
-
Meune C, Van Berlo JH, Anselme F, Bonne G, Pinto YM, Duboc D. Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med 2006; 354: 209-10.
-
(2006)
N Engl J Med
, vol.354
, pp. 209-210
-
-
Meune, C.1
Van Berlo, J.H.2
Anselme, F.3
Bonne, G.4
Pinto, Y.M.5
Duboc, D.6
-
57
-
-
39849083410
-
'Unexpected' sudden death avoided by implantable cardioverter defibrillator in Emery Dreifuss patient
-
Golzio PG, Chiribiri A, Gaita F. 'Unexpected' sudden death avoided by implantable cardioverter defibrillator in Emery Dreifuss patient. Europace 2007; 9: 1158-60.
-
(2007)
Europace
, vol.9
, pp. 1158-1160
-
-
Golzio, P.G.1
Chiribiri, A.2
Gaita, F.3
-
58
-
-
41349096279
-
Sudden death in an Emery-Dreifuss muscular dystrophy patient with an implantable defibrillator
-
Zaim S, Bach J, Michaels J. Sudden death in an Emery-Dreifuss muscular dystrophy patient with an implantable defibrillator. Am J Phys Med Rehabil 2008; 87: 325-29.
-
(2008)
Am J Phys Med Rehabil
, vol.87
, pp. 325-329
-
-
Zaim, S.1
Bach, J.2
Michaels, J.3
-
59
-
-
84858069496
-
Bone mass development in patients with Duchenne and Becker muscular dystrophies: A 4-year clinical follow-up
-
Soderpalm AC, Magnusson P, Ahlander AC, et al. Bone mass development in patients with Duchenne and Becker muscular dystrophies: a 4-year clinical follow-up. Acta Paediatr 2012; 101: 424-32.
-
(2012)
Acta Paediatr
, vol.101
, pp. 424-432
-
-
Soderpalm, A.C.1
Magnusson, P.2
Ahlander, A.C.3
-
60
-
-
78651493402
-
Low bone density and bone metabolism alterations in Duchenne muscular dystrophy: Response to calcium and vitamin D treatment
-
Bianchi ML, Morandi L, Andreucci E, Vai S, Frasunkiewicz J, Cottafava R. Low bone density and bone metabolism alterations in Duchenne muscular dystrophy: response to calcium and vitamin D treatment. Osteoporos Int 2011; 22: 529-39.
-
(2011)
Osteoporos Int
, vol.22
, pp. 529-539
-
-
Bianchi, M.L.1
Morandi, L.2
Andreucci, E.3
Vai, S.4
Frasunkiewicz, J.5
Cottafava, R.6
-
61
-
-
0142055132
-
Bone mineral density and bone metabolism in Duchenne muscular dystrophy
-
Bianchi ML, Mazzanti A, Galbiati E, et al. Bone mineral density and bone metabolism in Duchenne muscular dystrophy. Osteoporos Int 2003; 14: 761-67.
-
(2003)
Osteoporos Int
, vol.14
, pp. 761-767
-
-
Bianchi, M.L.1
Mazzanti, A.2
Galbiati, E.3
-
62
-
-
15044356774
-
Bone health in duchenne muscular dystrophy: A workshop report from the meeting in Cincinnati, Ohio July 8, 2004
-
Biggar WD, Bachrach LK, Henderson RC, Kalkwarf H, Plotkin H, Wong BL. Bone health in Duchenne muscular dystrophy: a workshop report from the meeting in Cincinnati, Ohio, July 8, 2004. Neuromuscul Disord 2005; 15: 80-85.
-
(2005)
Neuromuscul Disord
, vol.15
, pp. 80-85
-
-
Biggar, W.D.1
Bachrach, L.K.2
Henderson, R.C.3
Kalkwarf, H.4
Plotkin, H.5
Wong, B.L.6
-
63
-
-
78650104585
-
Increased mortality with left ventricular systolic dysfunction and heart failure in adults with myotonic dystrophy type 1
-
1141.e1
-
Bhakta D, Groh MR, Shen C, Pascuzzi RM, Groh WJ. Increased mortality with left ventricular systolic dysfunction and heart failure in adults with myotonic dystrophy type 1. Am Heart J 2010; 160: 1137-41, 1141.e1.
-
(2010)
Am Heart J
, vol.160
, pp. 1137-1141
-
-
Bhakta, D.1
Groh, M.R.2
Shen, C.3
Pascuzzi, R.M.4
Groh, W.J.5
-
64
-
-
79960623467
-
Mechanisms inducing low bone density in Duchenne muscular dystrophy in mice and humans
-
Rufo A, Del Fattore A, Capulli M, et al. Mechanisms inducing low bone density in Duchenne muscular dystrophy in mice and humans. J Bone Miner Res 2011; 26: 1891-903.
-
(2011)
J Bone Miner Res
, vol.26
, pp. 1891-1903
-
-
Rufo, A.1
Del Fattore, A.2
Capulli, M.3
-
65
-
-
84860741378
-
Increased muscle expression of interleukin-17 in Duchenne muscular dystrophy
-
De Pasquale L, D'Amico A, Verardo M, Petrini S, Bertini E, De Benedetti F. Increased muscle expression of interleukin-17 in Duchenne muscular dystrophy. Neurology 2012; 78: 1309-14.
-
(2012)
Neurology
, vol.78
, pp. 1309-1314
-
-
De Pasquale, L.1
D'Amico, A.2
Verardo, M.3
Petrini, S.4
Bertini, E.5
De Benedetti, F.6
-
66
-
-
13444259605
-
Alendronate in the treatment of low bone mass in steroid-treated boys with Duchennes muscular dystrophy
-
Hawker GA, Ridout R, Harris VA, Chase CC, Fielding LJ, Biggar WD. Alendronate in the treatment of low bone mass in steroid-treated boys with Duchennes muscular dystrophy. Arch Phys Med Rehabil 2005; 86: 284-88.
-
(2005)
Arch Phys Med Rehabil
, vol.86
, pp. 284-288
-
-
Hawker, G.A.1
Ridout, R.2
Harris, V.A.3
Chase, C.C.4
Fielding, L.J.5
Biggar, W.D.6
-
67
-
-
79551545969
-
Impact of bisphosphonates on survival for patients with Duchenne muscular dystrophy
-
Gordon KE, Dooley JM, Sheppard KM, MacSween J, Esser MJ. Impact of bisphosphonates on survival for patients with Duchenne muscular dystrophy. Pediatrics 2011; 127: e353-58.
-
(2011)
Pediatrics
, vol.127
-
-
Gordon, K.E.1
Dooley, J.M.2
Sheppard, K.M.3
MacSween, J.4
Esser, M.J.5
-
68
-
-
67651146677
-
Bone: Use of bisphosphonates in children-proceed with caution
-
Marini JC. Bone: use of bisphosphonates in children-proceed with caution. Nat Rev Endocrinol 2009; 5: 241-43.
-
(2009)
Nat Rev Endocrinol
, vol.5
, pp. 241-243
-
-
Marini, J.C.1
-
69
-
-
77950960625
-
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations
-
Geranmayeh F, Clement E, Feng LH, et al. Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscul Disord 2010; 20: 241-50.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 241-250
-
-
Geranmayeh, F.1
Clement, E.2
Feng, L.H.3
-
70
-
-
79959642268
-
SEPN1-related myopathies: Clinical course in a large cohort of patients
-
Scoto M, Cirak S, Mein R, et al. SEPN1-related myopathies: clinical course in a large cohort of patients. Neurology 2011; 76: 2073-78.
-
(2011)
Neurology
, vol.76
, pp. 2073-2078
-
-
Scoto, M.1
Cirak, S.2
Mein, R.3
-
71
-
-
68249154901
-
Natural history of Ullrich congenital muscular dystrophy
-
Nadeau A, Kinali M, Main M, 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
-
72
-
-
77957329647
-
Facioscapulohumeral muscular dystrophy: A prospective study of weakness and functional impairment
-
Stubgen JP, Stipp A. Facioscapulohumeral muscular dystrophy: a prospective study of weakness and functional impairment. J Neurol 2010; 257: 1457-64.
-
(2010)
J Neurol
, vol.257
, pp. 1457-1464
-
-
Stubgen, J.P.1
Stipp, A.2
-
73
-
-
0031034093
-
A prospective, quantitative study of the natural history of facioscapulohumeral muscular dystrophy (FSHD): Implications for therapeutic trials
-
Group F-D. A prospective, quantitative study of the natural history of facioscapulohumeral muscular dystrophy (FSHD): implications for therapeutic trials. Neurology 1997; 48: 38-46.
-
(1997)
Neurology
, vol.48
, pp. 38-46
-
-
Group, F.-D.1
-
74
-
-
0030730609
-
Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients
-
Linssen WH, Notermans NC, Van der Graaf Y, et al. Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients. Brain 1997; 120 (pt 11): 1989-96.
-
(1997)
Brain
, vol.120
, Issue.PART 11
, pp. 1989-1996
-
-
Linssen, W.H.1
Notermans, N.C.2
Van Der Graaf, Y.3
-
75
-
-
77949457256
-
The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B)
-
Angelini C, Nardetto L, Borsato C, et al. The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B). Neurol Res 2010; 32: 41-46.
-
(2010)
Neurol Res
, vol.32
, pp. 41-46
-
-
Angelini, C.1
Nardetto, L.2
Borsato, C.3
-
76
-
-
0035144864
-
Dysferlinopathy (LGMD2B): A 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations
-
Mahjneh I, Marconi G, Bushby K, Anderson LV, Tolvanen-Mahjneh H, Somer H. Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations. Neuromuscul Disord 2001; 11: 20-26.
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 20-26
-
-
Mahjneh, I.1
Marconi, G.2
Bushby, K.3
Anderson, L.V.4
Tolvanen-Mahjneh, H.5
Somer, H.6
-
77
-
-
56649111213
-
157th ENMC international workshop: Patient registries for rare inherited muscular disorders 25-27 January 2008, Naarden, the Netherlands
-
Sarkozy A, Bushby K, Beroud C, Lochmuller H. 157th ENMC International Workshop: patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands. Neuromuscul Disord 2008; 18: 997-1001.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 997-1001
-
-
Sarkozy, A.1
Bushby, K.2
Beroud, C.3
Lochmuller, H.4
-
79
-
-
67650489602
-
Diagnosis and new treatments in muscular dystrophies
-
Manzur AY, Muntoni F. Diagnosis and new treatments in muscular dystrophies. J Neurol Neurosurg Psychiatry 2009; 80: 706-14.
-
(2009)
J Neurol Neurosurg Psychiatry
, vol.80
, pp. 706-714
-
-
Manzur, A.Y.1
Muntoni, F.2
-
80
-
-
19944427852
-
Practice parameter: Corticosteroid treatment of Duchenne dystrophy: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
-
Moxley RT 3rd, Ashwal S, Pandya S, et al. Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 2005; 64: 13-20.
-
(2005)
Neurology
, vol.64
, pp. 13-20
-
-
Moxley III, R.T.1
Ashwal, S.2
Pandya, S.3
-
81
-
-
84859641520
-
Transition to adulthood for young men with Duchenne muscular dystrophy: Research from the UK
-
Abbott D, Carpenter J, Bushby K. Transition to adulthood for young men with Duchenne muscular dystrophy: research from the UK. Neuromuscul Disord 2012; 22: 445-46.
-
(2012)
Neuromuscul Disord
, vol.22
, pp. 445-446
-
-
Abbott, D.1
Carpenter, J.2
Bushby, K.3
-
82
-
-
12344314856
-
Adult life with Duchenne muscular dystrophy: Observations among an emerging and unforeseen patient population
-
Rahbek J, Werge B, Madsen A, Marquardt J, Steffensen BF, Jeppesen J. Adult life with Duchenne muscular dystrophy: observations among an emerging and unforeseen patient population. Pediatr Rehabil 2005; 8: 17-28.
-
(2005)
Pediatr Rehabil
, vol.8
, pp. 17-28
-
-
Rahbek, J.1
Werge, B.2
Madsen, A.3
Marquardt, J.4
Steffensen, B.F.5
Jeppesen, J.6
-
83
-
-
78649668751
-
Cardiac assessment in Duchenne and Becker muscular dystrophies
-
Romfh A, McNally EM. Cardiac assessment in Duchenne and Becker muscular dystrophies. Curr Heart Fail Rep 2010; 7: 212-18.
-
(2010)
Curr Heart Fail Rep
, vol.7
, pp. 212-218
-
-
Romfh, A.1
McNally, E.M.2
-
84
-
-
0035912809
-
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
-
Camacho Vanegas O, Bertini E, Zhang RZ, 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
-
85
-
-
18344393598
-
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy
-
Demir E, Sabatelli P, Allamand V, et al. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet 2002; 70: 1446-58.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1446-1458
-
-
Demir, E.1
Sabatelli, P.2
Allamand, V.3
-
86
-
-
12744253752
-
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy
-
Baker NL, Morgelin M, Peat R, et al. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet 2005; 14: 279-93.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 279-293
-
-
Baker, N.L.1
Morgelin, M.2
Peat, R.3
-
87
-
-
33846477445
-
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins
-
Angelin A, Tiepolo T, Sabatelli P, et al. Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc Natl Acad Sci USA 2007; 104: 991-96.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 991-996
-
-
Angelin, A.1
Tiepolo, T.2
Sabatelli, P.3
-
88
-
-
10744233522
-
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency
-
Irwin WA, Bergamin N, Sabatelli P, et al. Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. Nat Genet 2003; 35: 367-71.
-
(2003)
Nat Genet
, vol.35
, pp. 367-371
-
-
Irwin, W.A.1
Bergamin, N.2
Sabatelli, P.3
-
89
-
-
65549104874
-
The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/-myopathic mice
-
Tiepolo T, Angelin A, Palma E, 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
-
90
-
-
78149319082
-
Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration
-
Grumati P, Coletto L, Sabatelli P, et al. Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration. Nat Med 2010; 16: 1313-20.
-
(2010)
Nat Med
, vol.16
, pp. 1313-1320
-
-
Grumati, P.1
Coletto, L.2
Sabatelli, P.3
-
92
-
-
0028980027
-
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
-
Helbling-Leclerc A, Zhang X, Topaloglu H, et al. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 1995; 11: 216-18.
-
(1995)
Nat Genet
, vol.11
, pp. 216-218
-
-
Helbling-Leclerc, A.1
Zhang, X.2
Topaloglu, H.3
-
93
-
-
0035921981
-
An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy
-
Moll J, Barzaghi P, Lin S, et al. An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy. Nature 2001; 413: 302-07.
-
(2001)
Nature
, vol.413
, pp. 302-307
-
-
Moll, J.1
Barzaghi, P.2
Lin, S.3
-
94
-
-
73349085584
-
Omigapil ameliorates the pathology of muscle dystrophy caused by laminin-alpha2 deficiency
-
Erb M, Meinen S, Barzaghi P, et al. Omigapil ameliorates the pathology of muscle dystrophy caused by laminin-alpha2 deficiency. J Pharmacol Exp Ther 2009; 331: 787-95.
-
(2009)
J Pharmacol Exp Ther
, vol.331
, pp. 787-795
-
-
Erb, M.1
Meinen, S.2
Barzaghi, P.3
-
95
-
-
80052472115
-
Muscular dystrophies due to glycosylation defects: Diagnosis and therapeutic strategies
-
Muntoni F, Torelli S, Wells DJ, Brown SC. Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies. Curr Opin Neurol 2010; 24: 437-42.
-
(2010)
Curr Opin Neurol
, vol.24
, pp. 437-442
-
-
Muntoni, F.1
Torelli, S.2
Wells, D.J.3
Brown, S.C.4
-
96
-
-
0037010428
-
Defective glycosylation in muscular dystrophy
-
Muntoni F, Brockington M, Blake DJ, Torelli S, Brown SC. Defective glycosylation in muscular dystrophy. Lancet 2002; 360: 1419-21.
-
(2002)
Lancet
, vol.360
, pp. 1419-1421
-
-
Muntoni, F.1
Brockington, M.2
Blake, D.J.3
Torelli, S.4
Brown, S.C.5
-
97
-
-
34848837334
-
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
-
Godfrey C, Clement E, Mein R, et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007; 130 (pt 10): 2725-35.
-
(2007)
Brain
, vol.130
, Issue.PART 10
, pp. 2725-2735
-
-
Godfrey, C.1
Clement, E.2
Mein, R.3
-
99
-
-
67649229495
-
Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study
-
Mercuri E, Messina S, Bruno C, et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology 2009; 72: 1802-09.
-
(2009)
Neurology
, vol.72
, pp. 1802-1809
-
-
Mercuri, E.1
Messina, S.2
Bruno, C.3
-
100
-
-
69949154343
-
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity
-
Jimenez-Mallebrera C, Torelli S, Feng L, et al. A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity. Brain Pathol 2009; 19: 596-611.
-
(2009)
Brain Pathol
, vol.19
, pp. 596-611
-
-
Jimenez-Mallebrera, C.1
Torelli, S.2
Feng, L.3
-
101
-
-
78650845413
-
Transgenic overexpression of LARGE induces alpha-dystroglycan hyperglycosylation in skeletal and cardiac muscle
-
Brockington M, Torelli S, Sharp PS, et al. Transgenic overexpression of LARGE induces alpha-dystroglycan hyperglycosylation in skeletal and cardiac muscle. PLoS One 2010; 5: e14434.
-
(2010)
PLoS One
, vol.5
-
-
Brockington, M.1
Torelli, S.2
Sharp, P.S.3
-
102
-
-
56949085969
-
Calpain 3 the "gatekeeper" of proper sarcomere assembly, turnover and maintenance
-
Beckmann JS, Spencer M. Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance. Neuromuscul Disord 2008; 18: 913-21.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 913-921
-
-
Beckmann, J.S.1
Spencer, M.2
-
103
-
-
54449100812
-
Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle
-
Kramerova I, Kudryashova E, Wu B, Ottenheijm C, Granzier H, Spencer MJ. Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle. Hum Mol Genet 2008; 17: 3271-80.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 3271-3280
-
-
Kramerova, I.1
Kudryashova, E.2
Wu, B.3
Ottenheijm, C.4
Granzier, H.5
Spencer, M.J.6
-
104
-
-
44849138794
-
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle
-
Huang Y, de Morree A, van Remoortere A, et al. Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. Hum Mol Genet 2008; 17: 1855-66.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 1855-1866
-
-
Huang, Y.1
De Morree, A.2
Van Remoortere, A.3
-
105
-
-
84863992929
-
Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3
-
Kramerova I, Kudryashova E, Ermolova N, et al. Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3. Hum Mol Genet 2012; 21: 3193-204.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 3193-3204
-
-
Kramerova, I.1
Kudryashova, E.2
Ermolova, N.3
-
106
-
-
34447559663
-
Metabolic and signaling alterations in dystrophin-deficient hearts precede overt cardiomyopathy
-
Khairallah M, Khairallah R, Young ME, Dyck JR, Petrof BJ, Des Rosiers C. Metabolic and signaling alterations in dystrophin-deficient hearts precede overt cardiomyopathy. J Mol Cell Cardiol 2007; 43: 119-29.
-
(2007)
J Mol Cell Cardiol
, vol.43
, pp. 119-129
-
-
Khairallah, M.1
Khairallah, R.2
Young, M.E.3
Dyck, J.R.4
Petrof, B.J.5
Des Rosiers, C.6
-
107
-
-
84862176451
-
Muscle membrane repair and inflammatory attack in dysferlinopathy
-
Han R. Muscle membrane repair and inflammatory attack in dysferlinopathy. Skelet Muscle 2011; 1: 10.
-
(2011)
Skelet Muscle
, vol.1
, pp. 10
-
-
Han, R.1
-
108
-
-
78149284770
-
A new role for the muscle repair protein dysferlin in endothelial cell adhesion and angiogenesis
-
Sharma A, Yu C, Leung C, et al. A new role for the muscle repair protein dysferlin in endothelial cell adhesion and angiogenesis. Arterioscler Thromb Vasc Biol 2010; 30: 2196-204.
-
(2010)
Arterioscler Thromb Vasc Biol
, vol.30
, pp. 2196-2204
-
-
Sharma, A.1
Yu, C.2
Leung, C.3
-
109
-
-
34548009359
-
Dysferlin and muscle membrane repair
-
Han R, Campbell KP. Dysferlin and muscle membrane repair. Curr Opin Cell Biol 2007; 19: 409-16.
-
(2007)
Curr Opin Cell Biol
, vol.19
, pp. 409-416
-
-
Han, R.1
Campbell, K.P.2
-
110
-
-
77953030166
-
Lipodystrophy and muscular dystrophy caused by PTRF mutations
-
de Haan W. Lipodystrophy and muscular dystrophy caused by PTRF mutations. Clin Genet 2010; 77: 436-37.
-
(2010)
Clin Genet
, vol.77
, pp. 436-437
-
-
De Haan, W.1
-
111
-
-
70349195987
-
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy
-
Hayashi YK, Matsuda C, Ogawa M, et al. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. J Clin Invest 2009; 119: 2623-33.
-
(2009)
J Clin Invest
, vol.119
, pp. 2623-2633
-
-
Hayashi, Y.K.1
Matsuda, C.2
Ogawa, M.3
-
112
-
-
76249096210
-
Recessive mutations in the putative calcium-activated chloride channel anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies
-
Bolduc V, Marlow G, Boycott KM, 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: 213-21.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 213-221
-
-
Bolduc, V.1
Marlow, G.2
Boycott, K.M.3
-
113
-
-
78650687723
-
A founder mutation in anoctamin 5 is a major cause of limb-girdle muscular dystrophy
-
Hicks D, Sarkozy A, Muelas N, et al. A founder mutation in anoctamin 5 is a major cause of limb-girdle muscular dystrophy. Brain 2011; 134 (pt 1): 171-82.
-
(2011)
Brain
, vol.134
, Issue.PART 1
, pp. 171-182
-
-
Hicks, D.1
Sarkozy, A.2
Muelas, N.3
-
114
-
-
34648854432
-
Genetic treatments in muscular dystrophies
-
Muntoni F, Wells D. Genetic treatments in muscular dystrophies. Curr Opin Neurol 2007; 20: 590-94.
-
(2007)
Curr Opin Neurol
, vol.20
, pp. 590-594
-
-
Muntoni, F.1
Wells, D.2
-
115
-
-
77958065739
-
A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy
-
Krahn M, Wein N, Bartoli M, et al. A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy. Sci Transl Med 2010; 2: 50ra69.
-
(2010)
Sci Transl Med
, vol.2
-
-
Krahn, M.1
Wein, N.2
Bartoli, M.3
-
116
-
-
78650903850
-
Gene therapy of mdx mice with large truncated dystrophins generated by recombination using rAAV6
-
Odom GL, Gregorevic P, Allen JM, Chamberlain JS. Gene therapy of mdx mice with large truncated dystrophins generated by recombination using rAAV6. Mol Ther 19: 36-45.
-
Mol Ther
, vol.19
, pp. 36-45
-
-
Odom, G.L.1
Gregorevic, P.2
Allen, J.M.3
Chamberlain, J.S.4
-
117
-
-
84862907349
-
Recombinant MG53 protein modulates therapeutic cell membrane repair in treatment of muscular dystrophy
-
Weisleder N, Takizawa N, Lin P, et al. Recombinant MG53 protein modulates therapeutic cell membrane repair in treatment of muscular dystrophy. Sci Transl Med 2012; 4: 139ra85.
-
(2012)
Sci Transl Med
, vol.4
-
-
Weisleder, N.1
Takizawa, N.2
Lin, P.3
-
118
-
-
77953587163
-
Mitsugumin 53 (MG53) facilitates vesicle trafficking in striated muscle to contribute to cell membrane repair
-
Weisleder N, Takeshima H, Ma J. Mitsugumin 53 (MG53) facilitates vesicle trafficking in striated muscle to contribute to cell membrane repair. Commun Integr Biol 2009; 2: 225-26.
-
(2009)
Commun Integr Biol
, vol.2
, pp. 225-226
-
-
Weisleder, N.1
Takeshima, H.2
Ma, J.3
-
119
-
-
67650133653
-
Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin
-
Cai C, Weisleder N, Ko JK, et al. Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. J Biol Chem 2009; 284: 15894-902.
-
(2009)
J Biol Chem
, vol.284
, pp. 15894-15902
-
-
Cai, C.1
Weisleder, N.2
Ko, J.K.3
-
120
-
-
84874753450
-
Leaky ryanodine receptors in beta-sarcoglycan deficient mice: A potential common defect in muscular dystrophy
-
Andersson DC, Meli AC, Reiken S, et al. Leaky ryanodine receptors in beta-sarcoglycan deficient mice: a potential common defect in muscular dystrophy. Skelet Muscle 2012; 2: 9.
-
(2012)
Skelet Muscle
, vol.2
, pp. 9
-
-
Andersson, D.C.1
Meli, A.C.2
Reiken, S.3
-
121
-
-
61949338001
-
Hypernitrosylated ryanodine receptor calcium release channels are leaky in dystrophic muscle
-
Bellinger AM, Reiken S, Carlson C, et al. Hypernitrosylated ryanodine receptor calcium release channels are leaky in dystrophic muscle. Nat Med 2009; 15: 325-30.
-
(2009)
Nat Med
, vol.15
, pp. 325-330
-
-
Bellinger, A.M.1
Reiken, S.2
Carlson, C.3
-
122
-
-
80054779433
-
Drug discovery for Duchenne muscular dystrophy via utrophin promoter activation screening
-
Moorwood C, Lozynska O, Suri N, Napper AD, Diamond SL, Khurana TS. Drug discovery for Duchenne muscular dystrophy via utrophin promoter activation screening. PLoS One 2011; 6: e26169.
-
(2011)
PLoS One
, vol.6
-
-
Moorwood, C.1
Lozynska, O.2
Suri, N.3
Napper, A.D.4
Diamond, S.L.5
Khurana, T.S.6
-
123
-
-
79955867741
-
Daily treatment with SMTC1100, a novel small molecule utrophin upregulator, dramatically reduces the dystrophic symptoms in the mdx mouse
-
Tinsley JM, Fairclough RJ, Storer R, et al. Daily treatment with SMTC1100, a novel small molecule utrophin upregulator, dramatically reduces the dystrophic symptoms in the mdx mouse. PLoS One 2011; 6: e19189.
-
(2011)
PLoS One
, vol.6
-
-
Tinsley, J.M.1
Fairclough, R.J.2
Storer, R.3
-
124
-
-
79960981599
-
Targeting RNA to treat neuromuscular disease
-
Muntoni F, Wood MJ. Targeting RNA to treat neuromuscular disease. Nat Rev Drug Discov 2011; 10: 621-37.
-
(2011)
Nat Rev Drug Discov
, vol.10
, pp. 621-637
-
-
Muntoni, F.1
Wood, M.J.2
-
125
-
-
84859867996
-
Overview on DMD exon skipping
-
Aartsma-Rus A. Overview on DMD exon skipping. Methods Mol Biol 2012; 867: 97-116.
-
(2012)
Methods Mol Biol
, vol.867
, pp. 97-116
-
-
Aartsma-Rus, A.1
-
126
-
-
77957322170
-
Antisense-mediated modulation of splicing: Therapeutic implications for Duchenne muscular dystrophy
-
Aartsma-Rus A. Antisense-mediated modulation of splicing: therapeutic implications for Duchenne muscular dystrophy. RNA Biol 2010; 7: 453-61.
-
(2010)
RNA Biol
, vol.7
, pp. 453-461
-
-
Aartsma-Rus, A.1
-
127
-
-
37549034298
-
Local dystrophin restoration with antisense oligonucleotide PRO051
-
van Deutekom JC, Janson AA, Ginjaar IB, et al. Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med 2007; 357: 2677-86.
-
(2007)
N Engl J Med
, vol.357
, pp. 2677-2686
-
-
Van Deutekom, J.C.1
Janson, A.A.2
Ginjaar, I.B.3
-
128
-
-
80051690306
-
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: An open-label, phase 2, dose-escalation study
-
Cirak S, Arechavala-Gomeza V, Guglieri M, et al. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. Lancet 2011; 378: 595-605.
-
(2011)
Lancet
, vol.378
, pp. 595-605
-
-
Cirak, S.1
Arechavala-Gomeza, V.2
Guglieri, M.3
-
129
-
-
69949107887
-
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: A single-blind, placebo-controlled, dose-escalation, proof-of-concept study
-
Kinali M, Arechavala-Gomeza V, Feng L, et al. Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol 2009; 8: 918-28.
-
(2009)
Lancet Neurol
, vol.8
, pp. 918-928
-
-
Kinali, M.1
Arechavala-Gomeza, V.2
Feng, L.3
-
130
-
-
79955158683
-
Systemic administration of PRO051 in Duchenne's muscular dystrophy
-
Goemans NM, Tulinius M, van den Akker JT, et al. Systemic administration of PRO051 in Duchenne's muscular dystrophy. N Engl J Med 2011; 364: 1513-22.
-
(2011)
N Engl J Med
, vol.364
, pp. 1513-1522
-
-
Goemans, N.M.1
Tulinius, M.2
Van Den Akker, J.T.3
-
131
-
-
84858405200
-
Splice modulating therapies for human disease
-
Spitali P, Aartsma-Rus A. Splice modulating therapies for human disease. Cell 2012; 148: 1085-88.
-
(2012)
Cell
, vol.148
, pp. 1085-1088
-
-
Spitali, P.1
Aartsma-Rus, A.2
-
132
-
-
75149170176
-
Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping
-
Wein N, Avril A, Bartoli M, et al. Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping. Hum Mutat 2010; 31: 136-42.
-
(2010)
Hum Mutat
, vol.31
, pp. 136-142
-
-
Wein, N.1
Avril, A.2
Bartoli, M.3
-
133
-
-
0013936856
-
Unusual type of benign x-linked muscular dystrophy
-
Emery AEH, Dreifuss FE. Unusual type of benign x-linked muscular dystrophy. J Neurol Neurosurg Psychiatr 1966; 29: 338-42.
-
(1966)
J Neurol Neurosurg Psychiatr
, vol.29
, pp. 338-342
-
-
Aeh, E.1
Dreifuss, F.E.2
-
134
-
-
79551493692
-
Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy
-
Foley AR, Hu Y, Zou Y, et al. Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. Ann Neurol 2011; 69: 206-11.
-
(2011)
Ann Neurol
, vol.69
, pp. 206-211
-
-
Foley, A.R.1
Hu, Y.2
Zou, Y.3
-
135
-
-
84856005825
-
Distal myopathies-new genetic entities expand diagnostic challenge
-
Udd B. Distal myopathies-new genetic entities expand diagnostic challenge. Neuromuscul Disord 2012; 22: 5-12.
-
(2012)
Neuromuscul Disord
, vol.22
, pp. 5-12
-
-
Udd, B.1
-
136
-
-
79954523736
-
Distal muscular dystrophies
-
Udd B. Distal muscular dystrophies. Handb Clin Neurol 2011; 101: 239-62.
-
(2011)
Handb Clin Neurol
, vol.101
, pp. 239-262
-
-
Udd, B.1
-
137
-
-
0035144844
-
Autosomal dominant distal myopathy: Further evidence of a chromosome 14 locus
-
Voit T, Kutz P, Leube B, et al. Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus. Neuromuscul Disord 2001; 11: 11-19.
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 11-19
-
-
Voit, T.1
Kutz, P.2
Leube, B.3
-
138
-
-
84861184354
-
A novel titin mutation in adult-onset familial dilated cardiomyopathy
-
Yoskovitz G, Peled Y, Gramlich M, et al. A novel titin mutation in adult-onset familial dilated cardiomyopathy. Am J Cardiol 2012; 109: 1644-50.
-
(2012)
Am J Cardiol
, vol.109
, pp. 1644-1650
-
-
Yoskovitz, G.1
Peled, Y.2
Gramlich, M.3
-
139
-
-
36749026295
-
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1
-
Dixit M, Ansseau E, Tassin A, et al. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci USA 2007; 104: 18157-62.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 18157-18162
-
-
Dixit, M.1
Ansseau, E.2
Tassin, A.3
-
140
-
-
54349088194
-
An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies
-
Bosnakovski D, Xu Z, Gang EJ, et al. An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies. EMBO J 2008; 27: 2766-79.
-
(2008)
EMBO J
, vol.27
, pp. 2766-2779
-
-
Bosnakovski, D.1
Xu, Z.2
Gang, E.J.3
-
141
-
-
84863450530
-
RNA interference inhibits DUX4-induced muscle toxicity in vivo: Implications for a targeted FSHD therapy
-
Wallace LM, Liu J, Domire JS, et al. RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy. Mol Ther 2012; 20: 1417-23.
-
(2012)
Mol Ther
, vol.20
, pp. 1417-1423
-
-
Wallace, L.M.1
Liu, J.2
Domire, J.S.3
|