-
2
-
-
0035822294
-
Lesson of the week: Late diagnosis of Duchenne's muscular dystrophy presenting as global developmental delay
-
Essex C, Roper H. Lesson of the week: late diagnosis of Duchenne's muscular dystrophy presenting as global developmental delay. BMJ 2001;323:37-8.
-
(2001)
BMJ
, vol.323
, pp. 37-38
-
-
Essex, C.1
Roper, H.2
-
3
-
-
55349084415
-
Update on the management of Duchenne muscular dystrophy
-
Manzur AY, Kinali M, Muntoni F. Update on the management of Duchenne muscular dystrophy. Arch Dis Child 2008;93:986-90.
-
(2008)
Arch Dis Child
, vol.93
, pp. 986-990
-
-
Manzur, A.Y.1
Kinali, M.2
Muntoni, F.3
-
4
-
-
0344420060
-
Dystrophin and mutations: One gene, several proteins, multiple phenotypes
-
Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2003;2:731-40.
-
(2003)
Lancet Neurol
, vol.2
, pp. 731-740
-
-
Muntoni, F.1
Torelli, S.2
Ferlini, A.3
-
5
-
-
0024245082
-
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
-
Chamberlain JS, Gibbs RA, Ranier JE, et al. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 1988;16:11141-56.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 11141-11156
-
-
Chamberlain, J.S.1
Gibbs, R.A.2
Ranier, J.E.3
-
6
-
-
11444268506
-
Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method
-
Schwartz M, Duno M. Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method. Genet Test 2004;8:361-7.
-
(2004)
Genet Test
, vol.8
, pp. 361-367
-
-
Schwartz, M.1
Duno, M.2
-
7
-
-
37249091118
-
Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene
-
Ashton EJ, Yau SC, Deans ZC, et al. Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene. Eur J Hum Genet 2008;16:53-61.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 53-61
-
-
Ashton, E.J.1
Yau, S.C.2
Deans, Z.C.3
-
9
-
-
0036892288
-
Report on the muscular dystrophy campaign workshop: Exercise in neuromuscular diseases Newcastle, January 2002
-
Eagle M. Report on the muscular dystrophy campaign workshop: exercise in neuromuscular diseases Newcastle, January 2002. Neuromuscul Disord 2002;12:975-83.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 975-983
-
-
Eagle, M.1
-
10
-
-
0023768755
-
Prevention of rapidly progressive scoliosis in Duchenne muscular dystrophy by prolongation of walking with orthoses
-
Rodillo EB, Fernandez-Bermejo E, Heckmatt JZ, et al. Prevention of rapidly progressive scoliosis in Duchenne muscular dystrophy by prolongation of walking with orthoses. J Child Neurol 1988;3:269-74.
-
(1988)
J Child Neurol
, vol.3
, pp. 269-274
-
-
Rodillo, E.B.1
Fernandez-Bermejo, E.2
Heckmatt, J.Z.3
-
11
-
-
41749096186
-
Glucocorticoid corticosteroids for Duchenne muscular dystrophy
-
CD003725
-
Manzur AY, Kuntzer T, Pike M, et al. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane Database Syst Rev 2008;(1):CD003725.
-
(2008)
Cochrane Database Syst Rev
, Issue.1
-
-
Manzur, A.Y.1
Kuntzer, T.2
Pike, M.3
-
12
-
-
33646478253
-
Long-term benefits of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade
-
Biggar WD, Harris VA, Eliasoph L, et al. Long-term benefits of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade. Neuromuscul Disord 2006;16:249-55.
-
(2006)
Neuromuscul Disord
, vol.16
, pp. 249-255
-
-
Biggar, W.D.1
Harris, V.A.2
Eliasoph, L.3
-
13
-
-
34248201124
-
Orthopedic outcomes of long-term daily corticosteroid treatment in Duchenne muscular dystrophy
-
King WM, et al. Orthopedic outcomes of long-term daily corticosteroid treatment in Duchenne muscular dystrophy. Neurology 2007;68:1607-13.
-
(2007)
Neurology
, vol.68
, pp. 1607-1613
-
-
King, W.M.1
-
14
-
-
12144263634
-
Intermittent prednisone therapy in Duchenne muscular dystrophy: A randomized controlled trial
-
Beenakker EA, et al. Intermittent prednisone therapy in Duchenne muscular dystrophy: a randomized controlled trial. Arch Neurol 2005;62:128-32.
-
(2005)
Arch Neurol
, vol.62
, pp. 128-132
-
-
Beenakker, E.A.1
-
15
-
-
4344588135
-
Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids. 2-4 April 2004, Naarden, The Netherlands
-
Bushby K, Muntoni F, Urtizberea A, et al. Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids. 2-4 April 2004, Naarden, The Netherlands. Neuromuscul Disord 2004;14:526-34.
-
(2004)
Neuromuscul Disord
, vol.14
, pp. 526-534
-
-
Bushby, K.1
Muntoni, F.2
Urtizberea, A.3
-
16
-
-
15044360059
-
-
Quinlivan R, et al. Report of a Muscular Dystrophy Campaign funded workshop Birmingham, UK, January 16th 2004. Osteoporosis in Duchenne muscular dystrophy; its prevalence, treatment and prevention. Neuromuscul Disord 2005;15:72-9.
-
Quinlivan R, et al. Report of a Muscular Dystrophy Campaign funded workshop Birmingham, UK, January 16th 2004. Osteoporosis in Duchenne muscular dystrophy; its prevalence, treatment and prevention. Neuromuscul Disord 2005;15:72-9.
-
-
-
-
18
-
-
0031759227
-
Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy
-
Simonds AK, Muntoni F, Heather S, et al. Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy. Thorax 1998;53:949-52.
-
(1998)
Thorax
, vol.53
, pp. 949-952
-
-
Simonds, A.K.1
Muntoni, F.2
Heather, S.3
-
19
-
-
34249099687
-
Managing Duchenne muscular dystrophy-the additive effect of spinal surgery and home nocturnal ventilation in improving survival
-
Eagle M, et al. Managing Duchenne muscular dystrophy-the additive effect of spinal surgery and home nocturnal ventilation in improving survival. Neuromuscul Disord 2007;17:470-5.
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 470-475
-
-
Eagle, M.1
-
20
-
-
0028156728
-
Noninvasive positive pressure ventilation in neuromuscular disease. Enough is enough!
-
Hill NS. Noninvasive positive pressure ventilation in neuromuscular disease. Enough is enough! Chest 1994;105:337-8.
-
(1994)
Chest
, vol.105
, pp. 337-338
-
-
Hill, N.S.1
-
21
-
-
33847164577
-
Lung function accurately predicts hypercapnia in patients with Duchenne muscular dystrophy
-
Toussaint M, Steens M, Soudon P. Lung function accurately predicts hypercapnia in patients with Duchenne muscular dystrophy. Chest 2007;131:368-75.
-
(2007)
Chest
, vol.131
, pp. 368-375
-
-
Toussaint, M.1
Steens, M.2
Soudon, P.3
-
22
-
-
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, et al. 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
-
23
-
-
33645744358
-
Cardiac monitoring and treatment for children and adolescents with neuromuscular disorders
-
English KM, Gibbs JL. Cardiac monitoring and treatment for children and adolescents with neuromuscular disorders. Dev Med Child Neurol 2006;48:231-5.
-
(2006)
Dev Med Child Neurol
, vol.48
, pp. 231-235
-
-
English, K.M.1
Gibbs, J.L.2
-
24
-
-
34547934811
-
Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up
-
Duboc D, 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
-
25
-
-
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
-
26
-
-
33644986339
-
Muscular Dystrophy Campaign Funded Workshop on Management of Scoliosis in Duchenne Muscular Dystrophy, 24 January 2005. London
-
Muntoni F, Bushby K, Manzur AY. Muscular Dystrophy Campaign Funded Workshop on Management of Scoliosis in Duchenne Muscular Dystrophy, 24 January 2005. London: Neuromuscul Disord 2006;16:210-19.
-
(2006)
Neuromuscul Disord
, vol.16
, pp. 210-219
-
-
Muntoni, F.1
Bushby, K.2
Manzur, A.Y.3
-
27
-
-
0242572130
-
Spinal fusion in patients with Duchenne's muscular dystrophy and a low forced vital capacity
-
Marsh A, Edge G, Lehovsky J. Spinal fusion in patients with Duchenne's muscular dystrophy and a low forced vital capacity. Eur Spine J 2003;12:507-12.
-
(2003)
Eur Spine J
, vol.12
, pp. 507-512
-
-
Marsh, A.1
Edge, G.2
Lehovsky, J.3
-
28
-
-
33751320375
-
Feeding problems and weight gain in Duchenne muscular dystrophy
-
Pane M, et al. Feeding problems and weight gain in Duchenne muscular dystrophy. Eur J Paediatr Neurol 2006;10:231-6.
-
(2006)
Eur J Paediatr Neurol
, vol.10
, pp. 231-236
-
-
Pane, M.1
-
30
-
-
56949103746
-
The lifeline: The parent experience of caring for a child with neuromuscular disease on home mechanical ventilation
-
Maha JK, Thannhauser JE, McNeilBeing DA, et al. The lifeline: The parent experience of caring for a child with neuromuscular disease on home mechanical ventilation. Neuromuscul Disord 2008;18:983-8.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 983-988
-
-
Maha, J.K.1
Thannhauser, J.E.2
McNeilBeing, D.A.3
-
31
-
-
27644477969
-
Analysis of an adult Duchenne muscular dystrophy population
-
Parker AE, et al. Analysis of an adult Duchenne muscular dystrophy population. QJM 2005;98:729-36.
-
(2005)
QJM
, vol.98
, pp. 729-736
-
-
Parker, A.E.1
-
32
-
-
46449110192
-
Symptomatic nephrolithiasis in prolonged survivors of Duchenne muscular dystrophy
-
Shumyatcher Y, Shah TA, Noritz GA, et al. Symptomatic nephrolithiasis in prolonged survivors of Duchenne muscular dystrophy. Neuromuscul Disord 2008;18:561-4.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 561-564
-
-
Shumyatcher, Y.1
Shah, T.A.2
Noritz, G.A.3
-
33
-
-
33748316668
-
Therapeutic restoration of dystrophin expression in Duchenne muscular dystrophy
-
Wells DJ. Therapeutic restoration of dystrophin expression in Duchenne muscular dystrophy. J Muscle Res Cell Motil 2006;27:387- 98.
-
(2006)
J Muscle Res Cell Motil
, vol.27
, pp. 387-398
-
-
Wells, D.J.1
-
34
-
-
32244443828
-
Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology
-
Alter J, et al. Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology. Nat Med 2006;12:175-7.
-
(2006)
Nat Med
, vol.12
, pp. 175-177
-
-
Alter, J.1
-
35
-
-
37549034298
-
Local dystrophin restoration with antisense oligonucleotide PRO051
-
van Deutekom JC, Janson AA, Ginjaar IB, et al. Local dystrophin restoration with antisense oligonucleotide PRO051. New Engl J Med 2007;357:2677-86.
-
(2007)
New Engl J Med
, vol.357
, pp. 2677-2686
-
-
van Deutekom, J.C.1
Janson, A.A.2
Ginjaar, I.B.3
-
36
-
-
38449087274
-
PTC124, nonsense mutations and Duchenne muscular dystrophy
-
Wilton S. PTC124, nonsense mutations and Duchenne muscular dystrophy. Neuromuscul Disord 2007;17:719-20.
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 719-720
-
-
Wilton, S.1
-
37
-
-
0032720705
-
Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice
-
Barton-Davis ER, Cordier L, Shoturma DI, et al. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest 1999;104:375-81.
-
(1999)
J Clin Invest
, vol.104
, pp. 375-381
-
-
Barton-Davis, E.R.1
Cordier, L.2
Shoturma, D.I.3
-
38
-
-
0034982292
-
Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations
-
Wagner KR, Hamed S, Hadley DW, et al. Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Ann Neurol 2001;49:706-11.
-
(2001)
Ann Neurol
, vol.49
, pp. 706-711
-
-
Wagner, K.R.1
Hamed, S.2
Hadley, D.W.3
-
39
-
-
33947529670
-
Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers
-
Hirawat S, Welch EM, Elfring GL, et al. Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers. J Clin Pharmacol 2007;47:430-44.
-
(2007)
J Clin Pharmacol
, vol.47
, pp. 430-444
-
-
Hirawat, S.1
Welch, E.M.2
Elfring, G.L.3
-
40
-
-
0025998134
-
Population frequencies of inherited neuromuscular diseases: A world survey
-
Emery AEH. Population frequencies of inherited neuromuscular diseases: a world survey. Neuromuscul Disord 1991;1:19-29.
-
(1991)
Neuromuscul Disord
, vol.1
, pp. 19-29
-
-
Emery, A.E.H.1
-
41
-
-
8044224015
-
Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy
-
Melacini P, Fanin M, Danieli GA, et al. Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy. Circulation 1996;94:3168-75.
-
(1996)
Circulation
, vol.94
, pp. 3168-3175
-
-
Melacini, P.1
Fanin, M.2
Danieli, G.A.3
-
42
-
-
0031908133
-
-
Shoji1 T, Nishikawa Y2, Saito1 N, et al. A case of Becker muscular dystrophy and massive myoglobinuria with minimal renal manifestations. Nephrol Dial Transplant 1998;13:759-60.
-
Shoji1 T, Nishikawa Y2, Saito1 N, et al. A case of Becker muscular dystrophy and massive myoglobinuria with minimal renal manifestations. Nephrol Dial Transplant 1998;13:759-60.
-
-
-
-
43
-
-
37749041384
-
Duchenne muscular dystrophy: An old anesthesia problem revisited
-
Hayes J, Veckemans F, Bissonette B. Duchenne muscular dystrophy: an old anesthesia problem revisited. Pediatric Anesthesia 2008;18:100-6.
-
(2008)
Pediatric Anesthesia
, vol.18
, pp. 100-106
-
-
Hayes, J.1
Veckemans, F.2
Bissonette, B.3
-
44
-
-
42949155147
-
Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule
-
Kesari A, Pirra LN, Bremadesam L, et al. Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule. Hum Mutat 2008;29:728-37.
-
(2008)
Hum Mutat
, vol.29
, pp. 728-737
-
-
Kesari, A.1
Pirra, L.N.2
Bremadesam, L.3
-
45
-
-
38349174487
-
Cognitive and psychological profile of males with Becker muscular dystrophy
-
Young KH, Barton BA, Waisbren S, et al. Cognitive and psychological profile of males with Becker muscular dystrophy. J Child Neurol 2008;23:155.
-
(2008)
J Child Neurol
, vol.23
, pp. 155
-
-
Young, K.H.1
Barton, B.A.2
Waisbren, S.3
-
46
-
-
0033583984
-
Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: A cohort study
-
Hoogerwaard EM, Bakker E, Ippel PF, et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet 1999 19;353:2116-19.
-
(1999)
Lancet
, vol.19
, Issue.353
, pp. 2116-2119
-
-
Hoogerwaard, E.M.1
Bakker, E.2
Ippel, P.F.3
-
47
-
-
33645746833
-
Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy
-
Hoogerwaard EM, Ginjaar IB, Bakker E, et al. Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy. Neurology 2005;65:1984-6.
-
(2005)
Neurology
, vol.65
, pp. 1984-1986
-
-
Hoogerwaard, E.M.1
Ginjaar, I.B.2
Bakker, E.3
-
48
-
-
0032431669
-
What's in a name? Muscular dystrophy revisited
-
Dubowitz V. What's in a name? Muscular dystrophy revisited. Eur J Paediatr Neurol 1998;2:279-84.
-
(1998)
Eur J Paediatr Neurol
, vol.2
, pp. 279-284
-
-
Dubowitz, V.1
-
49
-
-
3142717832
-
Limb-girdle muscular dystrophies-from genetics to molecular pathology
-
Laval SH, Bushby KM. Limb-girdle muscular dystrophies-from genetics to molecular pathology. Neuropathol Appl Neurobiol 2004;30:91-105.
-
(2004)
Neuropathol Appl Neurobiol
, vol.30
, pp. 91-105
-
-
Laval, S.H.1
Bushby, K.M.2
-
50
-
-
33750070428
-
The genetic and molecular basis of muscular dystrophy: Roles of cell-matrix linkage in the pathogenesis
-
Kanagawa M, Toda T. The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis. J Hum Genet 2006;51:915-26.
-
(2006)
J Hum Genet
, vol.51
, pp. 915-926
-
-
Kanagawa, M.1
Toda, T.2
-
52
-
-
36249024105
-
EFNS Guideline Task Force. EFNS guideline on diagnosis and management of limb girdle muscular dystrophies
-
Norwood F, de Visser M, Eymard B, et al. EFNS Guideline Task Force. EFNS guideline on diagnosis and management of limb girdle muscular dystrophies. Eur J Neurol 2007;14:1305-12.
-
(2007)
Eur J Neurol
, vol.14
, pp. 1305-1312
-
-
Norwood, F.1
de Visser, M.2
Eymard, B.3
-
53
-
-
56049115820
-
How to go about diagnosing and managing the limb-girdle muscular dystrophies
-
Guglieri M, Bushby K. How to go about diagnosing and managing the limb-girdle muscular dystrophies. Neurol India 2008;56:271-80.
-
(2008)
Neurol India
, vol.56
, pp. 271-280
-
-
Guglieri, M.1
Bushby, K.2
-
54
-
-
38749153262
-
Limb-girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis
-
Lo HP, Cooper ST, Evesson FJ, et al. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscul Disord 2008;18:34-44.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 34-44
-
-
Lo, H.P.1
Cooper, S.T.2
Evesson, F.J.3
-
55
-
-
0033865686
-
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. 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. 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
-
56
-
-
33846837612
-
Muscle MRI in inherited neuromuscular disorders: Past, present, and future
-
Mercuri E, Pichiecchio A, Allsop J, et al. 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
-
57
-
-
0036133136
-
Myopathy with lobulated muscle fibers: Evidence for heterogeneous etiology and clinical presentation
-
Figarella-Branger D, El-Dassouki M, Saenz A. Myopathy with lobulated muscle fibers: evidence for heterogeneous etiology and clinical presentation. Neuromuscul Disord 2002;12:4-12.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 4-12
-
-
Figarella-Branger, D.1
El-Dassouki, M.2
Saenz, A.3
-
58
-
-
51549115452
-
De Novo LMNA mutations cause a new form of congenital muscular dystrophy
-
Quijano-Roy S, Mbieleu B, Bönnemann CG, et al. De Novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol 2008;64:177-86.
-
(2008)
Ann Neurol
, vol.64
, pp. 177-186
-
-
Quijano-Roy, S.1
Mbieleu, B.2
Bönnemann, C.G.3
-
60
-
-
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
-
61
-
-
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
-
62
-
-
24944464625
-
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes
-
Piluso G, Politano L, Aurino S, et al. Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. J Med Genet 2005;42:686-93.
-
(2005)
J Med Genet
, vol.42
, pp. 686-693
-
-
Piluso, G.1
Politano, L.2
Aurino, S.3
-
63
-
-
33847232234
-
A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay
-
Milic A, Daniele N, Lochmüller H, et al. A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay. Neuromuscul Disord 2007;17:148-56.
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 148-156
-
-
Milic, A.1
Daniele, N.2
Lochmüller, H.3
-
64
-
-
34547882325
-
Phenotypic study in 40 patients with dysferlin gene mutations: High frequency of atypical phenotypes
-
Nguyen K, Bassez G, Krahn M. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol 2007;64:1176-82.
-
(2007)
Arch Neurol
, vol.64
, pp. 1176-1182
-
-
Nguyen, K.1
Bassez, G.2
Krahn, M.3
-
65
-
-
67650394575
-
Analysis of the DYSF mutational spectrum in a large cohort of patients
-
Oct 13
-
Krahn M, Béroud C, Labelle V. Analysis of the DYSF mutational spectrum in a large cohort of patients. Hum Mutat 2008 Oct 13.
-
(2008)
Hum Mutat
-
-
Krahn, M.1
Béroud, C.2
Labelle, V.3
-
66
-
-
0030951089
-
Primary adhalinopathy (alphasarcoglycanopathy): Clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy
-
Eymard B, Romero NB, Leturcq F, et al. Primary adhalinopathy (alphasarcoglycanopathy): Clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. Neurology 1997;48:1227-34.
-
(1997)
Neurology
, vol.48
, pp. 1227-1234
-
-
Eymard, B.1
Romero, N.B.2
Leturcq, F.3
-
67
-
-
0034917189
-
Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: Implications for current diagnostics and patient care
-
Schara U, Gencik M, Mortier J. Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care. Eur J Pediatr 2001;160:452-3.
-
(2001)
Eur J Pediatr
, vol.160
, pp. 452-453
-
-
Schara, U.1
Gencik, M.2
Mortier, J.3
-
68
-
-
56649105127
-
Sarcoglycanopathies: Can muscle immunoanalysis predict the genotype?
-
Klinge L, Dekomien G, Aboumousa A. Sarcoglycanopathies: Can muscle immunoanalysis predict the genotype? Neuromuscul Disord 2008;18:934-41.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 934-941
-
-
Klinge, L.1
Dekomien, G.2
Aboumousa, A.3
-
69
-
-
50549085053
-
Lack of toxicity of alpha-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D
-
Rodino-Klapac LR, Lee JS, Mulligan RC, et al. Lack of toxicity of alpha-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D. Neurology 2008;71:240-7.
-
(2008)
Neurology
, vol.71
, pp. 240-247
-
-
Rodino-Klapac, L.R.1
Lee, J.S.2
Mulligan, R.C.3
-
70
-
-
0037461292
-
The phenotype of limb-girdle muscular dystrophy type 2I
-
Poppe M, Cree L, Bourke J. 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
-
71
-
-
18144383531
-
Continued need for caution in the diagnosis of Duchenne muscular dystrophy
-
Griggs RC, Bushby K. Continued need for caution in the diagnosis of Duchenne muscular dystrophy. Neurology 2005;64:1498-9.
-
(2005)
Neurology
, vol.64
, pp. 1498-1499
-
-
Griggs, R.C.1
Bushby, K.2
-
72
-
-
33750619100
-
Cardiac involvement in limb-girdle muscular dystrophy 2I: Conventional cardiac diagnostic and cardiovascular magnetic resonance
-
Gaul C, Deschauer M, Tempelmann C. Cardiac involvement in limb-girdle muscular dystrophy 2I: conventional cardiac diagnostic and cardiovascular magnetic resonance. Neurol 2006;253:1317-22.
-
(2006)
Neurol
, vol.253
, pp. 1317-1322
-
-
Gaul, C.1
Deschauer, M.2
Tempelmann, C.3
-
73
-
-
43449084043
-
Muscular dystrophies due to defective glycosylation of dystroglycan
-
Muntoni F, Brockington M, Godfrey C. Muscular dystrophies due to defective glycosylation of dystroglycan. Acta Myol 2007;26:129-35.
-
(2007)
Acta Myol
, vol.26
, pp. 129-135
-
-
Muntoni, F.1
Brockington, M.2
Godfrey, C.3
-
74
-
-
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. 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;15:271-5.
-
(2005)
Neuromuscul Disord
, vol.15
, pp. 271-275
-
-
Balci, B.1
Uyanik, G.2
Dincer, P.3
-
75
-
-
38349059064
-
Mild POMGnT1 mutations underlie a novel limbgirdle muscular dystrophy variant
-
Clement EM, Godfrey C, Tan J. Mild POMGnT1 mutations underlie a novel limbgirdle muscular dystrophy variant. Arch Neurol 2008;65:137-41.
-
(2008)
Arch Neurol
, vol.65
, pp. 137-141
-
-
Clement, E.M.1
Godfrey, C.2
Tan, J.3
-
76
-
-
35148838670
-
Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I
-
Darin N, Kroksmark AK, Ahlander AC. Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I. Eur J Paediatr Neurol 2007;11:353-7.
-
(2007)
Eur J Paediatr Neurol
, vol.11
, pp. 353-357
-
-
Darin, N.1
Kroksmark, A.K.2
Ahlander, A.C.3
-
77
-
-
33845292617
-
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy
-
Godfrey C, Escolar D, Brockington M. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Ann Neurol 2006;60:603-10.
-
(2006)
Ann Neurol
, vol.60
, pp. 603-610
-
-
Godfrey, C.1
Escolar, D.2
Brockington, M.3
-
79
-
-
0027278526
-
Tibial muscular dystrophy-late adult-onset distal myopathy in 66 Finnish patients
-
Udd B, Partanen J, Halonen P, et al. Tibial muscular dystrophy-late adult-onset distal myopathy in 66 Finnish patients. Arch Neurol 1993;50:604-8.
-
(1993)
Arch Neurol
, vol.50
, pp. 604-608
-
-
Udd, B.1
Partanen, J.2
Halonen, P.3
-
80
-
-
13844311060
-
Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J
-
Udd B, Vihola A, Sarparanta J, et al. Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. Neurology 2005;64:636-42.
-
(2005)
Neurology
, vol.64
, pp. 636-642
-
-
Udd, B.1
Vihola, A.2
Sarparanta, J.3
-
81
-
-
34247620197
-
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy
-
Carmignac V, Salih MAM, Quijano-RoyS, et al. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol 2007;61:340-51.
-
(2007)
Ann Neurol
, vol.61
, pp. 340-351
-
-
Carmignac, V.1
Salih, M.A.M.2
RoyS, Q.3
|