-
1
-
-
21444450805
-
Clinical and molecular aspects of the myotonic dystrophies: a review
-
Machuca-Tzili L, Brook D, Hilton-Jones D. Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve 2005;32:1-18.
-
(2005)
Muscle Nerve
, vol.32
, pp. 1-18
-
-
Machuca-Tzili, L.1
Brook, D.2
Hilton-Jones, D.3
-
2
-
-
2342461060
-
Myotonic dystrophy: RNA pathogenesis comes into focus
-
Ranum LP, Day JW. Myotonic dystrophy: RNA pathogenesis comes into focus. Am J Hum Genet 2004;74:793-804.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 793-804
-
-
Ranum, L.P.1
Day, J.W.2
-
3
-
-
0028912550
-
Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?
-
Zatz M, Passos-Bueno MR, Cerqueira A, Marie SK, Vainzof M, Pavanello RC. Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur? Hum Mol Genet 1995;4:401-406.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 401-406
-
-
Zatz, M.1
Passos-Bueno, M.R.2
Cerqueira, A.3
Marie, S.K.4
Vainzof, M.5
Pavanello, R.C.6
-
4
-
-
0027953827
-
Muscle histopathology in myotonic dystrophy in relation to age and muscular weakness
-
Tohgi H, Kawamorita A, Utsugisawa K, Yamagata M, Sano M. Muscle histopathology in myotonic dystrophy in relation to age and muscular weakness. Muscle Nerve 1994;17:1037-1043.
-
(1994)
Muscle Nerve
, vol.17
, pp. 1037-1043
-
-
Tohgi, H.1
Kawamorita, A.2
Utsugisawa, K.3
Yamagata, M.4
Sano, M.5
-
5
-
-
70449724660
-
Satellite cell dysfunction contributes to the progressive muscle atrophy in myotonic dystrophy type 1
-
Thornell LE, Lindstom M, Renault V, Klein A, Mouly V, Ansved T, et al. Satellite cell dysfunction contributes to the progressive muscle atrophy in myotonic dystrophy type 1. Neuropathol Appl Neurobiol 2009;35:603-613.
-
(2009)
Neuropathol Appl Neurobiol
, vol.35
, pp. 603-613
-
-
Thornell, L.E.1
Lindstom, M.2
Renault, V.3
Klein, A.4
Mouly, V.5
Ansved, T.6
-
6
-
-
84874262471
-
Muscular dystrophies and allied disorders. V: Facioscapulohumeral, myotonic and oculopharygeal muscular dystrophy
-
In: Houston MJ, Cook L, editors. Muscle biopsy: a practical approach. Vol. . London: Elsevier; . p -.
-
Dubowitz V, Sewry CA. Muscular dystrophies and allied disorders. V: Facioscapulohumeral, myotonic and oculopharygeal muscular dystrophy. In: Houston MJ, Cook L, editors. Muscle biopsy: a practical approach. Vol. 3. London: Elsevier; 2007. p 395-406.
-
(2007)
, vol.3
, pp. 395-406
-
-
Dubowitz, V.1
Sewry, C.A.2
-
7
-
-
0020076973
-
Sodium channel and sodium pump in normal and pathological muscles from patients with myotonic muscular dystrophy and lower motor neuron impairment
-
Desnuelle C, Lombet A, Serratrice G, Lazdunski M. Sodium channel and sodium pump in normal and pathological muscles from patients with myotonic muscular dystrophy and lower motor neuron impairment. J Clin Invest 1982;69:358-367.
-
(1982)
J Clin Invest
, vol.69
, pp. 358-367
-
-
Desnuelle, C.1
Lombet, A.2
Serratrice, G.3
Lazdunski, M.4
-
8
-
-
0038070931
-
Na+-K+pump regulation and skeletal muscle contractility
-
Clausen T. Na+-K+pump regulation and skeletal muscle contractility. Physiol Rev 2003;83:1269-1324.
-
(2003)
Physiol Rev
, vol.83
, pp. 1269-1324
-
-
Clausen, T.1
-
9
-
-
0029985323
-
Ion transport in human skeletal muscle cells: disturbances in myotonic dystrophy and Brody's disease
-
Benders AA, Wevers RA, Veerkamp JH. Ion transport in human skeletal muscle cells: disturbances in myotonic dystrophy and Brody's disease. Acta Physiol Scand 1996;156:355-367.
-
(1996)
Acta Physiol Scand
, vol.156
, pp. 355-367
-
-
Benders, A.A.1
Wevers, R.A.2
Veerkamp, J.H.3
-
10
-
-
0035852861
-
Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy
-
Mathieu J, Boivin H, Meunier D, Gaudreault M, Begin P. Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy. Neurology 2001;56:336-340.
-
(2001)
Neurology
, vol.56
, pp. 336-340
-
-
Mathieu, J.1
Boivin, H.2
Meunier, D.3
Gaudreault, M.4
Begin, P.5
-
11
-
-
0028084350
-
Comparison of a hand-held and fixed dynamometer in measuring strength of patients with neuromuscular disease
-
Brinkmann JR. Comparison of a hand-held and fixed dynamometer in measuring strength of patients with neuromuscular disease. J Orthop Sports Phys Ther 1994;19:100-104.
-
(1994)
J Orthop Sports Phys Ther
, vol.19
, pp. 100-104
-
-
Brinkmann, J.R.1
-
12
-
-
34548277627
-
Computerized hand grip myometry reliably measures myotonia and muscle strength in myotonic dystrophy (DM1)
-
III
-
Moxley RT III, Logigian EL, Martens WB, Annis CL, Pandya S, Moxley RT, et al. Computerized hand grip myometry reliably measures myotonia and muscle strength in myotonic dystrophy (DM1). Muscle Nerve 2007;36:320-328.
-
(2007)
Muscle Nerve
, vol.36
, pp. 320-328
-
-
Moxley, R.T.1
Logigian, E.L.2
Martens, W.B.3
Annis, C.L.4
Pandya, S.5
Moxley, R.T.6
-
13
-
-
21444437692
-
Quantitative analysis of the "warm-up" phenomenon in myotonic dystrophy type 1
-
Logigian EL, Blood CL, Dilek N, Martens WB, Moxley RT, Wiegner AW, et al. Quantitative analysis of the "warm-up" phenomenon in myotonic dystrophy type 1. Muscle Nerve 2005;32:35-42.
-
(2005)
Muscle Nerve
, vol.32
, pp. 35-42
-
-
Logigian, E.L.1
Blood, C.L.2
Dilek, N.3
Martens, W.B.4
Moxley, R.T.5
Wiegner, A.W.6
-
14
-
-
0344839032
-
Decrement of compound muscle action potential is related to mutation type in myotonia congenita
-
Colding-Jorgensen E, Duno M, Schwartz M, Vissing J. Decrement of compound muscle action potential is related to mutation type in myotonia congenita. Muscle Nerve 2003;27:449-455.
-
(2003)
Muscle Nerve
, vol.27
, pp. 449-455
-
-
Colding-Jorgensen, E.1
Duno, M.2
Schwartz, M.3
Vissing, J.4
-
15
-
-
55649091862
-
Definition of pathological changes seen in muscle biopsies
-
In: Houston MJ, Cook L, editors. Muscle biopsy: a practical approach. Vol. . London: Elsevier; . p -.
-
Dubowitz V, Sewry CA. Definition of pathological changes seen in muscle biopsies. In: Houston MJ, Cook L, editors. Muscle biopsy: a practical approach. Vol. 3. London: Elsevier; 2007. p 75-124.
-
(2007)
, vol.3
, pp. 75-124
-
-
Dubowitz, V.1
Sewry, C.A.2
-
16
-
-
0031822895
-
Clinical and therapeutic significance of the Na+,K+pump
-
Clausen T. Clinical and therapeutic significance of the Na+, K+pump. Clin Sci Lond 1998;95:3-17.
-
(1998)
Clin Sci Lond
, vol.95
, pp. 3-17
-
-
Clausen, T.1
-
17
-
-
33646695953
-
Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions
-
Arsenault ME, Prevost C, Lescault A, Laberge C, Puymirat J, Mathieu J. Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions. Neurology 2006;66:1248-1250.
-
(2006)
Neurology
, vol.66
, pp. 1248-1250
-
-
Arsenault, M.E.1
Prevost, C.2
Lescault, A.3
Laberge, C.4
Puymirat, J.5
Mathieu, J.6
-
18
-
-
0033008673
-
CTG-repeat length in distal and proximal leg muscles of symptomatic and non-symptomatic patients with myotonic dystrophy: relation to muscle strength and degree of histopathological abnormalities
-
Hedberg B, Anvret M, Ansved T. CTG-repeat length in distal and proximal leg muscles of symptomatic and non-symptomatic patients with myotonic dystrophy: relation to muscle strength and degree of histopathological abnormalities. Eur J Neurol 1999;6:341-346.
-
(1999)
Eur J Neurol
, vol.6
, pp. 341-346
-
-
Hedberg, B.1
Anvret, M.2
Ansved, T.3
-
19
-
-
25144497468
-
Genotype-phenotype correlations in hereditary muscle diseases. Implications for diagnosis and treatment
-
Leshner RT. Genotype-phenotype correlations in hereditary muscle diseases. Implications for diagnosis and treatment. Suppl Clin Neurophysiol 2004;57:322-333.
-
(2004)
Suppl Clin Neurophysiol
, vol.57
, pp. 322-333
-
-
Leshner, R.T.1
-
20
-
-
1842476000
-
Leukocyte CTG repeat length correlates with severity of myotonia in myotonic dystrophy type 1
-
Logigian EL, Moxley RT, Blood CL, Barbieri CA, Martens WB, Wiegner AW, et al. Leukocyte CTG repeat length correlates with severity of myotonia in myotonic dystrophy type 1. Neurology 2004;62:1081-1089.
-
(2004)
Neurology
, vol.62
, pp. 1081-1089
-
-
Logigian, E.L.1
Moxley, R.T.2
Blood, C.L.3
Barbieri, C.A.4
Martens, W.B.5
Wiegner, A.W.6
-
21
-
-
34147135054
-
Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients
-
Salehi LB, Bonifazi E, Stasio ED, Gennarelli M, Botta A, Vallo L, et al. Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2, 650 patients. Genet Test 2007;11:84-90.
-
(2007)
Genet Test
, vol.11
, pp. 84-90
-
-
Salehi, L.B.1
Bonifazi, E.2
Stasio, E.D.3
Gennarelli, M.4
Botta, A.5
Vallo, L.6
-
22
-
-
26844464376
-
Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1
-
Salvatori S, Fanin M, Trevisan CP, Furlan S, Reddy S, Nagy JI, et al. Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1. Neurol Sci 2005;26:235-242.
-
(2005)
Neurol Sci
, vol.26
, pp. 235-242
-
-
Salvatori, S.1
Fanin, M.2
Trevisan, C.P.3
Furlan, S.4
Reddy, S.5
Nagy, J.I.6
-
23
-
-
0036164388
-
250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1
-
Savic D, Rakocvic-Stojanovic V, Keckarevic D, Culjkovic B, Stojkovic O, Mladenovic J, et al. 250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1. Hum Mutat 2002;19:131-139.
-
(2002)
Hum Mutat
, vol.19
, pp. 131-139
-
-
Savic, D.1
Rakocvic-Stojanovic, V.2
Keckarevic, D.3
Culjkovic, B.4
Stojkovic, O.5
Mladenovic, J.6
-
24
-
-
0026078323
-
Variability in muscle fibre areas in whole human quadriceps muscle: effects of increasing age
-
Lexell J, Taylor CC. Variability in muscle fibre areas in whole human quadriceps muscle: effects of increasing age. J Anat 1991;174:239-249.
-
(1991)
J Anat
, vol.174
, pp. 239-249
-
-
Lexell, J.1
Taylor, C.C.2
-
25
-
-
84874237950
-
Endocrine function in 97 patients with myotonic dystrophy type 1
-
Ørngreen MC, Arlien-Sborg P, Duno M, Hertz JM, Vissing J. Endocrine function in 97 patients with myotonic dystrophy type 1. J Neurol 2012;97:E765-770.
-
(2012)
J Neurol
, vol.97
-
-
Ørngreen, M.C.1
Arlien-Sborg, P.2
Duno, M.3
Hertz, J.M.4
Vissing, J.5
-
26
-
-
18244394008
-
Aerobic training in patients with myotonic dystrophy type 1
-
Orngreen MC, Olsen DB, Vissing J. Aerobic training in patients with myotonic dystrophy type 1. Ann Neurol 2005;57:754-757.
-
(2005)
Ann Neurol
, vol.57
, pp. 754-757
-
-
Orngreen, M.C.1
Olsen, D.B.2
Vissing, J.3
-
27
-
-
0032943406
-
Effects of high resistance training in patients with myotonic dystrophy
-
Tollback A, Eriksson S, Wredenberg A, Jenner G, Vargas R, Borg K, et al. Effects of high resistance training in patients with myotonic dystrophy. Scand J Rehabil Med 1999;31:9-16.
-
(1999)
Scand J Rehabil Med
, vol.31
, pp. 9-16
-
-
Tollback, A.1
Eriksson, S.2
Wredenberg, A.3
Jenner, G.4
Vargas, R.5
Borg, K.6
-
28
-
-
0020528848
-
Quantitative testing of handgrip strength, myotonia, and fatigue in myotonic dystrophy
-
Torres C, Moxley RT, Griggs RC. Quantitative testing of handgrip strength, myotonia, and fatigue in myotonic dystrophy. J Neurol Sci 1983;60:157-168.
-
(1983)
J Neurol Sci
, vol.60
, pp. 157-168
-
-
Torres, C.1
Moxley, R.T.2
Griggs, R.C.3
-
29
-
-
35448991345
-
Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders
-
Michel P, Sternberg D, Jeannet PY, Dunand M, Thonney F, Kress W, et al. Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders. Muscle Nerve 2007;36:643-650.
-
(2007)
Muscle Nerve
, vol.36
, pp. 643-650
-
-
Michel, P.1
Sternberg, D.2
Jeannet, P.Y.3
Dunand, M.4
Thonney, F.5
Kress, W.6
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