-
1
-
-
75149122299
-
Inclusion body myositis: MRC Centre for Neuromuscular Diseases, IBM workshop, London, 13 June 2008
-
Hilton-Jones D., Miller A., Parton M., Holton J., Sewry C., Hanna M.G. Inclusion body myositis: MRC Centre for Neuromuscular Diseases, IBM workshop, London, 13 June 2008. Neuromuscular Disord 2010, 20(2):142-147.
-
(2010)
Neuromuscular Disord
, vol.20
, Issue.2
, pp. 142-147
-
-
Hilton-Jones, D.1
Miller, A.2
Parton, M.3
Holton, J.4
Sewry, C.5
Hanna, M.G.6
-
3
-
-
0033549032
-
10-year study of mortality in a cohort of patients with myotonic dystrophy
-
Mathieu J., Allard P., Potvin L., et al. 10-year study of mortality in a cohort of patients with myotonic dystrophy. Neurology 1999, 52:1658-1662.
-
(1999)
Neurology
, vol.52
, pp. 1658-1662
-
-
Mathieu, J.1
Allard, P.2
Potvin, L.3
-
4
-
-
0019423437
-
Hypersomonia associated with alveolar hypoventilation in myotonic dystrophy
-
Hanostia P., Frenz D. Hypersomonia associated with alveolar hypoventilation in myotonic dystrophy. Neurology 1981, 31:1336-1337.
-
(1981)
Neurology
, vol.31
, pp. 1336-1337
-
-
Hanostia, P.1
Frenz, D.2
-
6
-
-
0031887703
-
Loss of serotonin-containing neurons in the raphe of patients with myotonic dystrophy: a quantitative immunohistochemical study and relation to hypersomnia
-
Ono S., Takahashi K., Jinnai K., et al. Loss of serotonin-containing neurons in the raphe of patients with myotonic dystrophy: a quantitative immunohistochemical study and relation to hypersomnia. Neurology 1998, 50:535-538.
-
(1998)
Neurology
, vol.50
, pp. 535-538
-
-
Ono, S.1
Takahashi, K.2
Jinnai, K.3
-
7
-
-
0037105033
-
Excessive daytime somnolence and increased rapid eye movement pressure in myotonic dystrophy
-
Gibbs J.W., Ciafaloni E., Radtke R.A. Excessive daytime somnolence and increased rapid eye movement pressure in myotonic dystrophy. Sleep 2002, 25:672-675.
-
(2002)
Sleep
, vol.25
, pp. 672-675
-
-
Gibbs, J.W.1
Ciafaloni, E.2
Radtke, R.A.3
-
8
-
-
0035957279
-
Modafinil for excessive daytime sleepiness in myotonic dystrophy
-
Damian M.S., Gerlach A., Schmidt F., et al. Modafinil for excessive daytime sleepiness in myotonic dystrophy. Neurology 2001, 56:794-796.
-
(2001)
Neurology
, vol.56
, pp. 794-796
-
-
Damian, M.S.1
Gerlach, A.2
Schmidt, F.3
-
9
-
-
0037168764
-
Modafinil reduces excessive somnolence and enhances mood in patients with myotonic dystrophy
-
MacDonald J.R., Hill J.D., Tarnopolsky M.A. Modafinil reduces excessive somnolence and enhances mood in patients with myotonic dystrophy. Neurology 2002, 59:180-187.
-
(2002)
Neurology
, vol.59
, pp. 180-187
-
-
MacDonald, J.R.1
Hill, J.D.2
Tarnopolsky, M.A.3
-
10
-
-
0038512460
-
Reduction in excess daytime sleepiness by modafinil in patients with myotonic dystrophy
-
Talbot K., Stradling J., Crosby J., et al. Reduction in excess daytime sleepiness by modafinil in patients with myotonic dystrophy. Neuromuscular Disord 2003, 13:357-364.
-
(2003)
Neuromuscular Disord
, vol.13
, pp. 357-364
-
-
Talbot, K.1
Stradling, J.2
Crosby, J.3
-
11
-
-
84888429131
-
-
Assessment report for modafinil containing medicinal products. European Medicines Agnecy. Procedure number: EMEA/H/A-31/1186
-
Assessment report for modafinil containing medicinal products. European Medicines Agnecy. Procedure number: EMEA/H/A-31/1186. http://www.ema.europa.eu/docs/en_GB/document_library/Referrals_document/Modafinil_31/WC500105597.pdf.
-
-
-
-
12
-
-
45549084293
-
Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1
-
Groh W.J., Groh M.R., Saha C., et al. Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. N Engl J Med 2008, 358:2688-2697.
-
(2008)
N Engl J Med
, vol.358
, pp. 2688-2697
-
-
Groh, W.J.1
Groh, M.R.2
Saha, C.3
-
13
-
-
84859204511
-
Electrophysiological study with prophylactic pacing and survival in adults with myotonic dystrophy and conduction system disease
-
Wahbi K., Meune C., Porcher R., et al. Electrophysiological study with prophylactic pacing and survival in adults with myotonic dystrophy and conduction system disease. JAMA 2012, 307(12):1292-1301.
-
(2012)
JAMA
, vol.307
, Issue.12
, pp. 1292-1301
-
-
Wahbi, K.1
Meune, C.2
Porcher, R.3
-
14
-
-
77956108781
-
Rimer, M, Killian JM, Dowling, J, Cooper, TA. CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1
-
Ward A.J. Rimer, M, Killian JM, Dowling, J, Cooper, TA. CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1. Hum Mol Genet 2010, 19(18):3614-3622.
-
(2010)
Hum Mol Genet
, vol.19
, Issue.18
, pp. 3614-3622
-
-
Ward, A.J.1
-
15
-
-
77958589213
-
RNA-binding Protein Muscleblind-like 3 (MBNL3) Disrupts Myocyte Enhancer Factor 2 (Mef2) β-Exon Splicing
-
Lee K.S., Cao Y., Witwicka H.E., Tom S., Tapscott S.J., Wang E.H. RNA-binding Protein Muscleblind-like 3 (MBNL3) Disrupts Myocyte Enhancer Factor 2 (Mef2) β-Exon Splicing. J Biol Chem 2010, 285(44):33779-33787.
-
(2010)
J Biol Chem
, vol.285
, Issue.44
, pp. 33779-33787
-
-
Lee, K.S.1
Cao, Y.2
Witwicka, H.E.3
Tom, S.4
Tapscott, S.J.5
Wang, E.H.6
-
16
-
-
61449183565
-
Alternative splicing of RyR1 alters the efficacy of skeletal EC coupling
-
Kimura T., Lueck J.D., Harvey P.J., et al. Alternative splicing of RyR1 alters the efficacy of skeletal EC coupling. Cell Calcium 2009, 45:264-274.
-
(2009)
Cell Calcium
, vol.45
, pp. 264-274
-
-
Kimura, T.1
Lueck, J.D.2
Harvey, P.J.3
-
17
-
-
49049095956
-
Dehydroepiandrosterone for myotonic dystrophy type 1
-
Pénisson-Besnier I., Devillers M., Porcher R., et al. Dehydroepiandrosterone for myotonic dystrophy type 1. Neurology 2008, 71(6):407-412.
-
(2008)
Neurology
, vol.71
, Issue.6
, pp. 407-412
-
-
Pénisson-Besnier, I.1
Devillers, M.2
Porcher, R.3
-
18
-
-
78651312601
-
Open-Label Trial of Recombinant Human Insulin-like Growth Factor 1/Recombinant Human Insulin-like Growth Factor Binding Protein 3 in Myotonic Dystrophy Type 1
-
Heatwole C.R., Eichinger K.J., Friedman D.I., et al. Open-Label Trial of Recombinant Human Insulin-like Growth Factor 1/Recombinant Human Insulin-like Growth Factor Binding Protein 3 in Myotonic Dystrophy Type 1. Arch Neurol 2011, 68(1):37-44.
-
(2011)
Arch Neurol
, vol.68
, Issue.1
, pp. 37-44
-
-
Heatwole, C.R.1
Eichinger, K.J.2
Friedman, D.I.3
-
19
-
-
0344407002
-
Reilich P, Lochmuller H, et al. Creatine monohydrate in myotonic dystrophy:a double-blind, placebo-controlled clinical study
-
Walter M.C. Reilich P, Lochmuller H, et al. Creatine monohydrate in myotonic dystrophy:a double-blind, placebo-controlled clinical study. J Neurol 2002, 249:1717-1722.
-
(2002)
J Neurol
, vol.249
, pp. 1717-1722
-
-
Walter, M.C.1
-
20
-
-
0347991959
-
Creatine monohydrate supplementation does not increase muscle strength, lean body mass, or muscle phosphocreatine in patients with myotonic dystrophy type 1
-
Tarnopolsky M., Mahoney D., Thompson T., et al. Creatine monohydrate supplementation does not increase muscle strength, lean body mass, or muscle phosphocreatine in patients with myotonic dystrophy type 1. Muscle Nerve 2004, 29:51-58.
-
(2004)
Muscle Nerve
, vol.29
, pp. 51-58
-
-
Tarnopolsky, M.1
Mahoney, D.2
Thompson, T.3
-
21
-
-
0029068157
-
Strength training in patients with myotonic dystrophy and hereditary motor and sensory neuropathy: a randomized clinical trial
-
Lindeman E., Leffers P., Spaans F., et al. Strength training in patients with myotonic dystrophy and hereditary motor and sensory neuropathy: a randomized clinical trial. Arch Phys Med Rehabil 1995, 76(7):612-620.
-
(1995)
Arch Phys Med Rehabil
, vol.76
, Issue.7
, pp. 612-620
-
-
Lindeman, E.1
Leffers, P.2
Spaans, F.3
-
23
-
-
77951848201
-
Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1
-
Logigian E.L., Martens W.B., Moxley R.T., et al. Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. Neurology 2010, 74(18):1441-1448.
-
(2010)
Neurology
, vol.74
, Issue.18
, pp. 1441-1448
-
-
Logigian, E.L.1
Martens, W.B.2
Moxley, R.T.3
-
24
-
-
0015733451
-
Smooth muscle activity in myotonic dystrophy
-
Orndahl G., Kock N.G., Sundin T. Smooth muscle activity in myotonic dystrophy. Brain 1973, 96(4):857-860.
-
(1973)
Brain
, vol.96
, Issue.4
, pp. 857-860
-
-
Orndahl, G.1
Kock, N.G.2
Sundin, T.3
-
25
-
-
2442765959
-
Dystrophia myotonica (myotonia atrophica)
-
Adie W.J., Greenfield J.G. Dystrophia myotonica (myotonia atrophica). Brain 1923, 46:73-127.
-
(1923)
Brain
, vol.46
, pp. 73-127
-
-
Adie, W.J.1
Greenfield, J.G.2
-
26
-
-
2642609621
-
-
Mental changes in families affected by dystrophia myotonica. Lancet 1937:21-3
-
Maas O, Paterson AS. Mental changes in families affected by dystrophia myotonica. Lancet 1937:21-3.
-
-
-
Maas, O.1
Paterson, A.S.2
-
27
-
-
33747053410
-
Subtle cognitive dysfunction in adult onset myotonic dystrophy type 1 (DM1) and type 2 (DM2)
-
Gaul C., Schmidt T., Windisch G., et al. Subtle cognitive dysfunction in adult onset myotonic dystrophy type 1 (DM1) and type 2 (DM2). Neurology 2006, 67:350-352.
-
(2006)
Neurology
, vol.67
, pp. 350-352
-
-
Gaul, C.1
Schmidt, T.2
Windisch, G.3
-
28
-
-
10044247416
-
Characterization of the pattern of cognitive impairment in myotonic dystrophy type 1
-
Modoni A., Silvestri G., Pomponi M.G., Mangiola F., Tonali P.A., Marra C. Characterization of the pattern of cognitive impairment in myotonic dystrophy type 1. Arch Neurol 2004, 61:1943-1947.
-
(2004)
Arch Neurol
, vol.61
, pp. 1943-1947
-
-
Modoni, A.1
Silvestri, G.2
Pomponi, M.G.3
Mangiola, F.4
Tonali, P.A.5
Marra, C.6
-
29
-
-
33947709394
-
Cognitive impairment in adult myotonic dystrophies: a longitudinal study
-
Sansone V., Gandossini S., Cotelli M., Calabria M., Zanetti O., Meola G. Cognitive impairment in adult myotonic dystrophies: a longitudinal study. Neurol Sci 2007, 28:9-15.
-
(2007)
Neurol Sci
, vol.28
, pp. 9-15
-
-
Sansone, V.1
Gandossini, S.2
Cotelli, M.3
Calabria, M.4
Zanetti, O.5
Meola, G.6
-
30
-
-
76649123924
-
Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1Psychological
-
Sistiaga A., Urreta I., Jodar A.M., et al. Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1Psychological. Medicine 2010, 40:487-495.
-
(2010)
Medicine
, vol.40
, pp. 487-495
-
-
Sistiaga, A.1
Urreta, I.2
Jodar, A.M.3
-
31
-
-
32344453879
-
Facial emotion recognition in myotonic dystrophy type 1 correlates with CTG repeat expansion
-
Winblad S., Hellström P., Lindberg C., Hansen S. Facial emotion recognition in myotonic dystrophy type 1 correlates with CTG repeat expansion. J Neurol Neurosurg Psychiatry 2006, 77:219-223.
-
(2006)
J Neurol Neurosurg Psychiatry
, vol.77
, pp. 219-223
-
-
Winblad, S.1
Hellström, P.2
Lindberg, C.3
Hansen, S.4
-
32
-
-
0028213423
-
Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification
-
Turnpenny P., Clark C., Kelly K. Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification. J Med Genet 1994, 31(4):300-305.
-
(1994)
J Med Genet
, vol.31
, Issue.4
, pp. 300-305
-
-
Turnpenny, P.1
Clark, C.2
Kelly, K.3
-
33
-
-
15944409607
-
Temperament and character in patients with classical myotonic dystrophy type 1 (DM-1)
-
Winblad S., Lindberg C., Hansen S. Temperament and character in patients with classical myotonic dystrophy type 1 (DM-1). Neuromuscular Disord 2005, 15:287-292.
-
(2005)
Neuromuscular Disord
, vol.15
, pp. 287-292
-
-
Winblad, S.1
Lindberg, C.2
Hansen, S.3
-
34
-
-
77950963185
-
Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2
-
Weber Y.G., Roebling R., Kassubek J., et al. Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2. Neurology 2010, 74(14):1108-1117.
-
(2010)
Neurology
, vol.74
, Issue.14
, pp. 1108-1117
-
-
Weber, Y.G.1
Roebling, R.2
Kassubek, J.3
-
35
-
-
0034782506
-
Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1
-
Sergeant N., Sablonnière B., Schraen-Maschke S., et al. Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1. Hum Mol Genet 2001, 10(19):2143-2155.
-
(2001)
Hum Mol Genet
, vol.10
, Issue.19
, pp. 2143-2155
-
-
Sergeant, N.1
Sablonnière, B.2
Schraen-Maschke, S.3
-
36
-
-
28044436700
-
Similar brain tau pathology in DM2/PROMM and DM1/Steinert disease
-
Maurage C.A., Udd B., Ruchoux M.M., et al. Similar brain tau pathology in DM2/PROMM and DM1/Steinert disease. Neurology 2005, 65(10):1636-1638.
-
(2005)
Neurology
, vol.65
, Issue.10
, pp. 1636-1638
-
-
Maurage, C.A.1
Udd, B.2
Ruchoux, M.M.3
-
37
-
-
0035510133
-
Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities
-
Seznec H., Agbulut O., Sergeant N., et al. Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. Hum Mol Genet 2001, 10(23):2717-2726.
-
(2001)
Hum Mol Genet
, vol.10
, Issue.23
, pp. 2717-2726
-
-
Seznec, H.1
Agbulut, O.2
Sergeant, N.3
-
38
-
-
0029761215
-
Gastrointestinal symptoms in myotonic dystrophy
-
Rönnblom A., Forsberg H., Danielsson A. Gastrointestinal symptoms in myotonic dystrophy. Scand J Gastro 1996, 31(7):654-657.
-
(1996)
Scand J Gastro
, vol.31
, Issue.7
, pp. 654-657
-
-
Rönnblom, A.1
Forsberg, H.2
Danielsson, A.3
-
39
-
-
0036998122
-
Gastric emptying in myotonic dystrophy
-
Ronnblom A., Andersson S., Hellstrom P.M., Danielsson A. Gastric emptying in myotonic dystrophy. Eur J Clin Invest 2002, 32:570-574.
-
(2002)
Eur J Clin Invest
, vol.32
, pp. 570-574
-
-
Ronnblom, A.1
Andersson, S.2
Hellstrom, P.M.3
Danielsson, A.4
-
41
-
-
0028873248
-
Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses
-
Monckton D.G., Wong L.J., Ashizawa T., Caskey C.T. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Hum Mol Genet 1995, 4:1-8.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1-8
-
-
Monckton, D.G.1
Wong, L.J.2
Ashizawa, T.3
Caskey, C.T.4
-
42
-
-
33744937952
-
Chemical modifiers of unstable expanded simple sequence repeats: What goes up, could come down
-
Gomes-Pereira M., Monckton D.G. Chemical modifiers of unstable expanded simple sequence repeats: What goes up, could come down. Mutat Res 2006, 598:15-34.
-
(2006)
Mutat Res
, vol.598
, pp. 15-34
-
-
Gomes-Pereira, M.1
Monckton, D.G.2
-
43
-
-
84865088097
-
Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity
-
Morales F., Couto J.M., Higham C.F., et al. Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity. Hum Mol Genet 2012, 21(16):3558-3567.
-
(2012)
Hum Mol Genet
, vol.21
, Issue.16
, pp. 3558-3567
-
-
Morales, F.1
Couto, J.M.2
Higham, C.F.3
-
44
-
-
73249132978
-
Pentamidine reverses the splicing defects associated with myotonic dystrophy
-
Warf M.B., Nakamori M., Matthys C.M., Thornton C.A., Berglund J.A. Pentamidine reverses the splicing defects associated with myotonic dystrophy. Proc Natl Acad Sci USA 2009, 106(44):18551-18556.
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, Issue.44
, pp. 18551-18556
-
-
Warf, M.B.1
Nakamori, M.2
Matthys, C.M.3
Thornton, C.A.4
Berglund, J.A.5
-
45
-
-
69549126597
-
Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy
-
Mulders S.A., van den Broek W.J., Wheeler T.M., et al. Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy. Proc Natl Acad Sci USA 2009, 106(33):13915-13920.
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, Issue.33
, pp. 13915-13920
-
-
Mulders, S.A.1
van den Broek, W.J.2
Wheeler, T.M.3
-
46
-
-
67650828361
-
Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA
-
Wheeler T.M., Sobczak K., Lueck J.D., et al. Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA. Science 2009, 325(5938):336-339.
-
(2009)
Science
, vol.325
, Issue.5938
, pp. 336-339
-
-
Wheeler, T.M.1
Sobczak, K.2
Lueck, J.D.3
-
47
-
-
84864439453
-
Targeting nuclear RNA for in vivo correction of myotonic dystrophy
-
Wheeler T.M., Leger A.J., Pandey S.K., et al. Targeting nuclear RNA for in vivo correction of myotonic dystrophy. Nature 2012, 488(7409):111-115.
-
(2012)
Nature
, vol.488
, Issue.7409
, pp. 111-115
-
-
Wheeler, T.M.1
Leger, A.J.2
Pandey, S.K.3
-
48
-
-
72849117063
-
PKC inhibition ameliorates the cardiac phenotype in a mouse model of myotonic dystrophy type 1
-
Wang G.-S., Kuyumcu-Martinez M.N., Sarma S., et al. PKC inhibition ameliorates the cardiac phenotype in a mouse model of myotonic dystrophy type 1. J Clin Invest 2009, 119(12):3797-3806.
-
(2009)
J Clin Invest
, vol.119
, Issue.12
, pp. 3797-3806
-
-
Wang, G.-S.1
Kuyumcu-Martinez, M.N.2
Sarma, S.3
-
49
-
-
79956118537
-
Zebrafish deficient for Muscleblind-like 2 exhibit features of myotonic dystrophy
-
Machuca-Tzili L.E., Buxton S., Thorpe A., et al. Zebrafish deficient for Muscleblind-like 2 exhibit features of myotonic dystrophy. Dis Model Mech 2011, 4(3):381-392.
-
(2011)
Dis Model Mech
, vol.4
, Issue.3
, pp. 381-392
-
-
Machuca-Tzili, L.E.1
Buxton, S.2
Thorpe, A.3
-
50
-
-
70449528337
-
Workshop report patient registries and trial readiness in myotonic dystrophy-TREAT-NMD/marigold international workshop report
-
Thompson R., Schoser B., Monckton D.G., Blonsky K., Lochmüller H. Workshop report patient registries and trial readiness in myotonic dystrophy-TREAT-NMD/marigold international workshop report. Neuromuscular Disord 2009, 19:860-866.
-
(2009)
Neuromuscular Disord
, vol.19
, pp. 860-866
-
-
Thompson, R.1
Schoser, B.2
Monckton, D.G.3
Blonsky, K.4
Lochmüller, H.5
-
51
-
-
78649391800
-
The DMI expert panel. Health supervision and anticipatory guidance in adult myotonic dystrophy type 1
-
Gagnon C., Chouinard M.C., Laberge L., et al. The DMI expert panel. Health supervision and anticipatory guidance in adult myotonic dystrophy type 1. Neuromuscular Disord 2010, 20:847-851.
-
(2010)
Neuromuscular Disord
, vol.20
, pp. 847-851
-
-
Gagnon, C.1
Chouinard, M.C.2
Laberge, L.3
|