-
1
-
-
0003740896
-
-
W.B. Sanders. 3th edition. London
-
Harper PS (2001) Myotonic Dystrophy. W.B. Sanders. 3th edition. London. 106 p.
-
(2001)
Myotonic Dystrophy
, pp. 106
-
-
Harper, P.S.1
-
2
-
-
0026566108
-
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
-
Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, et al. (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 69: 799-808.
-
(1992)
Cell
, vol.69
, pp. 799-808
-
-
Brook, J.D.1
McCurrach, M.E.2
Harley, H.G.3
Buckler, A.J.4
Church, D.5
-
3
-
-
0026603841
-
Myotonic dystrophy mutation: An unstable CTG repeat in the 3′untranslated region of the gene
-
Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, et al. (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3′untranslated region of the gene. Science 255: 1253-1255.
-
(1992)
Science
, vol.255
, pp. 1253-1255
-
-
Mahadevan, M.1
Tsilfidis, C.2
Sabourin, L.3
Shutler, G.4
Amemiya, C.5
-
4
-
-
0035800434
-
Myotonic dystrophy type 2 caused by a CCTG expansion in intron I of ZNF9
-
DOI 10.1126/science.1062125
-
Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, et al. (2001) Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293: 864-867. (Pubitemid 32743976)
-
(2001)
Science
, vol.293
, Issue.5531
, pp. 864-867
-
-
Liquori, C.L.1
Ricker, K.2
Moseley, M.L.3
Jacobsen, J.F.4
Kress, W.5
Naylor, S.L.6
Day, J.W.7
Ranum, L.P.W.8
-
5
-
-
33748373580
-
RNA-mediated neuromuscular disorders
-
DOI 10.1146/annurev.neuro.29.051605.113014
-
Ranum LP, Cooper TA (2006) RNA-mediated neuromuscular disorders. Annu Rev Neurosci 29: 259-277. (Pubitemid 44476846)
-
(2006)
Annual Review of Neuroscience
, vol.29
, pp. 259-277
-
-
Ranum, L.P.W.1
Cooper, T.A.2
-
6
-
-
34548263375
-
Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy
-
Kuyumcu-Martinez NM, Cooper TA (2006) Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy. Prog Mol Subcell Biol 44: 133-159.
-
(2006)
Prog Mol Subcell Biol
, vol.44
, pp. 133-159
-
-
Kuyumcu-Martinez, N.M.1
Cooper, T.A.2
-
8
-
-
84867331767
-
RNA binding proteins in myotonic dystrophies
-
Denman RB, editor. Kerala: Research Signpost
-
Meola G, Cardani R (2009) RNA binding proteins in myotonic dystrophies. In: Denman RB, editor. RNA binding proteins in development and disease. Kerala: Research Signpost. pp 153-166.
-
(2009)
RNA Binding Proteins in Development and Disease
, pp. 153-166
-
-
Meola, G.1
Cardani, R.2
-
9
-
-
0034282958
-
Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy
-
Miller JW, Urbinati CR, Teng-umnuay P, Stenberg MG, Byrne BJ, et al. (2000) Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J 19: 4439-4448.
-
(2000)
EMBO J
, vol.19
, pp. 4439-4448
-
-
Miller, J.W.1
Urbinati, C.R.2
Teng-umnuay, P.3
Stenberg, M.G.4
Byrne, B.J.5
-
10
-
-
1542299596
-
Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats
-
DOI 10.1093/hmg/ddh056
-
Kino Y, Mori D, Oma Y, Takeshita Y, Sasagawa N, et al. (2004) Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats. Hum Mol Genet 13: 495-507. (Pubitemid 38313209)
-
(2004)
Human Molecular Genetics
, vol.13
, Issue.5
, pp. 495-507
-
-
Kino, Y.1
Daisuke, M.2
Oma, Y.3
Takeshita, Y.4
Sasagawa, N.5
Ishuira, S.6
-
11
-
-
0034783271
-
Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2
-
Mankodi A, Urbinati CR, Yuan QP, Moxley RT, Sansone V, et al. (2001) Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum Mol Genet 10: 2165-2170. (Pubitemid 32998828)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.19
, pp. 2165-2170
-
-
Mankodi, A.1
Urbinati, C.R.2
Yuan, Q.-P.3
Moxley, R.T.4
Sansone, V.5
Krym, M.6
Henderson, D.7
Schalling, M.8
Swanson, M.S.9
Thornton, C.A.10
-
12
-
-
0036537492
-
Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
-
Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, et al. (2002) Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. Hum Mol Genet 11: 805-814. (Pubitemid 34428648)
-
(2002)
Human Molecular Genetics
, vol.11
, Issue.7
, pp. 805-814
-
-
Fardaei, M.1
Rogers, M.T.2
Thorpe, H.M.3
Larkin, K.4
Hamshere, M.G.5
Harper, P.S.6
Brook, J.D.7
-
13
-
-
0035394801
-
In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts
-
Fardaei M, Larkin K, Brook JD, Hamshere MG (2001) In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts. Nucleic Acids Res 29: 2766-2771. (Pubitemid 32685039)
-
(2001)
Nucleic Acids Research
, vol.29
, Issue.13
, pp. 2766-2771
-
-
Fardaei, M.1
Larkin, K.2
Brook, J.D.3
Hamshere, M.G.4
-
14
-
-
0345526827
-
Ribonuclear Inclusions in Skeletal Muscle in Myotonic Dystrophy Types 1 and 2
-
DOI 10.1002/ana.10763
-
Mankodi A, Teng-umnuay P, Krym M, Henderson D, Swanson M, et al. (2003) Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2. Ann Neurol 54: 760-768. (Pubitemid 37498959)
-
(2003)
Annals of Neurology
, vol.54
, Issue.6
, pp. 760-768
-
-
Mankodi, A.1
Teng-Umnuay, P.2
Krym, M.3
Henderson, D.4
Swanson, M.5
Thornton, C.A.6
-
15
-
-
14044252328
-
MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1
-
DOI 10.1074/jbc.M410781200
-
Dansithong W, Paul S, Comai L, Reddy S (2005) MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1. J Biol Chem 280: 5773-5780. (Pubitemid 40280057)
-
(2005)
Journal of Biological Chemistry
, vol.280
, Issue.7
, pp. 5773-5780
-
-
Dansithong, W.1
Paul, S.2
Comai, L.3
Reddy, S.4
-
16
-
-
0034873099
-
Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy
-
DOI 10.1038/ng704
-
Savkur RS, Philips AV, Cooper TA (2001) Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Gen 29: 40-47. (Pubitemid 32801806)
-
(2001)
Nature Genetics
, vol.29
, Issue.1
, pp. 40-47
-
-
Savkur, R.S.1
Philips, A.V.2
Cooper, T.A.3
-
17
-
-
0035896610
-
RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1
-
Timchenko NA, Cai ZJ, Welm AL, Reddy S, Ashizawa T, et al. (2001) RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1. J Biol Chem 276: 7820-7826.
-
(2001)
J Biol Chem
, vol.276
, pp. 7820-7826
-
-
Timchenko, N.A.1
Cai, Z.J.2
Welm, A.L.3
Reddy, S.4
Ashizawa, T.5
-
18
-
-
0001125916
-
New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1)
-
Ashizawa T, Baiget M (2000) New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). The International Myotonic Dystrophy Consortium (IDMC). Neurology 54:1218-221. (Pubitemid 30174036)
-
(2000)
Neurology
, vol.54
, Issue.6
, pp. 1218-1221
-
-
Ashizawa, T.1
Gonzales, I.2
Ohsawa, N.3
Singer, R.H.4
Devillers, M.5
Ashizawa, T.6
Balasubramanyam, A.7
Cooper, T.A.8
Khajavi, M.9
Lia-Baldini, A.-S.10
Miller, G.11
Philips, A.V.12
Timchenko, L.T.13
Waring, J.14
Yamagata, H.15
Barbet, J.P.16
Klesert, T.R.17
Tapscott, S.J.18
Roses, A.D.19
Wagner, M.20
Baiget, M.21
Martorell, L.22
Browne, G.B.23
Eymard, B.24
Gourdon, G.25
Junien, C.26
Seznec, H.27
Carey, N.28
Gosling, M.29
Maire, P.30
Gennarelli, M.31
Sato, S.32
Ansved, T.33
Kvist, U.34
Eriksson, M.35
Furling, D.36
Chen, E.J.37
Housman, D.E.38
Luciano, B.39
Siciliano, M.40
Spring, N.41
Shimizu, M.42
Eddy, E.43
Morris, G.E.44
Krahe, R.45
Furuya, H.46
Adelman, J.47
Pribnow, D.48
Furutama, D.49
Mathieu, J.50
Hilton, J.D.51
Kinoshita, M.52
Abbruzzese, C.53
Sinden, R.R.54
Wells, R.D.55
Pearson, C.E.56
Kobayashi, T.57
Johansson, A.58
Salvatori, S.59
Perryman, B.60
Swanson, M.61
Gould, F.K.62
Harris, S.E.63
Johnson, K.64
Mitchell, A.M.65
Monckton, D.G.66
Winchester, C.L.67
Antonini, G.68
Day, J.W.69
Liquori, C.70
Ranum, L.P.W.71
Westerlaken, J.72
Wieringa, B.73
Griffith, J.D.74
Michalowski, S.75
Moore, H.76
Hamshere, M.77
Korade, Z.78
Thornton, C.A.79
Jaeger, H.80
Lehmann, F.81
Moorman, J.R.82
Mounsey, J.P.83
Mahadevan, M.S.84
more..
-
19
-
-
77950434868
-
Myotonic dystrophies 1 and 2: Complex diseases with complex mechanisms
-
Schoser B, Timchenko L (2010) Myotonic dystrophies 1 and 2: complex diseases with complex mechanisms. Curr Genomics11: 77-90.
-
(2010)
Curr Genomics
, vol.11
, pp. 77-90
-
-
Schoser, B.1
Timchenko, L.2
-
20
-
-
33749261633
-
Myotonic Dystrophies Type 1 and 2: A Summary on Current Aspects
-
DOI 10.1016/j.spen.2006.06.002, PII S1071909106000921, Update in Hereditary Childhood Neuromuscular Diseases
-
Schara U, Schoser BGH (2006) Myotonic Dystrophies type 1 and 2 - a summary of current aspects. Semi Pediatr Neurol 13: 71-79. (Pubitemid 44486821)
-
(2006)
Seminars in Pediatric Neurology
, vol.13
, Issue.2
, pp. 71-79
-
-
Schara, U.1
Schoser, B.G.H.2
-
21
-
-
21444450805
-
Clinical and molecular aspects of the myotonic dystrophies: A review
-
DOI 10.1002/mus.20301
-
Machuca-Tzili L, Brook D, Hilton-Jones D (2005) Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve 32: 1-18. (Pubitemid 40917885)
-
(2005)
Muscle and Nerve
, vol.32
, Issue.1
, pp. 1-18
-
-
Machuca-Tzili, L.1
Brook, D.2
Hilton-Jones, D.3
-
22
-
-
0028334933
-
Myotonic dystrophy with no trinucleotide repeat expansion
-
Thornton CA, Griggs RC, Moxley RT 3rd (1994) Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol 35: 269-272. (Pubitemid 24089648)
-
(1994)
Annals of Neurology
, vol.35
, Issue.3
, pp. 269-272
-
-
Thornton, C.A.1
Griggs, R.C.2
Moxley III, R.T.3
-
23
-
-
0027982349
-
Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts
-
Ricker K, Koch MC, Lehmann-Horn F, Pongratz D, Otto M, et al. (1994) Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 44: 1448-1452. (Pubitemid 24247435)
-
(1994)
Neurology
, vol.44
, Issue.8
, pp. 1448-1452
-
-
Ricker, K.1
Koch, M.C.2
Lehmann-Horn, F.3
Pongratz, D.4
Otto, M.5
Heine, R.6
Moxley III, R.T.7
-
24
-
-
0031000214
-
Proximal myotonic dystrophy: A family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: Heterogeneity of proximal myotonic syndromes?
-
Udd B, Krahe R, Wallgren-Pettersson C, Falck B, Kalimo H (1997) Proximal myotonic dystrophy: a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes? Neuromuscul Disord 4: 217-288.
-
(1997)
Neuromuscul Disord
, vol.4
, pp. 217-288
-
-
Udd, B.1
Krahe, R.2
Wallgren-Pettersson, C.3
Falck, B.4
Kalimo, H.5
-
25
-
-
13844310348
-
Proximal myotonic dystrophy mimicking progressive muscular atrophy [2]
-
Rotondo G, Sansone V, Cardani R, Mancinelli E, Krahe R. et al. (2005) Proximal myotonic dystrophy mimicking progressive muscular atrophy. Eur J Neurol 12: 160-161. (Pubitemid 40260738)
-
(2005)
European Journal of Neurology
, vol.12
, Issue.2
, pp. 160-161
-
-
Rotondo, G.1
Sansone, V.2
Cardani, R.3
Mancinelli, E.4
Krahe, R.5
Stangalini, D.6
Meola, G.7
-
26
-
-
0037465516
-
Myotonic dystrophy type 2: Molecular, diagnostic and clinical spectrum
-
Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, et al. (2003) Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology 60: 657-664. (Pubitemid 36246086)
-
(2003)
Neurology
, vol.60
, Issue.4
, pp. 657-664
-
-
Day, J.W.1
Ricker, K.2
Jacobsen, J.F.3
Rasmussen, L.J.4
Dick, K.A.5
Kress, W.6
Schneider, C.7
Koch, M.C.8
Beilman, G.J.9
Harrison, A.R.10
Dalton, J.C.11
Ranum, L.P.W.12
-
27
-
-
0043073111
-
th ENMC workshop: Myotonic dystrophies
-
rd workshop, 14-16 February 2003, Naarden, the Netherlands
-
rd workshop, 14-16 February 2003, Naarden, the Netherlands. Neuromuscul Disord 13: 589-596.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 589-596
-
-
Udd, B.1
Meola, G.2
Krahe, R.3
Thornton, C.4
Ranum, L.5
-
28
-
-
62149097986
-
Premutation allele pool in myotonic dystrophy type 2
-
Bachinsky LL, Czernuszewicz T, Ramagli LS, Suominen T, Shriver MD, et al. (2009) Premutation allele pool in myotonic dystrophy type 2. Neurology 72: 490-497.
-
(2009)
Neurology
, vol.72
, pp. 490-497
-
-
Bachinsky, L.L.1
Czernuszewicz, T.2
Ramagli, L.S.3
Suominen, T.4
Shriver, M.D.5
-
29
-
-
10744219570
-
Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2
-
Vihola A, Bassez G, Meola G, Zhang S, Haapasalo H, et al. (2003) Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2. Neurology 60: 1854-1857. (Pubitemid 36737094)
-
(2003)
Neurology
, vol.60
, Issue.11
, pp. 1854-1857
-
-
Vihola, A.1
Bassez, G.2
Meola, G.3
Zhang, S.4
Haapasalo, H.5
Paetau, A.6
Mancinelli, E.7
Rouche, A.8
Hogrel, J.Y.9
Laforet, P.10
Maisonobe, T.11
Pellissier, J.F.12
Krahe, R.13
Eymard, B.14
Udd, B.15
-
30
-
-
10744226631
-
Muscle pathology in 57 patients with myotonic dystrophy type 2
-
DOI 10.1002/mus.10545
-
Schoser BG, Schneider-Gold C, Kress W, Goebel HH, Reilich P, et al. (2004) Muscle pathology in 57 patients with myotonic dystrophy type 2. Muscle Nerve 29: 275-281. (Pubitemid 38166851)
-
(2004)
Muscle and Nerve
, vol.29
, Issue.2
, pp. 275-281
-
-
Schoser, B.G.H.1
Schneider-Gold, C.2
Kress, W.3
Goebel, H.-H.4
Reilich, P.5
Koch, M.C.6
Pongratz, D.E.7
Toyka, K.V.8
Lochmuller, H.9
Ricker, K.10
-
31
-
-
20444452898
-
Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy
-
DOI 10.1093/hmg/ddi162
-
Ho TH, Bundman D, Armstrong DL, Cooper TA (2005) Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy. Hum Mol Genet 14: 1539-1547. (Pubitemid 40823462)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.11
, pp. 1539-1547
-
-
Ho, T.H.1
Bundman, D.2
Armstrong, D.L.3
Cooper, T.A.4
-
32
-
-
33748311991
-
Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy
-
DOI 10.1038/ng1857, PII NG1857
-
Mahadevan MS, Yadava RS, Yu Q, Balijepalli S, Frenzel-McCardell CD, et al. (2006) Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy. Nat Genet 38: 1066-1070. (Pubitemid 44325934)
-
(2006)
Nature Genetics
, vol.38
, Issue.9
, pp. 1066-1070
-
-
Mahadevan, M.S.1
Yadava, R.S.2
Yu, Q.3
Balijepalli, S.4
Frenzel-Mccardell, C.D.5
Bourne, T.D.6
Phillips, L.H.7
-
33
-
-
79955481821
-
Alternative splicing dysregulation secondary to skeletal muscle regeneration
-
Orengo JP, Ward AJ, Cooper TA (2011) Alternative splicing dysregulation secondary to skeletal muscle regeneration. Ann Neurol 69: 681-690.
-
(2011)
Ann Neurol
, vol.69
, pp. 681-690
-
-
Orengo, J.P.1
Ward, A.J.2
Cooper, T.A.3
-
34
-
-
67650751240
-
Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients
-
Salisbury E, Schoser B, Schneider-Gold C, Wang GL, Huichalaf C, et al. (2009) Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients. Am J Pathol 175: 748-762.
-
(2009)
Am J Pathol
, vol.175
, pp. 748-762
-
-
Salisbury, E.1
Schoser, B.2
Schneider-Gold, C.3
Wang, G.L.4
Huichalaf, C.5
-
35
-
-
33745248133
-
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
-
DOI 10.1093/hmg/ddl132
-
Lin X, Miller JW, Mankodi A, Kanadia RN, Yuan Y, et al. (2006) Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum Mol Genet 15: 2087-2097. (Pubitemid 43923398)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.13
, pp. 2087-2097
-
-
Lin, X.1
Miller, J.W.2
Mankodi, A.3
Kanadia, R.N.4
Yuan, Y.5
Moxley, R.T.6
Swanson, M.S.7
Thornton, C.A.8
-
36
-
-
69749101003
-
Absence of a differentiation defect in muscle satellite cells from DM2 patients
-
Pelletier R, Hamel F, Beaulieu D, Patry L, Haineault C, et al. (2009) Absence of a differentiation defect in muscle satellite cells from DM2 patients. Neurobiol Dis 36: 181-190.
-
(2009)
Neurobiol Dis
, vol.36
, pp. 181-190
-
-
Pelletier, R.1
Hamel, F.2
Beaulieu, D.3
Patry, L.4
Haineault, C.5
-
37
-
-
31644446676
-
n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2)
-
DOI 10.1016/j.bbadis.2005.11.004, PII S0925443905001730
-
Botta A, Caldarola S, Vallo L, Bonifazi E, Fruci D, et al. (2006) Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy II (DM2). Biochem Biophys Acta 1762: 329-334. (Pubitemid 43172848)
-
(2006)
Biochimica et Biophysica Acta - Molecular Basis of Disease
, vol.1762
, Issue.3
, pp. 329-334
-
-
Botta, A.1
Caldarola, S.2
Vallo, L.3
Bonifazi, E.4
Fruci, D.5
Gullotta, F.6
Massa, R.7
Novelli, G.8
Loreni, F.9
-
38
-
-
33744762160
-
DM2 intronic expansions: Evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression
-
DOI 10.1093/hmg/ddl103
-
Margolis JM, Schoser BG, Moseley ML, Day JW, Ranum LPW (2006) DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression. Hum Mol Genet 15: 1808-1815. (Pubitemid 43821771)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.11
, pp. 1808-1815
-
-
Margolis, J.M.1
Schoser, B.G.2
Moseley, M.L.3
Day, J.W.4
Ranum, L.P.W.5
-
39
-
-
67650742030
-
Reduction of the rate of protein translation in patients with myotonic dystrophy 2
-
Huichalaf C, Schoser B, Schneider-Gold C, Jin B, Sarkar P, et al. (2009) Reduction of the rate of protein translation in patients with myotonic dystrophy 2. J Neurosci 29: 9042-9049.
-
(2009)
J Neurosci
, vol.29
, pp. 9042-9049
-
-
Huichalaf, C.1
Schoser, B.2
Schneider-Gold, C.3
Jin, B.4
Sarkar, P.5
-
40
-
-
78650188780
-
Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2
-
Raheem O, Olufemi SE, Bachinski LL, Vihola A, Sirito M, et al. (2010) Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2. Am J Pathol 177: 3025-3036.
-
(2010)
Am J Pathol
, vol.177
, pp. 3025-3036
-
-
Raheem, O.1
Olufemi, S.E.2
Bachinski, L.L.3
Vihola, A.4
Sirito, M.5
-
41
-
-
0036169578
-
Report of the 84th ENMC Workshop: PROMM (Proximal Myotonic Myopathy) and Other Myotonic Dystrophy-Like Syndromes: 2nd Workshop. 13-15th October, 2000, Loosdrecht, The Netherlands
-
DOI 10.1016/S0960-8966(01)00284-X, PII S096089660100284X
-
Moxley 3rd RT, Meola G, Udd B, Ricker K (2002) Report of the 84th ENMC workshop: PROMM (proximal myotonic myopathy) and other myotonic dystrophy-like syndromes: 2nd workshop. 13-15th October 2000, Loosdrecht: The Netherlands. Neuromuscul Disord 12: 306-317. (Pubitemid 34136916)
-
(2002)
Neuromuscular Disorders
, vol.12
, Issue.3
, pp. 306-317
-
-
Moxley III, R.T.1
Meola, G.2
Udd, B.3
Ricker, K.4
-
42
-
-
21744451671
-
Biomolecular identification of (CCTG)n mutation in myotonic dystrophy type 2 (DM2) by FISH on muscle biopsy
-
Cardani R, Mancinelli E, Sansone V, Rotondo G, Meola G (2004) Biomolecular identification of (CCTG)n mutation in myotonic dystrophy type 2 (DM2) by FISH on muscle biopsy. Eur J Histochem 48: 437-442.
-
(2004)
Eur J Histochem
, vol.48
, pp. 437-442
-
-
Cardani, R.1
Mancinelli, E.2
Sansone, V.3
Rotondo, G.4
Meola, G.5
-
43
-
-
4344666094
-
A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2
-
Bonifazi E, Vallo L, Giardina E, Botta A, Novelli G (2004) A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2. Diagn Mol Pathol 13:164-166. (Pubitemid 39121742)
-
(2004)
Diagnostic Molecular Pathology
, vol.13
, Issue.3
, pp. 164-166
-
-
Bonifazi, E.1
Vallo, L.2
Giardina, E.3
Botta, A.4
Novelli, G.5
-
44
-
-
0002609714
-
Muscle biopsy
-
Dubowitz V, editor. Bailliere Tindall, London
-
Dubowitz V (1985) Muscle biopsy. In: Dubowitz V, editor. A practical approach. Bailliere Tindall, London. Pp 19-40.
-
(1985)
A Practical Approach
, pp. 19-40
-
-
Dubowitz, V.1
-
45
-
-
77952375211
-
The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles
-
Massa R, Panico MB, Caldarola S, Fusco FR, Sabatelli P, et al. (2010) The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles. Neuropathol Appl Neurobiol 36: 275-284.
-
(2010)
Neuropathol Appl Neurobiol
, vol.36
, pp. 275-284
-
-
Massa, R.1
Panico, M.B.2
Caldarola, S.3
Fusco, F.R.4
Sabatelli, P.5
-
46
-
-
26444444738
-
2+-ATPase in myotonic dystrophy type 1
-
DOI 10.1093/hmg/ddi223
-
Kimura T, Nakamori M, Lueck JD, Pouliquin P, Aoike F, et al. (2005) Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1. Hum Mol Genet 14: 2189-2200. (Pubitemid 41418018)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.15
, pp. 2189-2200
-
-
Kimura, T.1
Nakamori, M.2
Lueck, J.D.3
Pouliquin, P.4
Aoike, F.5
Fujimura, H.6
Dirksen, R.T.7
Takahashi, M.P.8
Dulhunty, A.F.9
Sakoda, S.10
-
47
-
-
54049141673
-
The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients
-
Botta A, Rinaldi F, Catalli C, Vergani L, Bonifazi E, et al. (2008) The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients. J Med Genet 45: 639-646.
-
(2008)
J Med Genet
, vol.45
, pp. 639-646
-
-
Botta, A.1
Rinaldi, F.2
Catalli, C.3
Vergani, L.4
Bonifazi, E.5
-
48
-
-
40649083064
-
Expanded CTG repeats within the DMPK 3′ UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy
-
DOI 10.1073/pnas.0708519105
-
Orengo JP, Chambon P, Metzger D, Mosier DR, Snipes GJ, et al. (2008) Expanded CTG repeats within the DMPK 3′ UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy. Proc Natl Acad Sci 105: 2646-2651. (Pubitemid 351520567)
-
(2008)
Proceedings of the National Academy of Sciences of the United States of America
, vol.105
, Issue.7
, pp. 2646-2651
-
-
Orengo, J.P.1
Chambon, P.2
Metzger, D.3
Mosier, D.R.4
Snipes, G.J.5
Cooper, T.A.6
-
49
-
-
34548072824
-
Gene expression analysis in myotonic dystrophy: Indications for a common molecular pathogenic pathway in DM1 and DM2
-
DOI 10.3727/000000006781510705
-
Botta A, Vallo L, Rinaldi F, Bonifazi E, Amati F, et al (2007) Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2. Gene Expr 13: 339-351. (Pubitemid 47289407)
-
(2007)
Gene Expression
, vol.13
, Issue.6
, pp. 339-351
-
-
Botta, A.1
Vallo, L.2
Rinaldi, F.3
Bonifazi, E.4
Amati, F.5
Biancolella, M.6
Gambardella, S.7
Mancinelli, E.8
Angelini, C.9
Meola, G.10
Novelli, G.11
-
50
-
-
17344392308
-
A new mathematical model for relative quantification in real-time RT-PCR
-
Pfaffl MW (2001) A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res 29: e45.
-
(2001)
Nucleic Acids Res
, vol.29
-
-
Pfaffl, M.W.1
-
51
-
-
34948834723
-
Increased Steady-State Levels of CUGBP1 in Myotonic Dystrophy 1 Are Due to PKC-Mediated Hyperphosphorylation
-
DOI 10.1016/j.molcel.2007.07.027, PII S1097276507005448
-
Kuyumcu-Martinez NM, Wang GS, Cooper TA (2007) Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. Mol Cell 28: 68-78. (Pubitemid 47531966)
-
(2007)
Molecular Cell
, vol.28
, Issue.1
, pp. 68-78
-
-
Kuyumcu-Martinez, N.M.1
Wang, G.-S.2
Cooper, T.A.3
-
52
-
-
44949120812
-
Ectopic expression of cyclin D3 corrects differentiation of DM1 myoblasts through activation of RNA CUG-binding protein, CUGBP1
-
DOI 10.1016/j.yexcr.2008.04.018, PII S0014482708001754
-
Salisbury E, Sakai K, Schoser B, Huichalaf C, Schnider-Gold C, et al. (2008) Ectopic expression of cyclin D3 corrects differentiation of DM1 myoblasts through activation of RNA CUG-binding protein, CUGBP1. Exp Cell Res 314: 2266-2278. (Pubitemid 351822334)
-
(2008)
Experimental Cell Research
, vol.314
, Issue.11-12
, pp. 2266-2278
-
-
Salisbury, E.1
Sakai, K.2
Schoser, B.3
Huichalaf, C.4
Schneider-Gold, C.5
Nguyen, H.6
Wang, G.-L.7
Albrecht, J.H.8
Timchenko, L.T.9
-
53
-
-
35748965847
-
Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1
-
DOI 10.1093/hmg/ddm239
-
Hino S, Kondo S, Sekiya H, Saito A, Kanemoto S, et al. (2007) Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1. Hum Mol Genet 16: 2834-2843. (Pubitemid 350048382)
-
(2007)
Human Molecular Genetics
, vol.16
, Issue.23
, pp. 2834-2843
-
-
Hino, S.-I.1
Kondo, S.2
Sekiya, H.3
Saito, A.4
Kanemoto, S.5
Murakami, T.6
Chihara, K.7
Aoki, Y.8
Nakamori, M.9
Takahashi, M.P.10
Imaizumi, K.11
-
54
-
-
58149492467
-
A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart
-
Kalsotra A, Xiao X, Ward AJ, Castle JC, Johnson JM, et al. (2008) A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart. Proc Natl Acad Sci USA 105: 20333-20338.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 20333-20338
-
-
Kalsotra, A.1
Xiao, X.2
Ward, A.J.3
Castle, J.C.4
Johnson, J.M.5
-
55
-
-
71049162902
-
MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1
-
Kino Y, Washizu C, Oma Y, Onishi H, Nezu Y, et al. (2009) MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1. Nucleic Acids Res 37: 6477-6490.
-
(2009)
Nucleic Acids Res
, vol.37
, pp. 6477-6490
-
-
Kino, Y.1
Washizu, C.2
Oma, Y.3
Onishi, H.4
Nezu, Y.5
-
56
-
-
59249087922
-
SRp20 and CUG-BP1 modulate insulin receptor exon 11 alternative splicing
-
Sen S, Talukdar I, Webster NJ (2009) SRp20 and CUG-BP1 modulate insulin receptor exon 11 alternative splicing. Mol Cell Biol 29: 871-880.
-
(2009)
Mol Cell Biol
, vol.29
, pp. 871-880
-
-
Sen, S.1
Talukdar, I.2
Webster, N.J.3
-
57
-
-
77955488730
-
Muscleblind-like 1 (Mbnl1) promotes insulin receptor exon 11 inclusion via binding to a downstream evolutionarily conserved intronic enhancer
-
Sen S, Talukdar I, Liu Y, Tam J, Reddy S, et al. (2010) Muscleblind-like 1 (Mbnl1) promotes insulin receptor exon 11 inclusion via binding to a downstream evolutionarily conserved intronic enhancer. J Biol Chem 285: 25426-25437.
-
(2010)
J Biol Chem
, vol.285
, pp. 25426-25437
-
-
Sen, S.1
Talukdar, I.2
Liu, Y.3
Tam, J.4
Reddy, S.5
-
58
-
-
2342461060
-
Myotonic Dystrophy: RNA pathogenesis comes into focus
-
Ranum LW, Day JW (2004) Myotonic Dystrophy: RNA pathogenesis comes into focus. Am J Hum Genet 74: 793-804.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 793-804
-
-
Ranum, L.W.1
Day, J.W.2
-
59
-
-
0026024952
-
The calcium homeostasis and the membrane potential of cultured muscle cells from patients with myotonic dystrophy
-
Jacobs AE, Benders AA, Oosterhof A, Veerkamp JH, van Mier P, et al. (1990) The calcium homeostasis and the membrane potential of cultured muscle cells from patients with myotonic dystrophy. Biochim Biophys Acta 1096: 14-19.
-
(1990)
Biochim Biophys Acta
, vol.1096
, pp. 14-19
-
-
Jacobs, A.E.1
Benders, A.A.2
Oosterhof, A.3
Veerkamp, J.H.4
Van Mier, P.5
-
60
-
-
41949105232
-
Type 2 myotonic dystrophy can be predicted by the combination of type 2 muscle fiber central nucleation and scattered atrophy
-
DOI 10.1097/NEN.0b013e31816b4acc, PII 0000507220080400000006
-
Bassez G, Chapoy E, Bastuji-Garin S, Radvanyi-Hoffman H, Authier FJ, et al (2008) Type 2 myotonic dystrophy can be predicted by the combination of type 2 muscle fiber central nucleation and scattered atrophy. J Neuropathol Exp Neurol 67:319-325. (Pubitemid 351507487)
-
(2008)
Journal of Neuropathology and Experimental Neurology
, vol.67
, Issue.4
, pp. 319-325
-
-
Bassez, G.1
Chapoy, E.2
Bastuji-Garin, S.3
Radvanyi-Hoffman, H.4
Authier, F.-J.5
Pellissier, J.F.6
Eymard, B.7
Gherardi, R.K.8
-
61
-
-
55749099951
-
Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2
-
Pisani V, Panico MB, Terracciano C, Bonifazi E, Meola G, et al (2008) Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2. Muscle Nerve 38: 1405-1411.
-
(2008)
Muscle Nerve
, vol.38
, pp. 1405-1411
-
-
Pisani, V.1
Panico, M.B.2
Terracciano, C.3
Bonifazi, E.4
Meola, G.5
-
62
-
-
84867332225
-
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2
-
Cardani R, Giagnacovo M, Botta A, Rinaldi F, Morgante A, et al. (2012) Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2. J Neurol 259: 2090-2099.
-
(2012)
J Neurol
, vol.259
, pp. 2090-2099
-
-
Cardani, R.1
Giagnacovo, M.2
Botta, A.3
Rinaldi, F.4
Morgante, A.5
-
63
-
-
11044233708
-
Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons
-
DOI 10.1093/hmg/ddh327
-
Jiang H, Mankodi A, Swanson MS, Moxley RT, Thornton CA (2004) Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet 13: 3079-3088. (Pubitemid 40045262)
-
(2004)
Human Molecular Genetics
, vol.13
, Issue.24
, pp. 3079-3088
-
-
Jiang, H.1
Mankodi, A.2
Swanson, M.S.3
Moxley, R.T.4
Thornton, C.A.5
-
64
-
-
33644670784
-
Nuclear RNA foci in the heart in myotonic dystrophy
-
Mankodi A, Lin X, Blaxall BC, Swanson MS, Thornton CA (2005) Nuclear RNA foci in the heart in myotonic dystrophy. Circ Res 97: 1152-1155.
-
(2005)
Circ Res
, vol.97
, pp. 1152-1155
-
-
Mankodi, A.1
Lin, X.2
Blaxall, B.C.3
Swanson, M.S.4
Thornton, C.A.5
-
65
-
-
80053213247
-
Autoregulated Splicing of muscleblind-like 1 (MBNL1) Pre-mRNA
-
Gates DP, Coonrod LA, Berglund JA (2011) Autoregulated Splicing of muscleblind-like 1 (MBNL1) Pre-mRNA. J Biol Chem 286: 34224-34233.
-
(2011)
J Biol Chem
, vol.286
, pp. 34224-34233
-
-
Gates, D.P.1
Coonrod, L.A.2
Berglund, J.A.3
-
66
-
-
1842529234
-
Overexpression of CUG Triplet Repeat-binding Protein, CUGBP1, in Mice Inhibits Myogenesis
-
DOI 10.1074/jbc.M312923200
-
Timchenko NA, Patel R, Iakova P, Cai ZJ, Quan L, et al (2004) Overexpression of CUG triplet repeatbinding protein, CUGBP1, in mice inhibits myogenesis. J Biol Chem 279: 13129-13139. (Pubitemid 38445891)
-
(2004)
Journal of Biological Chemistry
, vol.279
, Issue.13
, pp. 13129-13139
-
-
Timchenko, N.A.1
Patel, R.2
Iakova, P.3
Cai, Z.-J.4
Quan, L.5
Timchenko, L.T.6
-
67
-
-
77956108781
-
CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1
-
Ward AJ, Rimer M, Killian JM, Dowling JJ, Cooper TA (2010) CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1. Hum Mol Gen 19: 3614-3622.
-
(2010)
Hum Mol Gen
, vol.19
, pp. 3614-3622
-
-
Ward, A.J.1
Rimer, M.2
Killian, J.M.3
Dowling, J.J.4
Cooper, T.A.5
-
68
-
-
0346243804
-
A Muscleblind Knockout Model for Myotonic Dystrophy
-
DOI 10.1126/science.1088583
-
Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, et al. (2003) A muscleblind knockout model for myotonic dystrophy. Science 302: 1978-1980. (Pubitemid 37523508)
-
(2003)
Science
, vol.302
, Issue.5652
, pp. 1978-1980
-
-
Kanadia, R.N.1
Johnstone, K.A.2
Mankodi, A.3
Lungu, C.4
Thornton, C.A.5
Esson, D.6
Timmers, A.M.7
Hauswirth, W.W.8
Swanson, M.S.9
-
69
-
-
0023867379
-
Immaturity of muscle fibers in the congenital form of myotonic dystrophy: Its consequences and its origin
-
Farkas-Bargeton E, Barbet JP, Dancea S, Wherle R, Checouri A, et al. (1988) Immaturity of muscle fibers in the congenital form of myotonic dystrophy: its consequences and its origin. J Neurol Sci 83: 145-159. (Pubitemid 18043008)
-
(1988)
Journal of the Neurological Sciences
, vol.83
, Issue.2-3
, pp. 145-159
-
-
Farkas-Bargeton, E.1
Barbet, J.P.2
Dancea, S.3
Wehrle, R.4
Checouri, A.5
Dulac, O.6
-
70
-
-
0017195462
-
Maturational arrest of fetal muscle in neonatal myotonic dystrophy. A pathologic study of four cases
-
Sarnat HB, Silbert SW (1976) Maturational arrest of fetal muscle in neonatal myotonic dystrophy. A pathologic study of four cases. Arch Neurol 33: 466-474.
-
(1976)
Arch Neurol
, vol.33
, pp. 466-474
-
-
Sarnat, H.B.1
Silbert, S.W.2
-
71
-
-
0023232637
-
Congenital myotonic dystrophy. Changes in muscle pathology with ageing
-
DOI 10.1016/0022-510X(87)90206-1
-
Tanabe Y, Nonaka I (1987) Congenital myotonic dystrophy. Changes in muscle pathology with ageing. J Neurol Sci 77: 59-68. (Pubitemid 17207624)
-
(1987)
Journal of the Neurological Sciences
, vol.77
, Issue.1
, pp. 59-68
-
-
Tanabe, Y.1
Nonaka, I.2
-
72
-
-
33947321525
-
-/- mice is associated with multiorgan abnormalities resembling myotonic dystrophy
-
-/- mice is associated with multiorgan abnormalities resembling myotonic dystrophy. J Mol Biol 368: 8-17.
-
(2007)
J Mol Biol
, vol.368
, pp. 8-17
-
-
Chen, W.1
Wang, Y.2
Abe, Y.3
Cheney, L.4
Udd, B.5
-
73
-
-
0035852861
-
Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy
-
Mathieu J, Boivin H, Meunier D, Gaudreault M, Bégin P (2001) Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy. Neurology 56: 336-340. (Pubitemid 32144144)
-
(2001)
Neurology
, vol.56
, Issue.3
, pp. 336-340
-
-
Mathieu, J.1
Boivin, H.2
Meunier, D.3
Gaudreault, M.4
Begin, P.5
|