-
1
-
-
0032005627
-
Impaired cerebral glucose metabolism in myotonic dystrophy: A triplet-size dependent phenomenon
-
Annane, D., Fiorelli, M., Mazoyer, B., Pappata, S., Eymard, B., Radvanyi, H., Junien, C., Fardeau, M., Merlet, P., Gajdos, P., Syrota, A., Sansom, Y. and Duboc, D. (1998) Impaired cerebral glucose metabolism in myotonic dystrophy: a triplet-size dependent phenomenon. Neuromuscul. Disord. 8; 39-45.
-
(1998)
Neuromuscul. Disord
, vol.8
, pp. 39-45
-
-
Annane, D.1
Fiorelli, M.2
Mazoyer, B.3
Pappata, S.4
Eymard, B.5
Radvanyi, H.6
Junien, C.7
Fardeau, M.8
Merlet, P.9
Gajdos, P.10
Syrota, A.11
Sansom, Y.12
Duboc, D.13
-
2
-
-
0032014599
-
Myotonic dystrophy as a brain disorder
-
Ashizawa, T. (1998) Myotonic dystrophy as a brain disorder. Arch. Neurol. 55; 291-293.
-
(1998)
Arch. Neurol
, vol.55
, pp. 291-293
-
-
Ashizawa, T.1
-
3
-
-
0026567370
-
Cloning of the essential myotonic dystrophy region and mapping of the putative defect
-
Aslanidis, C., Jansen, G., Amemiya, C., Shutler, G., Mahadevan, M., Tsilfidis, C., Chen, C., Alleman, J., Wormskamp, N. G., Vooijs, M., Buxton, J., Johnson, K., Smeets, H. J. M., Lennon, G. G., Carrano, A. V., Korneluk, K. G., Wieringa, B. and de Jong, P. J. (1992) Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 355; 548-551.
-
(1992)
Nature
, vol.355
, pp. 548-551
-
-
Aslanidis, C.1
Jansen, G.2
Amemiya, C.3
Shutler, G.4
Mahadevan, M.5
Tsilfidis, C.6
Chen, C.7
Alleman, J.8
Wormskamp, N.G.9
Vooijs, M.10
Buxton, J.11
Johnson, K.12
Smeets, H.J.M.13
Lennon, G.G.14
Carrano, A.V.15
Korneluk, K.G.16
Wieringa, B.17
de Jong, P.J.18
-
4
-
-
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, J. D., McCurrach, M. E., Harley, H. G., Buckler, A. J., Church, D., Aburatani, H., Hunter, K., Stanton, V. P., Thirion, J. P., Hudson, T., Sohn, R., Zemelman, B., Snell, R. G., Rundle, S. A., Crow, S., Davies, J., Shelbourne, P., Buxton, J., Jones, C., Juvonen, V., Johnson, K., Harper, P. S., Shaw, D. J. and Housman, D. E. (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 68; 799-808.
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
McCurrach, M.E.2
Harley, H.G.3
Buckler, A.J.4
Church, D.5
Aburatani, H.6
Hunter, K.7
Stanton, V.P.8
Thirion, J.P.9
Hudson, T.10
Sohn, R.11
Zemelman, B.12
Snell, R.G.13
Rundle, S.A.14
Crow, S.15
Davies, J.16
Shelbourne, P.17
Buxton, J.18
Jones, C.19
Juvonen, V.20
Johnson, K.21
Harper, P.S.22
Shaw, D.J.23
Housman, D.E.24
more..
-
5
-
-
0030841672
-
Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts
-
Davis, B. M., McCurrach, M. E., Taneje, K. L., Singer, R. H. and Housman, D. E. (1997) Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. Proc. Natl. Acad. Sci. U S A 94; 7388-7393.
-
(1997)
Proc. Natl. Acad. Sci. U S A
, vol.94
, pp. 7388-7393
-
-
Davis, B.M.1
McCurrach, M.E.2
Taneje, K.L.3
Singer, R.H.4
Housman, D.E.5
-
6
-
-
16344382059
-
Genetics and molecular pathogenesis of the myotonic dystrophies
-
Day, J. W. and Ranum, L. P. (2005) Genetics and molecular pathogenesis of the myotonic dystrophies. Curr. Neurol. Neurosci. Rep. 5; 55-59.
-
(2005)
Curr. Neurol. Neurosci. Rep
, vol.5
, pp. 55-59
-
-
Day, J.W.1
Ranum, L.P.2
-
7
-
-
41349110876
-
Overexpression of MBNL1 fetal isoforms and modified splicing of Tau in the DM1 brain: Two individual consequences of CUG trinucleotide repeats
-
Dhaenens, C. M., Schraen-Maschke, S., Tran, H., Vingtdeux, V., Ghanem, D., Leroy, O., Delplanque, J., Vanbrussel, E., Delacourte, A., Vermersch, P., Maurage, C. A., Gruffat, H., Sergeant, A., Mahadevan, M. S., Ishiura, S., Buée, L., Cooper, T. A., Caillet-Boudin, M. L., Charlet-Berguerand, N., Sablonnière, B. and Sergeant, N. (2008) Overexpression of MBNL1 fetal isoforms and modified splicing of Tau in the DM1 brain: Two individual consequences of CUG trinucleotide repeats. Exp. Neurol. 210; 467-478.
-
(2008)
Exp. Neurol
, vol.210
, pp. 467-478
-
-
Dhaenens, C.M.1
Schraen-Maschke, S.2
Tran, H.3
Vingtdeux, V.4
Ghanem, D.5
Leroy, O.6
Delplanque, J.7
Vanbrussel, E.8
Delacourte, A.9
Vermersch, P.10
Maurage, C.A.11
Gruffat, H.12
Sergeant, A.13
Mahadevan, M.S.14
Ishiura, S.15
Buée, L.16
Cooper, T.A.17
Caillet-Boudin, M.L.18
Charlet-Berguerand, N.19
Sablonnière, B.20
Sergeant, N.21
more..
-
8
-
-
0035743326
-
Dilated Virchow-Robin spaces in myotonic dystrophy: Frequency, extent and significance
-
Di Costanzo, A., Di Salle, F., Santoro, L., Bonavita, V. and Tedeschi, G. (2001) Dilated Virchow-Robin spaces in myotonic dystrophy: frequency, extent and significance. Eur. Neurol. 46; 131-139.
-
(2001)
Eur. Neurol
, vol.46
, pp. 131-139
-
-
Di Costanzo, A.1
Di Salle, F.2
Santoro, L.3
Bonavita, V.4
Tedeschi, G.5
-
9
-
-
0036037766
-
Pattern and significance of white matter abnormalities in myotonic dystrophy type 1: An MRI study
-
Di Costanzo, A., Di Salle, F., Santoro, L., Tessitore, A., Bonavita, V. and Tedeschi, G. (2002) Pattern and significance of white matter abnormalities in myotonic dystrophy type 1: an MRI study. J. Neurol. 249; 1175-1182.
-
(2002)
J. Neurol
, vol.249
, pp. 1175-1182
-
-
Di Costanzo, A.1
Di Salle, F.2
Santoro, L.3
Tessitore, A.4
Bonavita, V.5
Tedeschi, G.6
-
10
-
-
0346373752
-
RNA leaching of transcription factors disrupts transcription in myotonic dystrophy
-
Ebralidze, A., Wang, Y., Pertkova, V., Ebralidse, K. and Junghans, R. P. (2004) RNA leaching of transcription factors disrupts transcription in myotonic dystrophy. Science 303; 383-387.
-
(2004)
Science
, vol.303
, pp. 383-387
-
-
Ebralidze, A.1
Wang, Y.2
Pertkova, V.3
Ebralidse, K.4
Junghans, R.P.5
-
11
-
-
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, M. T., Thorpe, H. M., Larkin, K., Hamshere, M. G., Harper, P. S. and Brook, J. D. (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.
-
(2002)
Hum. Mol. Genet
, vol.11
, 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
-
12
-
-
0026567050
-
Decreased cerebral glucose utilization in myotonic dyatrophy
-
Fiorelli, M., Duboc, D., Mazoyer, B. M., Blin, J., Eymard, B., Fardeau, M. and Samson, Y. (1992) Decreased cerebral glucose utilization in myotonic dyatrophy. Neurology 42; 91-94.
-
(1992)
Neurology
, vol.42
, pp. 91-94
-
-
Fiorelli, M.1
Duboc, D.2
Mazoyer, B.M.3
Blin, J.4
Eymard, B.5
Fardeau, M.6
Samson, Y.7
-
13
-
-
0023855393
-
Central nervous system magnetic resonance imaging findings in myotonic dystrophy
-
Glantz, R. H., Wright, R. B., Huckman, M. S., Garron, D. C. and Siegel, I. M. (1998) Central nervous system magnetic resonance imaging findings in myotonic dystrophy. Arch. Neurol. 45; 36-37.
-
(1998)
Arch. Neurol
, vol.45
, pp. 36-37
-
-
Glantz, R.H.1
Wright, R.B.2
Huckman, M.S.3
Garron, D.C.4
Siegel, I.M.5
-
14
-
-
20444452898
-
Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy
-
Ho, T. H., Bundman, D., Armstrong, D. L. and Cooper, T. A. (2005) Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy. Hum. Mol. Genet. 14; 1539-1547.
-
(2005)
Hum. Mol. Genet
, vol.14
, pp. 1539-1547
-
-
Ho, T.H.1
Bundman, D.2
Armstrong, D.L.3
Cooper, T.A.4
-
15
-
-
11044233708
-
Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons
-
Jiang, H., Mankodi, A., Swanson, M. S., Moxley, R. T. and Thornton, C. A. (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.
-
(2004)
Hum. Mol. Genet
, vol.13
, pp. 3079-3088
-
-
Jiang, H.1
Mankodi, A.2
Swanson, M.S.3
Moxley, R.T.4
Thornton, C.A.5
-
16
-
-
0032840456
-
Elongation of (CTG)n repeats in myotonic dystrophy protein kinase gene in tumors associated with myotonic dystrophy patients
-
Jinnai, K., Sugio, T., Mitani, M., Hashimoto, K. and Takahashi, K. (1999) Elongation of (CTG)n repeats in myotonic dystrophy protein kinase gene in tumors associated with myotonic dystrophy patients. Muscle Nerve 22; 1271-1274
-
(1999)
Muscle Nerve
, vol.22
, pp. 1271-1274
-
-
Jinnai, K.1
Sugio, T.2
Mitani, M.3
Hashimoto, K.4
Takahashi, K.5
-
17
-
-
20444464014
-
Cytoplasmic and nuclear retained DMPK mRNAs are targets for RNA interference in myotonic dystrophy cells
-
Langlois, M.-A., Boniface, C., Wang, G., Alluin, J., Salvaterra, P. M., Puymirat, J., Rossi, J. J. and Lee, N. S. (2005) Cytoplasmic and nuclear retained DMPK mRNAs are targets for RNA interference in myotonic dystrophy cells. J. Biol. Chem. 280; 16949-16954.
-
(2005)
J. Biol. Chem
, vol.280
, pp. 16949-16954
-
-
Langlois, M.-A.1
Boniface, C.2
Wang, G.3
Alluin, J.4
Salvaterra, P.M.5
Puymirat, J.6
Rossi, J.J.7
Lee, N.S.8
-
18
-
-
33748529021
-
ETR-3 repress tau exons 2/3 inclusion, a splicing event abnormally enhanced in myotonic dystrophy type 1
-
Leroy, O., Dhaenens, C. M., Schraen-Maschke, S., Belarbi, K., Delacourte, A., Andreadis, A., Sablonnière, B., Buée, L., Sergeant, N. and Caillet-Boudin, M. L. (2006) ETR-3 repress tau exons 2/3 inclusion, a splicing event abnormally enhanced in myotonic dystrophy type 1. J. Neurosci. Res. 84; 852-859.
-
(2006)
J. Neurosci. Res
, vol.84
, pp. 852-859
-
-
Leroy, O.1
Dhaenens, C.M.2
Schraen-Maschke, S.3
Belarbi, K.4
Delacourte, A.5
Andreadis, A.6
Sablonnière, B.7
Buée, L.8
Sergeant, N.9
Caillet-Boudin, M.L.10
-
19
-
-
33644779759
-
Brain-specific change in alternative splicing of Tau exon 6 in myotonic dystrophy type 1
-
Leroy, O., Wang, J., Maurage, C. A., Parent, M., Cooper, T. A., Buée, L., Sergeant, N., Andreadis, A. and Caillet-Boudin, M. L.(2006) Brain-specific change in alternative splicing of Tau exon 6 in myotonic dystrophy type 1. Biochim. Biophys. Acta 1762; 460-467.
-
(2006)
Biochim. Biophys. Acta
, vol.1762
, pp. 460-467
-
-
Leroy, O.1
Wang, J.2
Maurage, C.A.3
Parent, M.4
Cooper, T.A.5
Buée, L.6
Sergeant, N.7
Andreadis, A.8
Caillet-Boudin, M.L.9
-
20
-
-
0033595470
-
Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic myopathy
-
Meola, G., Sansone, V., Perani, D., Colleluori, A., Cappa, S., Cotelli, M., Fazio, F., Thornton, C. A. and Moxley, R. T. (1999) Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic myopathy. Neurology 53; 1042-1050.
-
(1999)
Neurology
, vol.53
, pp. 1042-1050
-
-
Meola, G.1
Sansone, V.2
Perani, D.3
Colleluori, A.4
Cappa, S.5
Cotelli, M.6
Fazio, F.7
Thornton, C.A.8
Moxley, R.T.9
-
21
-
-
34548207303
-
Cerebral involvement in myotonic dystrophies
-
Meola, G. and Sansone, V. (2007) Cerebral involvement in myotonic dystrophies. Muscle Nerve 36; 294-306.
-
(2007)
Muscle Nerve
, vol.36
, pp. 294-306
-
-
Meola, G.1
Sansone, V.2
-
22
-
-
0034282958
-
Recruitment of human muscleblind proteins to (CUG)n expansions associated with myotonic dystrophy
-
Miller, J. W., Urbinati, C. R., Teng-umnuay, P., Stenberg, M. G., Byrne, B. J., Thornton, C. A. and Swanson, M. S. (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
Thornton, C.A.6
Swanson, M.S.7
-
23
-
-
0032963925
-
An autopsy case of myotonic dystrophy with mental disorders and various neuropathological features
-
Mizukami, K., Sasaki, M., Baba, A., Suzuki, T. and Shiraishi, H. (1999) An autopsy case of myotonic dystrophy with mental disorders and various neuropathological features. Psychiatry Clin. Neurosci. 53; 51-55.
-
(1999)
Psychiatry Clin. Neurosci
, vol.53
, pp. 51-55
-
-
Mizukami, K.1
Sasaki, M.2
Baba, A.3
Suzuki, T.4
Shiraishi, H.5
-
24
-
-
0031847991
-
Anterior temporal white matter lesions in myotonic dystrophy with intellectual impairment: An MRI and neuropathological study
-
Ogata, A., Terae, S., Fujita, M. and Tashiro, K. (1998) Anterior temporal white matter lesions in myotonic dystrophy with intellectual impairment: An MRI and neuropathological study. Neuroradiology 40; 411-415.
-
(1998)
Neuroradiology
, vol.40
, pp. 411-415
-
-
Ogata, A.1
Terae, S.2
Fujita, M.3
Tashiro, K.4
-
25
-
-
0030245791
-
Immunohistochemical study of intracytoplasmic inclusion bodies of the thalamus in myotonic dystrophy
-
Ono, S., Takahashi, K., Kanda, F., Fukuoka, Y., Jinnai, K., Kurisaki, H., Mitake, S., Inagaki, T. and Nagao, K. (1996) Immunohistochemical study of intracytoplasmic inclusion bodies of the thalamus in myotonic dystrophy. J. Neurol. Sci. 140; 96-100.
-
(1996)
J. Neurol. Sci
, vol.140
, pp. 96-100
-
-
Ono, S.1
Takahashi, K.2
Kanda, F.3
Fukuoka, Y.4
Jinnai, K.5
Kurisaki, H.6
Mitake, S.7
Inagaki, T.8
Nagao, K.9
-
26
-
-
0029976754
-
Neuronal loss in the medullary reticular formation in myotonic dystrophy. A clinicopathological study
-
Ono, S., Kanda, F., Takahashi, K., Fukuoka, Y., Jinnai, K., Kurisaki, H., Mitake, S., Inagaki, T. and Nagao, K. (1996) Neuronal loss in the medullary reticular formation in myotonic dystrophy. A clinicopathological study. Neurology 46; 228-231.
-
(1996)
Neurology
, vol.46
, pp. 228-231
-
-
Ono, S.1
Kanda, F.2
Takahashi, K.3
Fukuoka, Y.4
Jinnai, K.5
Kurisaki, H.6
Mitake, S.7
Inagaki, T.8
Nagao, K.9
-
27
-
-
0034901889
-
Decrease of neurons in the medullary arcuate nucleus in myotonic dystrophy
-
Ono, S., Takahashi, K., Kanda, F., Jinnai, K., Fukuoka, Y., Mitake, S., Inagaki, T., Kurisaki, H., Nagao, K. and Shimizu, N.(2001) Decrease of neurons in the medullary arcuate nucleus in myotonic dystrophy. Acta Neuropathol. 102; 89-93.
-
(2001)
Acta Neuropathol
, vol.102
, pp. 89-93
-
-
Ono, S.1
Takahashi, K.2
Kanda, F.3
Jinnai, K.4
Fukuoka, Y.5
Mitake, S.6
Inagaki, T.7
Kurisaki, H.8
Nagao, K.9
Shimizu, N.10
-
28
-
-
33645525579
-
Neurofibrillary tangles and deposition of oxidative products in the brain in cases of myotonic dystrophy
-
Oyamada, R., Hayashi, M., Katoh, Y., Tsuchiya, K., Mizutani, T., Tominaga, I. and Kashima, H. (2006) Neurofibrillary tangles and deposition of oxidative products in the brain in cases of myotonic dystrophy. Neuropathology 26; 107-114.
-
(2006)
Neuropathology
, vol.26
, pp. 107-114
-
-
Oyamada, R.1
Hayashi, M.2
Katoh, Y.3
Tsuchiya, K.4
Mizutani, T.5
Tominaga, I.6
Kashima, H.7
-
29
-
-
0013977481
-
Mental deficiency associated with muscular dystrophy. A neuropathological study
-
Rosman, N. P. and Kakulas, B. A. (1996) Mental deficiency associated with muscular dystrophy. A neuropathological study. Brain 89; 769-787.
-
(1996)
Brain
, vol.89
, pp. 769-787
-
-
Rosman, N.P.1
Kakulas, B.A.2
-
30
-
-
0034782506
-
Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1
-
Sergeant, N., Sablonnière, B., Schraen-Maschke, S., Ghestem, A., Maurage, C. A., Wattez, A., Vermersch, P. and Delacourte, A. (2001) Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1. Hum. Mol. Genet. 10; 2143-2155.
-
(2001)
Hum. Mol. Genet
, vol.10
, pp. 2143-2155
-
-
Sergeant, N.1
Sablonnière, B.2
Schraen-Maschke, S.3
Ghestem, A.4
Maurage, C.A.5
Wattez, A.6
Vermersch, P.7
Delacourte, A.8
-
31
-
-
0035510133
-
Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities
-
Seznec, H., Agbulut, O., Sergeant, N., Savouret, C., Ghestem, A., Tabti, N., Willer, J.-C., Ourth, L., Duros, C., Brisson, E., Fouquet, C., Butler-Browne, G., Delacourte, A., Junien, C. and Gourdon, G. (2001) Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. Hum. Mol. Genet. 10; 2717-2726.
-
(2001)
Hum. Mol. Genet
, vol.10
, pp. 2717-2726
-
-
Seznec, H.1
Agbulut, O.2
Sergeant, N.3
Savouret, C.4
Ghestem, A.5
Tabti, N.6
Willer, J.-C.7
Ourth, L.8
Duros, C.9
Brisson, E.10
Fouquet, C.11
Butler-Browne, G.12
Delacourte, A.13
Junien, C.14
Gourdon, G.15
-
32
-
-
0028947317
-
Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues
-
Taneja, K. L., McCurrach, M., Schalling, M., Housman, D. and Singer, R. H. (1995) Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J. Cell. Biol. 128; 995-1002.
-
(1995)
J. Cell. Biol
, vol.128
, pp. 995-1002
-
-
Taneja, K.L.1
McCurrach, M.2
Schalling, M.3
Housman, D.4
Singer, R.H.5
-
33
-
-
0033983537
-
Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR
-
Tian, B., White, R. J., Xia, T., Welle, S., Turner, D. H., Mathews, M. B. and Thornton, C. A. (2000) Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR. RNA 6; 79-87.
-
(2000)
RNA
, vol.6
, pp. 79-87
-
-
Tian, B.1
White, R.J.2
Xia, T.3
Welle, S.4
Turner, D.H.5
Mathews, M.B.6
Thornton, C.A.7
-
34
-
-
0029822936
-
Specific tau variants in the brains of patients with myotonic dystrophy
-
Vermersch, P., Sergeant, N., Ruchoux, M. M., Hofmann-Radvavyi, H., Wattez, A., Petit, H., Dwailly, P. and Delacourte, A. (1996) Specific tau variants in the brains of patients with myotonic dystrophy. Neurology 47; 711-717.
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(1996)
Neurology
, vol.47
, pp. 711-717
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Vermersch, P.1
Sergeant, N.2
Ruchoux, M.M.3
Hofmann-Radvavyi, H.4
Wattez, A.5
Petit, H.6
Dwailly, P.7
Delacourte, A.8
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