-
1
-
-
0034671216
-
A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro
-
Alekov, A.; Rahman, M. M.; Mitrovic, N.; Lehmann-Horn, F.; Lerche, H. A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro. J. Physiol. 529:533-539; 2000.
-
(2000)
J. Physiol
, vol.529
, pp. 533-539
-
-
Alekov, A.1
Rahman, M.M.2
Mitrovic, N.3
Lehmann-Horn, F.4
Lerche, H.5
-
2
-
-
0029985323
-
Ion transport in human skeletal muscle cells: Disturbances in myotonic dystrophy and Brody's disease
-
Benders, A. A. G. M.; Wevers, R. A.; Veerkamp, J. H. Ion transport in human skeletal muscle cells: Disturbances in myotonic dystrophy and Brody's disease. Acta Physiol. Scand. 156:355-367; 1996.
-
(1996)
Acta Physiol. Scand
, vol.156
, pp. 355-367
-
-
Benders, A.A.G.M.1
Wevers, R.A.2
Veerkamp, J.H.3
-
4
-
-
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. A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2. Diagn. Mol. Pathol. 13:164-166; 2004.
-
(2004)
Diagn. Mol. Pathol
, vol.13
, pp. 164-166
-
-
Bonifazi, E.1
Vallo, L.2
Giardina, E.3
Botta, A.4
Novelli, G.5
-
5
-
-
31644446676
-
Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2)
-
Botta, A.; Caldarola, S.; Vallo, L.; Bonifazi, E.; Fruci, D.; Gullotta, F.; Massa, R.; Novelli, G.; Loreni, F. Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2). Biochim. Biophys. Acta 1762:329-334; 2006.
-
(2006)
Biochim. Biophys. Acta
, vol.1762
, 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
-
6
-
-
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.; et al. 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.
-
(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
-
7
-
-
0037106539
-
Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells
-
Buj-Bello, A.; Furling, D.; Tronchere, H.; La Porte, J.; Lerouge, T.; Butler-Browne, G. S.; Mandle, J. L. Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. Hum. Mol. Genet. 11:2297-2307; 2002.
-
(2002)
Hum. Mol. Genet
, vol.11
, pp. 2297-2307
-
-
Buj-Bello, A.1
Furling, D.2
Tronchere, H.3
La Porte, J.4
Lerouge, T.5
Butler-Browne, G.S.6
Mandle, J.L.7
-
8
-
-
0027372107
-
Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy
-
Carango, P.; Noble, J. E.; Marks, H. G.; Funanage, V. L. Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy. Genomics 18:340-348; 1993.
-
(1993)
Genomics
, vol.18
, pp. 340-348
-
-
Carango, P.1
Noble, J.E.2
Marks, H.G.3
Funanage, V.L.4
-
9
-
-
0036347927
-
Loss of the muscle-specific chloride channel in type1 myotonic dystrophy due to misregulated alternative splicing
-
Charlet, B. N.; Savkur, R. S.; Singh, G.; Philips, A. V.; Grice, E. A.; Cooper, T. A. Loss of the muscle-specific chloride channel in type1 myotonic dystrophy due to misregulated alternative splicing. Mol. Cell 10:45-53; 2002.
-
(2002)
Mol. Cell
, vol.10
, pp. 45-53
-
-
Charlet, B.N.1
Savkur, R.S.2
Singh, G.3
Philips, A.V.4
Grice, E.A.5
Cooper, T.A.6
-
10
-
-
0032995065
-
Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)
-
Day, J. W.; Roelefs, R.; Leroy, B.; Pech, I.; Benzow, K.; Ranum, L. P. Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). Neuromuscul. Disord. 9:19-27; 1999.
-
(1999)
Neuromuscul. Disord
, vol.9
, pp. 19-27
-
-
Day, J.W.1
Roelefs, R.2
Leroy, B.3
Pech, I.4
Benzow, K.5
Ranum, L.P.6
-
11
-
-
15044354661
-
RNA pathogenesis of the myotonic dystrophies
-
Day, J. W.; Ranum, L. P. RNA pathogenesis of the myotonic dystrophies. Neuromuscul. Disord. 15:5-16; 2005.
-
(2005)
Neuromuscul. Disord
, vol.15
, pp. 5-16
-
-
Day, J.W.1
Ranum, L.P.2
-
12
-
-
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. 69:358-367; 1982.
-
(1982)
J. Clin. Invest
, vol.69
, pp. 358-367
-
-
Desnuelle, C.1
Lombet, A.2
Serratrice, G.3
Lazdunski, M.4
-
13
-
-
0031559959
-
Tissue-specific transcription pattern of the adenine nucleotide translocase isoforms in humans
-
Doerner, A.; Pauschinger, M.; Badorff, A.; Noutsias, M.; Giessen, S.; Schulze, K.; Bilger, J.; Rauch, U.; Schultheiss, H. P. Tissue-specific transcription pattern of the adenine nucleotide translocase isoforms in humans. FEBS Lett. 414:258-262; 1997.
-
(1997)
FEBS Lett
, vol.414
, pp. 258-262
-
-
Doerner, A.1
Pauschinger, M.2
Badorff, A.3
Noutsias, M.4
Giessen, S.5
Schulze, K.6
Bilger, J.7
Rauch, U.8
Schultheiss, H.P.9
-
14
-
-
0028104051
-
Phosphorylation reactions of recombinant human myotonic dystrophy protein kinase and their inhibition
-
Dunne, P. W.; Walch, E. T.; Epstein, H. F. Phosphorylation reactions of recombinant human myotonic dystrophy protein kinase and their inhibition. Biochemistry 33:10809-10814; 1994.
-
(1994)
Biochemistry
, vol.33
, pp. 10809-10814
-
-
Dunne, P.W.1
Walch, E.T.2
Epstein, H.F.3
-
15
-
-
0346373752
-
RNA leaching of transcription factors disrupts transcription in myotonic dystrophy
-
Ebralidze, A.; Wang, Y.; Petkova, V.; Ebralidse, R.; Junhans, R. P. RNA leaching of transcription factors disrupts transcription in myotonic dystrophy. Science 303:383-387; 2004.
-
(2004)
Science
, vol.303
, pp. 383-387
-
-
Ebralidze, A.1
Wang, Y.2
Petkova, V.3
Ebralidse, R.4
Junhans, R.P.5
-
16
-
-
0024430983
-
Intracellular elemental composition of single muscle fibres in muscular dystrophy and dystrophia myotonica
-
Edstrom, L.; Wroblewski, R. Intracellular elemental composition of single muscle fibres in muscular dystrophy and dystrophia myotonica. Acta Neurol. Scand. 80:419-424; 1989.
-
(1989)
Acta Neurol. Scand
, vol.80
, pp. 419-424
-
-
Edstrom, L.1
Wroblewski, R.2
-
17
-
-
0035394801
-
In vivo colocalisation of MBNL protein with DMPK expanded-repeat transcripts
-
Fardaei, M.; Larkin, K.; Brook, J. D.; Hamshere, M. G. In vivo colocalisation of MBNL protein with DMPK expanded-repeat transcripts. Nucleic Acids Res. 29:2766-2771; 2001.
-
(2001)
Nucleic Acids Res
, vol.29
, pp. 2766-2771
-
-
Fardaei, M.1
Larkin, K.2
Brook, J.D.3
Hamshere, M.G.4
-
18
-
-
0036537492
-
Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1and DM2 cells
-
Fardaei, M.; Rogers, M. T.; Thorpe, H. M.; Larkin, K.; Hamshere, M. G.; Harper, P. S.; Brook, J. D. Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1and DM2 cells. Hum. Mol. Genet. 11:805-814; 2002.
-
(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
-
19
-
-
0025314128
-
- conductance in resealed muscle fibre segments from patients with myotonic dystrophy
-
- conductance in resealed muscle fibre segments from patients with myotonic dystrophy. J. Physiol. 425:391-405; 1990.
-
(1990)
J. Physiol
, vol.425
, pp. 391-405
-
-
Franke, C.1
Hatt, H.2
Iaizzo, P.A.3
Lehmann-Horn, F.4
-
20
-
-
0026598119
-
An unstable triplet repeat in a gene related to myotonic muscular dystrophy
-
Fu, Y. H.; Pizzuti, A.; Fenwick, Jr., R. G.; King, J.; Rajnarayan, S.; Dunne, P. W.; Dubel, J.; Nasser, G. A.; Ashizawa, T.; De Jong, P.; et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255:1256-1258; 1992.
-
(1992)
Science
, vol.255
, pp. 1256-1258
-
-
Fu, Y.H.1
Pizzuti, A.2
Fenwick Jr., R.G.3
King, J.4
Rajnarayan, S.5
Dunne, P.W.6
Dubel, J.7
Nasser, G.A.8
Ashizawa, T.9
De Jong, P.10
-
21
-
-
0027246344
-
Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy
-
Fu, Y. H.; Friedman, D. L.; Richards, S.; Pearlman, J. A.; Gibbs, R. A.; Pizzuti, A.; Ashizawa, T.; Perryman, M. B.; Scarlato, G.; Fenwick, Jr., R. G.; et al. Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science 260:235-238; 1993.
-
(1993)
Science
, vol.260
, pp. 235-238
-
-
Fu, Y.H.1
Friedman, D.L.2
Richards, S.3
Pearlman, J.A.4
Gibbs, R.A.5
Pizzuti, A.6
Ashizawa, T.7
Perryman, M.B.8
Scarlato, G.9
Fenwick Jr., R.G.10
-
22
-
-
0031783721
-
A single polymerase chain reaction protocol for detecting normal and expanded alleles in myotonic dystrophy
-
Gennarelli, M.; Pavoni, M.; Amicucci, P.; Novelli, G.; Dallapiccola, B. A single polymerase chain reaction protocol for detecting normal and expanded alleles in myotonic dystrophy. Diagn. Mol. Pathol. 7:135-137; 1998.
-
(1998)
Diagn. Mol. Pathol
, vol.7
, pp. 135-137
-
-
Gennarelli, M.1
Pavoni, M.2
Amicucci, P.3
Novelli, G.4
Dallapiccola, B.5
-
23
-
-
0018359721
-
Electrophysiologic properties of intercostal muscle fibers in human neuromuscular diseases
-
Gruener, R.; Stern, L. Z.; Markovitz, D.; Gerdes, C. Electrophysiologic properties of intercostal muscle fibers in human neuromuscular diseases. Muscle Nerve 2:165-172; 1979.
-
(1979)
Muscle Nerve
, vol.2
, pp. 165-172
-
-
Gruener, R.1
Stern, L.Z.2
Markovitz, D.3
Gerdes, C.4
-
25
-
-
20444452898
-
Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy
-
Ho, T. H.; Bundman, D.; Armstrong, D. L.; Cooper, T. A. Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy. Hum. Mol. Genet. 14:1539-1547; 2005.
-
(2005)
Hum. Mol. Genet
, vol.14
, pp. 1539-1547
-
-
Ho, T.H.1
Bundman, D.2
Armstrong, D.L.3
Cooper, T.A.4
-
26
-
-
0026024952
-
The calcium homeostasis and the membrane potential of cultured muscle cells from patients with myotonic dystrophy
-
Jacobs, A. E.; Benders, A. A.; Oosterhof, A.; Veerkamp, J. H.; van Mier, P.; Wevers, R. A.; Joosten, E. M. The calcium homeostasis and the membrane potential of cultured muscle cells from patients with myotonic dystrophy. Biochim Biophys Acta 1096:14-19; 1990.
-
(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
Wevers, R.A.6
Joosten, E.M.7
-
27
-
-
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.; Thornton, C. A. 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.
-
(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
-
28
-
-
0346243804
-
A muscleblind knockout model for myotonic dystrophy
-
Kanadia, R. N.; Johnstone, K. A.; Mankodi, A.; Lungu, C.; Thorthon, C. A.; Esson, D.; Timmers, A. M.; Hauswirth, W. W.; Swanson, M. S. A muscleblind knockout model for myotonic dystrophy. Science 302:1978-1980; 2003.
-
(2003)
Science
, vol.302
, pp. 1978-1980
-
-
Kanadia, R.N.1
Johnstone, K.A.2
Mankodi, A.3
Lungu, C.4
Thorthon, C.A.5
Esson, D.6
Timmers, A.M.7
Hauswirth, W.W.8
Swanson, M.S.9
-
29
-
-
15444364657
-
On the utility of pooling biological samples in microarray experiments
-
Kendziorski, C.; Irizarry, R. A.; Chen, K. S.; Haag, J. D.; Gould, M. N. On the utility of pooling biological samples in microarray experiments. Proc. Natl. Acad. Sci. USA 102:4252-4257; 2005.
-
(2005)
Proc. Natl. Acad. Sci. USA
, vol.102
, pp. 4252-4257
-
-
Kendziorski, C.1
Irizarry, R.A.2
Chen, K.S.3
Haag, J.D.4
Gould, M.N.5
-
30
-
-
0034624280
-
The expression of ion channel mRNAs in skeletal muscles from patients with myotonic muscular dystrophy
-
Kimura, T.; Takahashi, M. P.; Okuda, Y.; Kaido, M.; Fujimura, H.; Yanagihara, T.; Sakoda, S. The expression of ion channel mRNAs in skeletal muscles from patients with myotonic muscular dystrophy. Neurosci. Lett. 295:93-96; 2000.
-
(2000)
Neurosci. Lett
, vol.295
, pp. 93-96
-
-
Kimura, T.1
Takahashi, M.P.2
Okuda, Y.3
Kaido, M.4
Fujimura, H.5
Yanagihara, T.6
Sakoda, S.7
-
31
-
-
26444444738
-
2+-ATPase in myotonic dystrophy type 1
-
2+-ATPase in myotonic dystrophy type 1. Hum. Mol. Genet. 14:2189-2200; 2005.
-
(2005)
Hum. Mol. Genet
, vol.14
, 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
-
32
-
-
0035146628
-
The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing
-
Ladd, A. N.; Charlet, N.; Cooper, T. A. The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing. Mol. Cell. Biol. 21:1285-1296; 2001.
-
(2001)
Mol. Cell. Biol
, vol.21
, pp. 1285-1296
-
-
Ladd, A.N.1
Charlet, N.2
Cooper, T.A.3
-
33
-
-
0025033185
-
Molecular genetics of Na,K-ATPase
-
Lingrel, J. B.; Orlowski, J.; Shull, M. M.; Price, E. M. Molecular genetics of Na,K-ATPase. Prog. Nucleic Acid Res. Mol. Biol. 38:37-89; 1990.
-
(1990)
Prog. Nucleic Acid Res. Mol. Biol
, vol.38
, pp. 37-89
-
-
Lingrel, J.B.1
Orlowski, J.2
Shull, M.M.3
Price, E.M.4
-
34
-
-
0035800434
-
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
-
Liquori, C. L.; Ricker, K.; Moseley, M. L.; Jacobsen, J. F.; Kress, W.; Naylor, S. L.; Day, J. W.; Ranum, L. P. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293:864-867; 2001.
-
(2001)
Science
, vol.293
, 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.8
-
35
-
-
33845915511
-
Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy
-
Lueck, J. D.; Mankodi, A.; Swanson, M. S.; Thornton, C. A.; Dirksen, R. T. Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy. J. Gen. Physiol. 129:79-94; 2007.
-
(2007)
J. Gen. Physiol
, vol.129
, pp. 79-94
-
-
Lueck, J.D.1
Mankodi, A.2
Swanson, M.S.3
Thornton, C.A.4
Dirksen, R.T.5
-
36
-
-
0033873930
-
-
Maduke, M.; Miller, C.; Mindell, J. A. A decade of CLC chloride channels: structure, mechanism, and many unsettled questions. Annu. Rev. Biophys. Biomol. Struct. 29:411-438; 2000.
-
Maduke, M.; Miller, C.; Mindell, J. A. A decade of CLC chloride channels: structure, mechanism, and many unsettled questions. Annu. Rev. Biophys. Biomol. Struct. 29:411-438; 2000.
-
-
-
-
37
-
-
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.; Jansen, G.; Neville, C.; Narang, M.; Barcelo, J.; O'Hoy, K.; et al. Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene. Science 255:1253-1255; 1992.
-
(1992)
Science
, vol.255
, pp. 1253-1255
-
-
Mahadevan, M.1
Tsilfidis, C.2
Sabourin, L.3
Shutler, G.4
Amemiya, C.5
Jansen, G.6
Neville, C.7
Narang, M.8
Barcelo, J.9
O'Hoy, K.10
-
39
-
-
0034783271
-
Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2
-
Mankodi, A.; Urbinati, C. R.; Yuan, Q. P.; Moxley, R. T.; Sansone, V.; Krym, M.; Henderson, D.; Schalling, M.; Swanson, M. S.; Thornton, C. A. Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum. Mol. Genet. 10:2165-2170; 2001.
-
(2001)
Hum. Mol. Genet
, vol.10
, 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
-
40
-
-
0036347525
-
Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy
-
Mankodi, A.; Takahashi, M. P.; Jiang, H.; Beck, C. L.; Bowers, W. J.; Moxley, R. T.; Cannon, S. C.; Thornton, C. A. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol. Cell 10:35-44; 2002.
-
(2002)
Mol. Cell
, vol.10
, pp. 35-44
-
-
Mankodi, A.1
Takahashi, M.P.2
Jiang, H.3
Beck, C.L.4
Bowers, W.J.5
Moxley, R.T.6
Cannon, S.C.7
Thornton, C.A.8
-
41
-
-
33744762160
-
DM2 intronic expansions: Evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression
-
Margolis, J. M.; Schoser, B. G.; Moseley, M. L.; Day, J. W.; Ranum, L. P. 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; 2006.
-
(2006)
Hum. Mol. Genet
, vol.15
, pp. 1808-1815
-
-
Margolis, J.M.1
Schoser, B.G.2
Moseley, M.L.3
Day, J.W.4
Ranum, L.P.5
-
42
-
-
8744295714
-
Myotonic dystrophy type 2 and related myotonic disorders
-
Meola, G.; Moxley, III, R. T. Myotonic dystrophy type 2 and related myotonic disorders. J. Neurol. 251:1173-1182; 2004.
-
(2004)
J. Neurol
, vol.251
, pp. 1173-1182
-
-
Meola, G.1
Moxley III, R.T.2
-
43
-
-
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.; Swanson, M. S. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J. 19:4439-4448; 2000.
-
(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
-
44
-
-
0032992140
-
Myotonic dystrophy protein kinase expressed in rat cardiac muscle is associated with sarcoplasmic reticulum and gap junctions
-
Mussini, I.; Donatella, B.; Marin, O.; Furlan, S.; Salvatori, S. Myotonic dystrophy protein kinase expressed in rat cardiac muscle is associated with sarcoplasmic reticulum and gap junctions. J. Histochem. Cytochem. 47:383-392; 1999.
-
(1999)
J. Histochem. Cytochem
, vol.47
, pp. 383-392
-
-
Mussini, I.1
Donatella, B.2
Marin, O.3
Furlan, S.4
Salvatori, S.5
-
45
-
-
0034642233
-
dystrophic variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene
-
Nagamitsu, S.; Matsuura, T.; Khajavi, M.; Armstrong, R.; Gooch, C.; Harati, Y.; Ashizawa, T. A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene. Neurology 55:1697-1703; 2000.
-
(2000)
Neurology
, vol.55
, pp. 1697-1703
-
-
Nagamitsu, S.1
Matsuura, T.2
Khajavi, M.3
Armstrong, R.4
Gooch, C.5
Harati, Y.6
Ashizawa, T.A.7
-
47
-
-
0347621463
-
Statistical implications of pooling RNA samples for microarray experiments
-
Peng, X.; Wood, C. L.; Blalock, E. M.; Chen, K. C.; Landfield, P. W.; Stromberg, A. J. Statistical implications of pooling RNA samples for microarray experiments. BMC Bioinformatics 24:4-26; 2003.
-
(2003)
BMC Bioinformatics
, vol.24
, pp. 4-26
-
-
Peng, X.1
Wood, C.L.2
Blalock, E.M.3
Chen, K.C.4
Landfield, P.W.5
Stromberg, A.J.6
-
48
-
-
0032076126
-
Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
-
Philips, A. V.; Timchenko, L. T.; Cooper, T. A. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 280:737-741; 1998.
-
(1998)
Science
, vol.280
, pp. 737-741
-
-
Philips, A.V.1
Timchenko, L.T.2
Cooper, T.A.3
-
49
-
-
0031811594
-
Genetic mapping of a second myotonic dystrophy locus
-
Ranum, L. P.; Rasmussen, P. F.; Benzow, K. A.; Koob, M. D.; Day, J. W. Genetic mapping of a second myotonic dystrophy locus. Nat. Genet. 19:196-198; 1998.
-
(1998)
Nat. Genet
, vol.19
, pp. 196-198
-
-
Ranum, L.P.1
Rasmussen, P.F.2
Benzow, K.A.3
Koob, M.D.4
Day, J.W.5
-
50
-
-
4444299702
-
Pathogenic RNA repeats: An expanding role in genetic disease
-
Ranum, L. P.; Day, J. W. Pathogenic RNA repeats: An expanding role in genetic disease. Trends Genet. 20:506-512; 2004.
-
(2004)
Trends Genet
, vol.20
, pp. 506-512
-
-
Ranum, L.P.1
Day, J.W.2
-
51
-
-
0024324798
-
Identification of a zinc finger protein that binds to the sterol regulatory element
-
Rajavashisth, T. B.; Taylor, A. K.; Andalibi, A.; Svenson, K. L.; Lusis, A. J. Identification of a zinc finger protein that binds to the sterol regulatory element. Science 245:640-643; 1989.
-
(1989)
Science
, vol.245
, pp. 640-643
-
-
Rajavashisth, T.B.1
Taylor, A.K.2
Andalibi, A.3
Svenson, K.L.4
Lusis, A.J.5
-
52
-
-
0027982349
-
Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts
-
Ricker, K.; Koch, M. C.; Lehmann-Horn, F.; Pongratz, D.; Otto, M.; Heine, R.; Moxley, III, R. T. Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 44:1448-1452; 1994.
-
(1994)
Neurology
, vol.44
, 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
-
53
-
-
0034873099
-
Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy
-
Savkur, R. S.; Philips, A. V.; Cooper, T. A. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat. Genet. 29:40-47; 2001.
-
(2001)
Nat. Genet
, vol.29
, pp. 40-47
-
-
Savkur, R.S.1
Philips, A.V.2
Cooper, T.A.3
-
54
-
-
2442707986
-
Insulin receptor splicing alteration in myotonic dystrophy type 2
-
Savkur, R. S.; Philips, A. V.; Cooper, T. A.; Dalton, J. C.; Moseley, M. L.; Ranum, L. P.; Day, J. W. Insulin receptor splicing alteration in myotonic dystrophy type 2. Am. J. Hum. Genet. 74:1309-1313; 2004.
-
(2004)
Am. J. Hum. Genet
, vol.74
, pp. 1309-1313
-
-
Savkur, R.S.1
Philips, A.V.2
Cooper, T.A.3
Dalton, J.C.4
Moseley, M.L.5
Ranum, L.P.6
Day, J.W.7
-
55
-
-
0034992228
-
Proximal myotonic myopathy and proximal myotonic dystrophy: Two different entities? The phenotypic variability of proximal myotonic syndromes
-
Schneider, C.; Wessig, C.; Muller, C. R.; Brechtelsbauer, D.; Grimm, T. Proximal myotonic myopathy and proximal myotonic dystrophy: Two different entities? The phenotypic variability of proximal myotonic syndromes. Neuromuscul. Disord. 11:485-488; 2001.
-
(2001)
Neuromuscul. Disord
, vol.11
, pp. 485-488
-
-
Schneider, C.1
Wessig, C.2
Muller, C.R.3
Brechtelsbauer, D.4
Grimm, T.5
-
56
-
-
0034782506
-
Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1
-
Sergeant, N.; Sablonniere, B.; Schraen-Maschke, S.; Ghestem, A.; Maurage, C. A.; Wattez, A.; Vermersch, P.; Delacourte, A. Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1. Hum. Mol. Genet. 10:2143-2155; 2001.
-
(2001)
Hum. Mol. Genet
, vol.10
, pp. 2143-2155
-
-
Sergeant, N.1
Sablonniere, B.2
Schraen-Maschke, S.3
Ghestem, A.4
Maurage, C.A.5
Wattez, A.6
Vermersch, P.7
Delacourte, A.8
-
57
-
-
0027269568
-
Skeletal muscle bioenergetics in myotonic dystrophy
-
Taylor, D. J.; Kemp, G. J.; Woods, C. G.; Edwards, J. H.; Radda, G. K. Skeletal muscle bioenergetics in myotonic dystrophy. J. Neurol. Sci. 116:193-200; 1993.
-
(1993)
J. Neurol. Sci
, vol.116
, pp. 193-200
-
-
Taylor, D.J.1
Kemp, G.J.2
Woods, C.G.3
Edwards, J.H.4
Radda, G.K.5
-
58
-
-
0029919450
-
Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy
-
Timchenko, L. T.; Miller, J. W.; Timchenko, N. A.; De Vore, D. R.; Datar, K. V.; Lin, L.; Roberts, R.; Caskey, C. T.; Swanson, M. S. Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res. 24:4407-4414; 1996.
-
(1996)
Nucleic Acids Res
, vol.24
, pp. 4407-4414
-
-
Timchenko, L.T.1
Miller, J.W.2
Timchenko, N.A.3
De Vore, D.R.4
Datar, K.V.5
Lin, L.6
Roberts, R.7
Caskey, C.T.8
Swanson, M.S.9
-
59
-
-
1842529234
-
Overexpression of CUG triplet repeat-binding protein, CUGBP1, in mice inhibits myogenesis
-
Timchenko, N. A.; Patel, R.; Iakova, P.; Cai, Z. J.; Quan, L.; Timchenko, L. T. Overexpression of CUG triplet repeat-binding protein, CUGBP1, in mice inhibits myogenesis. J. Biol. Chem. 279:13129-13139; 2004.
-
(2004)
J. Biol. Chem
, vol.279
, pp. 13129-13139
-
-
Timchenko, N.A.1
Patel, R.2
Iakova, P.3
Cai, Z.J.4
Quan, L.5
Timchenko, L.T.6
-
60
-
-
0029822936
-
Specific tau variants in the brains of patients with myotonic dystrophy
-
Vermersch, P.; Sergeant, N.; Ruchoux, M. M.; Hofmann-Radvanyi, H.; Wattez, A.; Petit, H.; Dwailly, P.; Delacourte, A. Specific tau variants in the brains of patients with myotonic dystrophy. Neurology 47:711-717; 1996.
-
(1996)
Neurology
, vol.47
, pp. 711-717
-
-
Vermersch, P.1
Sergeant, N.2
Ruchoux, M.M.3
Hofmann-Radvanyi, H.4
Wattez, A.5
Petit, H.6
Dwailly, P.7
Delacourte, A.8
-
61
-
-
0034570142
-
2+ release from internal stores in cardiac and skeletal muscles
-
2+ release from internal stores in cardiac and skeletal muscles. Acta Biochim. Pol. 47:705-723; 2000.
-
(2000)
Acta Biochim. Pol
, vol.47
, pp. 705-723
-
-
Wrzosek, A.1
|