-
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, 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 1992;68:799-808.
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
McCurrach, M.E.2
Harley, H.G.3
-
3
-
-
0026598119
-
An unstable triplet repeat in a gene related to myotonic muscular dystrophy
-
Fu YH, Pizzuti A, Fenwich Jr RG, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992;255: 1256-1258.
-
(1992)
Science
, vol.255
, pp. 1256-1258
-
-
Fu, Y.H.1
Pizzuti, A.2
Fenwich Jr., R.G.3
-
4
-
-
0026603841
-
Myotonic dystrophy mutation: An unstable CTG repeat in the 3-untranslated region of the gene
-
Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3-untranslated region of the gene. Science 1992;255:1253-1255.
-
(1992)
Science
, vol.255
, pp. 1253-1255
-
-
Mahadevan, M.1
Tsilfidis, C.2
Sabourin, L.3
-
5
-
-
0026567370
-
Cloning of the essential myotonic dystrophy region and mapping of the putative defect
-
Aslanidis C, Jansen G, Amemiya C, et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 1992;355:548-551.
-
(1992)
Nature
, vol.355
, pp. 548-551
-
-
Aslanidis, C.1
Jansen, G.2
Amemiya, C.3
-
6
-
-
0035800470
-
Reconstructing myotonic dystrophy
-
Tapscott SJ, Thornton CA. Reconstructing myotonic dystrophy. Science 2001;293:816-817.
-
(2001)
Science
, vol.293
, pp. 816-817
-
-
Tapscott, S.J.1
Thornton, C.A.2
-
7
-
-
33846318219
-
Myotonic dystrophy: Emerging mechanisms for DM and DM2
-
2007
-
Cho DH, Tapscott SJ. Myotonic dystrophy: emerging mechanisms for DM and DM2. Biochim Biophys Acta 2007;1772:195-204, 2007.
-
(2007)
Biochim Biophys Acta
, vol.1772
, pp. 195-204
-
-
Cho, D.H.1
Tapscott, S.J.2
-
8
-
-
34648839886
-
Myotonic dystrophy: RNA-mediated muscle disease
-
Wheeler TM, Thornton CA. Myotonic dystrophy: RNA-mediated muscle disease. Curr Opin Neurol 2007;20:572-576.
-
(2007)
Curr Opin Neurol
, vol.20
, pp. 572-576
-
-
Wheeler, T.M.1
Thornton, C.A.2
-
9
-
-
21444450805
-
Clinical and molecular aspects of the myotonic dystrophies: A review
-
Machuca-Tzili L, Brook D, Hilton-Jones D. Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve 2005;32: 1-18.
-
(2005)
Muscle Nerve
, vol.32
, pp. 1-18
-
-
MacHuca-Tzili, L.1
Brook, D.2
Hilton-Jones, D.3
-
10
-
-
0021811103
-
Membrane changes in cells from myotonia patients
-
Rudel R, Lehmann-Horn F. Membrane changes in cells from myotonia patients. Physiol Rev 1985;65(2):310-356.
-
(1985)
Physiol Rev
, vol.65
, Issue.2
, pp. 310-356
-
-
Rudel, R.1
Lehmann-Horn, F.2
-
11
-
-
0018359721
-
Electrophysiologic properties of intercostals muscle fibers in human neuromuscular disease
-
Gruener R, Stern LZ, Markovitz D, et al. Electrophysiologic properties of intercostals muscle fibers in human neuromuscular disease. Muscle Nerve 1979;2:165-172.
-
(1979)
Muscle Nerve
, vol.2
, pp. 165-172
-
-
Gruener, R.1
Stern, L.Z.2
Markovitz, D.3
-
12
-
-
0024430983
-
Intracellular elemental composition of single muscle fibers in muscular dystrophy and dystrophia myotonica
-
Edstrom L, Wroblewski R. Intracellular elemental composition of single muscle fibers in muscular dystrophy and dystrophia myotonica. Acta Neurol Scand 1989;80:419-424.
-
(1989)
Acta Neurol Scand
, vol.80
, pp. 419-424
-
-
Edstrom, L.1
Wroblewski, R.2
-
13
-
-
0025314128
-
Characteristics of Na+ channels and ClY conductance in resealed muscle fiber segments from patients with myotonic dystrophy
-
Franke CH, Hatt H, Iaizzo PA, et al. Characteristics of Na+ channels and ClY conductance in resealed muscle fiber segments from patients with myotonic dystrophy. J Physiol 1990;425:391-405.
-
(1990)
J Physiol
, vol.425
, pp. 391-405
-
-
Franke, C.H.1
Hatt, H.2
Iaizzo, P.A.3
-
14
-
-
0028946277
-
Modulation of skeletal muscle sodium channels by human myotonin protein kinase
-
Mounsey JP, Puting Xu, John JE 3rd, et al. Modulation of skeletal muscle sodium channels by human myotonin protein kinase. J Clin Invest 1995;95:2379-2384.
-
(1995)
J Clin Invest
, vol.95
, pp. 2379-2384
-
-
Mounsey, J.P.1
Xu, P.2
John III, J.E.3
-
15
-
-
0034703395
-
Skeletal muscle sodium channel gating in mice deficient in myotonic dystrophy protein kinase
-
Mounsey JP, Mistry DJ, Ai CW, et al. Skeletal muscle sodium channel gating in mice deficient in myotonic dystrophy protein kinase. Hum Mol Genet 2000;9(15):2313-2320.
-
(2000)
Hum Mol Genet
, vol.9
, Issue.15
, pp. 2313-2320
-
-
Mounsey, J.P.1
Mistry, D.J.2
Ai, C.W.3
-
16
-
-
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, et al. Sodium channel and sodium pump in normal and pathological muscles from patients with myotonic muscular dystrophy and lower motor neuron impairment. J Clin Invest 1982;69:358-367.
-
(1982)
J Clin Invest
, vol.69
, pp. 358-367
-
-
Desnuelle, C.1
Lombet, A.2
Serratrice, G.3
-
17
-
-
0026024952
-
The calcium homeostasis and the membrane potential of cultured muscle cells from patients with myotonic dystrophy
-
Jacobs AE, Benders AA, Oosterhof A, et al. The calcium homeostasis and the membrane potential of cultured muscle cells from patients with myotonic dystrophy. Biochim Biophys Acta 1990;1096(1):14-19.
-
(1990)
Biochim Biophys Acta
, vol.1096
, Issue.1
, pp. 14-19
-
-
Jacobs, A.E.1
Benders, A.A.2
Oosterhof, A.3
-
18
-
-
26444444738
-
Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1
-
Kimura T, Nakamori M, Lueck JD, et al. Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1. Hum Mol Genet 2005;14:2189-2200.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2189-2200
-
-
Kimura, T.1
Nakamori, M.2
Lueck, J.D.3
-
19
-
-
0036347927
-
Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing
-
Charlet BN, Savkur RS, Singh G, et al. Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell 2002;10(1):45-53.
-
(2002)
Mol Cell
, vol.10
, Issue.1
, pp. 45-53
-
-
Charlet, B.N.1
Savkur, R.S.2
Singh, G.3
-
20
-
-
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 MP, Jiang H, et al. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell 2002;10(1);35-44.
-
(2002)
Mol Cell
, vol.10
, Issue.1
, pp. 35-44
-
-
Mankodi, A.1
Takahashi, M.P.2
Jiang, H.3
-
21
-
-
0022574758
-
Expression of apamin receptor in muscles of patients with myotonic muscular dystrophy
-
Renaud JF, Desnuelle C, Schmid-Antomarchi H, et al. Expression of apamin receptor in muscles of patients with myotonic muscular dystrophy. Nature 1986;319:678-680.
-
(1986)
Nature
, vol.319
, pp. 678-680
-
-
Renaud, J.F.1
Desnuelle, C.2
Schmid-Antomarchi, H.3
-
22
-
-
0034624280
-
The expression of ion channel mRNAs in skeletal muscles from patients with myotonic muscular dystrophy
-
Kimura T, Takahashi MP, Okuda Y, et al. The expression of ion channel mRNAs in skeletal muscles from patients with myotonic muscular dystrophy. Neurosci Lett 2000;295:93-96.
-
(2000)
Neurosci Lett
, vol.295
, pp. 93-96
-
-
Kimura, T.1
Takahashi, M.P.2
Okuda, Y.3
-
23
-
-
0028151491
-
Possible role of apamin-sensitive K+ channels in myotonic dystrophy
-
Behrens MI, Jalil P, Serani A, et al. Possible role of apamin-sensitive K+ channels in myotonic dystrophy. Muscle Nerve 1994;17:1264-1270.
-
(1994)
Muscle Nerve
, vol.17
, pp. 1264-1270
-
-
Behrens, M.I.1
Jalil, P.2
Serani, A.3
-
24
-
-
0037707635
-
The antidepressant fluoxetine blocks the human small conductance calcium-activated potassium channels SK1, SK2 and SK3
-
Terstappen GC, Pellacani A, Alderighi L, et al. The antidepressant fluoxetine blocks the human small conductance calcium-activated potassium channels SK1, SK2 and SK3. Neurosci Lett 2003;346:85-88.
-
(2003)
Neurosci Lett
, vol.346
, pp. 85-88
-
-
Terstappen, G.C.1
Pellacani, A.2
Alderighi, L.3
-
25
-
-
0031896118
-
Sarcolemmal excitability in myotonic dystrophy: Assessment through surface EMG
-
Chisari C, D-Alessandro C, Manca ML, et al. Sarcolemmal excitability in myotonic dystrophy: assessment through surface EMG. Muscle Nerve 1998;21:543-546.
-
(1998)
Muscle Nerve
, vol.21
, pp. 543-546
-
-
Chisari, C.1
D-Alessandro, C.2
Manca, M.L.3
-
26
-
-
0034846196
-
A surface EMG analysis of sarcolemma excitability alteration and myofiber degeneration in Steinert disease
-
Chisari C, Simonella C, Rossi B. A surface EMG analysis of sarcolemma excitability alteration and myofiber degeneration in Steinert disease. Clin Neurophysiol 2001;112:1925-1930.
-
(2001)
Clin Neurophysiol
, vol.112
, pp. 1925-1930
-
-
Chisari, C.1
Simonella, C.2
Rossi, B.3
-
28
-
-
53049100021
-
Myotonic Dystrophy: Therapeutic strategies for the future
-
Wheeler Thurman M. Myotonic Dystrophy: therapeutic strategies for the future. Neurotherapeutics 2008;5:592-600.
-
(2008)
Neurotherapeutics
, vol.5
, pp. 592-600
-
-
Wheeler Thurman, M.1
-
30
-
-
0031753630
-
A pilot study of dehydroepiandrosterone sulphate in myotonic dystrophy
-
Sugino M, Ohsawa N, Ito T, et al. A pilot study of dehydroepiandrosterone sulphate in myotonic dystrophy. Neurology 1998,51:586-589.
-
(1998)
Neurology
, vol.51
, pp. 586-589
-
-
Sugino, M.1
Ohsawa, N.2
Ito, T.3
-
32
-
-
0032913289
-
Fluoxetine inhibits L-Type Ca2+ and transient outward K+ currents in rat ventricular myocytes
-
Kyu-Sang P, In-Deok K, Ki-Chang P, et al. Fluoxetine inhibits L-Type Ca2+ and transient outward K+ currents in rat ventricular myocytes. Yonsei Med J 1999;40(2):144-151.
-
(1999)
Yonsei Med J
, vol.40
, Issue.2
, pp. 144-151
-
-
Kyu-Sang, P.1
In-Deok, K.2
Ki-Chang, P.3
-
33
-
-
0033199036
-
Fluoxetine inhibits K+ transport pathways (K+ efflux, Na+-K+-2Clj cotransport, and Na+ pump) underlying volume regulation in corneal endothelial cells
-
Hara E, Reinach PS, Wen Q, et al. Fluoxetine inhibits K+ transport pathways (K+ efflux, Na+-K+-2Clj cotransport, and Na+ pump) underlying volume regulation in corneal endothelial cells. J Membr Biol 1999;171:75-85.
-
(1999)
J Membr Biol
, vol.171
, pp. 75-85
-
-
Hara, E.1
Reinach, P.S.2
Wen, Q.3
-
34
-
-
0032960715
-
Block by fluoxetine of volume-regulated anion channels
-
Maertens C,Wei L,Voets T, et al. Block by fluoxetine of volume-regulated anion channels. Br J Pharmacol 1999;126:508-514.
-
(1999)
Br J Pharmacol
, vol.126
, pp. 508-514
-
-
Maertens, C.1
Wei, L.2
Voets, T.3
-
35
-
-
33745159710
-
T-Type calcium channels are inhibited by fluoxetine and its metabolite norfluoxetine
-
Traboulsie A, Chemin J, Kupfer E, et al. T-Type calcium channels are inhibited by fluoxetine and its metabolite norfluoxetine. Mol Pharmacol 2006;69:1963-1968.
-
(2006)
Mol Pharmacol
, vol.69
, pp. 1963-1968
-
-
Traboulsie, A.1
Chemin, J.2
Kupfer, E.3
|