-
1
-
-
84878455107
-
Molecular pathogenesis and therapeutic targets in huntington's disease
-
eds Wells RD, Ashizawa T ( Elsevier/Academic Press, Boston), 2nd Ed
-
Bett JS, Bates GP, Hockly E (2006) Molecular pathogenesis and therapeutic targets in Huntington's disease. Genetic Instabilities and Neurological Diseases, eds Wells RD, Ashizawa T (Elsevier/Academic Press, Boston), 2nd Ed, pp 223-249.
-
(2006)
Genetic Instabilities and Neurological Diseases
, pp. 223-249
-
-
Bett, J.S.1
Bates, G.P.2
Hockly, E.3
-
3
-
-
0031916812
-
Complex i defect in muscle from patients with huntington's disease
-
Arenas J, et al. (1998) Complex I defect in muscle from patients with Huntington's disease. Ann Neurol 43(3):397-400.
-
(1998)
Ann Neurol
, vol.43
, Issue.3
, pp. 397-400
-
-
Arenas, J.1
-
4
-
-
56349130281
-
Use of hand-held dynamometry in the evaluation of lower limb muscle strength in people with huntington's disease
-
Busse ME, Hughes G, Wiles CM, Rosser AE (2008) Use of hand-held dynamometry in the evaluation of lower limb muscle strength in people with Huntington's disease. J Neurol 255(10):1534-1540.
-
(2008)
J Neurol
, vol.255
, Issue.10
, pp. 1534-1540
-
-
Busse, M.E.1
Hughes, G.2
Wiles, C.M.3
Rosser, A.E.4
-
5
-
-
0033914747
-
Abnormal in vivo skeletal muscle energy metabolism in huntington's disease and dentatorubropallidoluysian atrophy
-
Lodi R, et al. (2000) Abnormal in vivo skeletal muscle energy metabolism in Huntington's disease and dentatorubropallidoluysian atrophy. Ann Neurol 48(1):72-76.
-
(2000)
Ann Neurol
, vol.48
, Issue.1
, pp. 72-76
-
-
Lodi, R.1
-
6
-
-
10844273236
-
Progressive abnormalities in skeletal muscle and neuromuscular junctions of transgenic mice expressing the huntington's disease mutation
-
Ribchester RR, et al. (2004) Progressive abnormalities in skeletal muscle and neuromuscular junctions of transgenic mice expressing the Huntington's disease mutation. Eur J Neurosci 20(11):3092-3114.
-
(2004)
Eur J Neurosci
, vol.20
, Issue.11
, pp. 3092-3114
-
-
Ribchester, R.R.1
-
7
-
-
22844440902
-
Mitochondrial impairment in patients and asymptomatic mutation carriers of huntington's disease
-
Saft C, et al. (2005) Mitochondrial impairment in patients and asymptomatic mutation carriers of Huntington's disease. Mov Disord 20(6):674-679.
-
(2005)
Mov Disord
, vol.20
, Issue.6
, pp. 674-679
-
-
Saft, C.1
-
8
-
-
69949102831
-
Huntington's disease: The current state of research with peripheral tissues
-
Sassone J, Colciago C, Cislaghi G, Silani V, Ciammola A (2009) Huntington's disease: The current state of research with peripheral tissues. Exp Neurol 219(2):385-397.
-
(2009)
Exp Neurol
, vol.219
, Issue.2
, pp. 385-397
-
-
Sassone, J.1
Colciago, C.2
Cislaghi, G.3
Silani, V.4
Ciammola, A.5
-
9
-
-
0032919205
-
Formation of polyglutamine inclusions in non-cns tissue
-
Sathasivam K, et al. (1999) Formation of polyglutamine inclusions in non-CNS tissue. Hum Mol Genet 8(5):813-822.
-
(1999)
Hum Mol Genet
, vol.8
, Issue.5
, pp. 813-822
-
-
Sathasivam, K.1
-
10
-
-
79959589571
-
Molecular characterization of skeletal muscle atrophy in the r6/2 mouse model of huntington's disease
-
She P, et al. (2011) Molecular characterization of skeletal muscle atrophy in the R6/2 mouse model of Huntington's disease. Am J Physiol Endocrinol Metab 301(1): E49-E61.
-
(2011)
Am J Physiol Endocrinol Metab
, vol.301
, Issue.1
-
-
She, P.1
-
11
-
-
25844526181
-
Gene expression in huntington's disease skeletal muscle: A potential biomarker
-
Strand AD, et al. (2005) Gene expression in Huntington's disease skeletal muscle: A potential biomarker. Hum Mol Genet 14(13):1863-1876.
-
(2005)
Hum Mol Genet
, vol.14
, Issue.13
, pp. 1863-1876
-
-
Strand, A.D.1
-
12
-
-
35348941757
-
Clinical correlates of mitochondrial function in huntington's disease muscle
-
Turner C, Cooper JM, Schapira AH (2007) Clinical correlates of mitochondrial function in Huntington's disease muscle. Mov Disord 22(12):1715-1721.
-
(2007)
Mov Disord
, vol.22
, Issue.12
, pp. 1715-1721
-
-
Turner, C.1
Cooper, J.M.2
Schapira, A.H.3
-
13
-
-
70449308592
-
The influence of potassium and chloride ions on the membrane potential of single muscle fibres
-
Hodgkin AL, Horowicz P (1959) The influence of potassium and chloride ions on the membrane potential of single muscle fibres. J Physiol 148:127-160.
-
(1959)
J Physiol
, vol.148
, pp. 127-160
-
-
Hodgkin, A.L.1
Horowicz, P.2
-
14
-
-
0016166945
-
On the repetitive discharge in myotonic muscle fibres
-
Adrian RH, Bryant SH (1974) On the repetitive discharge in myotonic muscle fibres. J Physiol 240(2):505-515.
-
(1974)
J Physiol
, vol.240
, Issue.2
, pp. 505-515
-
-
Adrian, R.H.1
Bryant, S.H.2
-
15
-
-
0015170319
-
Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids
-
Bryant SH, Morales-Aguilera A (1971) Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids. J Physiol 219(2): 367-383.
-
(1971)
J Physiol
, vol.219
, Issue.2
, pp. 367-383
-
-
Bryant, S.H.1
Morales-Aguilera, A.2
-
16
-
-
0001920030
-
The chloride conductance of frog skeletal muscle
-
Hutter OF, Noble D (1960) The chloride conductance of frog skeletal muscle. J Physiol 151:89-102.
-
(1960)
J Physiol
, vol.151
, pp. 89-102
-
-
Hutter, O.F.1
Noble, D.2
-
17
-
-
0028152604
-
Role of innervation, excitability, and myogenic factors in the expression of the muscular chloride channel clc-1. A study on normal and myotonic muscle
-
Klocke R, Steinmeyer K, Jentsch TJ, Jockusch H (1994) Role of innervation, excitability, and myogenic factors in the expression of the muscular chloride channel ClC-1. A study on normal and myotonic muscle. J Biol Chem 269(44):27635-27639.
-
(1994)
J Biol Chem
, vol.269
, Issue.44
, pp. 27635-27639
-
-
Klocke, R.1
Steinmeyer, K.2
Jentsch, T.J.3
Jockusch, H.4
-
18
-
-
0027996879
-
Molecular physiology of voltage-gated chloride channels
-
Pusch M, Jentsch TJ (1994) Molecular physiology of voltage-gated chloride channels. Physiol Rev 74(4):813-827.
-
(1994)
Physiol Rev
, vol.74
, Issue.4
, pp. 813-827
-
-
Pusch, M.1
Jentsch, T.J.2
-
19
-
-
0025932612
-
Inactivation of muscle chloride channel by transposon insertion in myotonic mice
-
Steinmeyer K, et al. (1991) Inactivation of muscle chloride channel by transposon insertion in myotonic mice. Nature 354(6351):304-308.
-
(1991)
Nature
, vol.354
, Issue.6351
, pp. 304-308
-
-
Steinmeyer, K.1
-
20
-
-
0026039594
-
Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel
-
Steinmeyer K, Ortland C, Jentsch TJ (1991) Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel. Nature 354(6351): 301-304.
-
(1991)
Nature
, vol.354
, Issue.6351
, pp. 301-304
-
-
Steinmeyer, K.1
Ortland, C.2
Jentsch, T.J.3
-
21
-
-
16044373842
-
Exon 1 of the hd gene with an expanded cag repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
-
Mangiarini L, et al. (1996) Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87(3):493-506.
-
(1996)
Cell
, vol.87
, Issue.3
, pp. 493-506
-
-
Mangiarini, L.1
-
22
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on huntington's disease chromosomes
-
The Huntington's Disease Collaborative Research Group
-
The Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72(6):971-983.
-
(1993)
Cell
, vol.72
, Issue.6
, pp. 971-983
-
-
-
23
-
-
24044442568
-
Early behavioral deficits in r6/2 mice suitable for use in preclinical drug testing
-
Hickey MA, Gallant K, Gross GG, Levine MS, Chesselet MF (2005) Early behavioral deficits in R6/2 mice suitable for use in preclinical drug testing. Neurobiol Dis 20(1): 1-11.
-
(2005)
Neurobiol Dis
, vol.20
, Issue.1
, pp. 1-11
-
-
Hickey, M.A.1
Gallant, K.2
Gross, G.G.3
Levine, M.S.4
Chesselet, M.F.5
-
24
-
-
0033560924
-
Characterization of progressive motor deficits in mice transgenic for the human huntington's disease mutation
-
Carter RJ, et al. (1999) Characterization of progressive motor deficits in mice transgenic for the human Huntington's disease mutation. J Neurosci 19(8):3248-3257.
-
(1999)
J Neurosci
, vol.19
, Issue.8
, pp. 3248-3257
-
-
Carter, R.J.1
-
25
-
-
0033500593
-
Selective discrimination learning impairments in mice expressing the human huntington's disease mutation
-
Lione LA, et al. (1999) Selective discrimination learning impairments in mice expressing the human Huntington's disease mutation. J Neurosci 19(23):10428-10437.
-
(1999)
J Neurosci
, vol.19
, Issue.23
, pp. 10428-10437
-
-
Lione, L.A.1
-
26
-
-
0034234519
-
Abnormal synaptic plasticity and impaired spatial cognition in mice transgenic for exon 1 of the human huntington's disease mutation
-
Murphy KP, et al. (2000) Abnormal synaptic plasticity and impaired spatial cognition in mice transgenic for exon 1 of the human Huntington's disease mutation. J Neurosci 20(13):5115-5123.
-
(2000)
J Neurosci
, vol.20
, Issue.13
, pp. 5115-5123
-
-
Murphy, K.P.1
-
27
-
-
11144260152
-
Truncated clc-1 mrna in myotonic dystrophy exerts a dominant-negative effect on the cl current
-
Berg J, Jiang H, Thornton CA, Cannon SC (2004) Truncated ClC-1 mRNA in myotonic dystrophy exerts a dominant-negative effect on the Cl current. Neurology 63(12): 2371-2375.
-
(2004)
Neurology
, vol.63
, Issue.12
, pp. 2371-2375
-
-
Berg, J.1
Jiang, H.2
Thornton, C.A.3
Cannon, S.C.4
-
28
-
-
0036347927
-
Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing
-
Charlet-B N, et al. (2002) Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell 10(1):45-53.
-
(2002)
Mol Cell
, vol.10
, Issue.1
, pp. 45-53
-
-
Charlet-B, N.1
-
29
-
-
0030694881
-
Chloride conductance in mouse muscle is subject to post-transcriptional compensation of the functional cl-channel 1 gene dosage
-
Chen MF, Niggeweg R, Iaizzo PA, Lehmann-Horn F, Jockusch H (1997) Chloride conductance in mouse muscle is subject to post-transcriptional compensation of the functional Cl-channel 1 gene dosage. J Physiol 504(Pt 1):75-81.
-
(1997)
J Physiol
, vol.504
, Issue.PART 1
, pp. 75-81
-
-
Chen, M.F.1
Niggeweg, R.2
Iaizzo, P.A.3
Lehmann-Horn, F.4
Jockusch, H.5
-
30
-
-
84869428758
-
Triplet repeats in transcripts: Structural insights into rna toxicity
-
Galka-Marciniak P, Urbanek MO, Krzyzosiak WJ (2012) Triplet repeats in transcripts: structural insights into RNA toxicity. Biol Chem 393(11):1299-1315.
-
(2012)
Biol Chem
, vol.393
, Issue.11
, pp. 1299-1315
-
-
Galka-Marciniak, P.1
Urbanek, M.O.2
Krzyzosiak, W.J.3
-
31
-
-
39749160587
-
Muscleblind-like 2 (mbnl2) -deficient mice as a model for myotonic dystrophy
-
Hao M, et al. (2008) Muscleblind-like 2 (Mbnl2) -deficient mice as a model for myotonic dystrophy. Dev Dyn 237(2):403-410.
-
(2008)
Dev Dyn
, vol.237
, Issue.2
, pp. 403-410
-
-
Hao, M.1
-
32
-
-
34247337570
-
Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for clcn1
-
Lueck JD, et al. (2007) Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1. Am J Physiol Cell Physiol 292(4):C1291-C1297.
-
(2007)
Am J Physiol Cell Physiol
, vol.292
, Issue.4
-
-
Lueck, J.D.1
-
33
-
-
0034622926
-
Myotonic dystrophy in transgenic mice expressing an expanded cug repeat
-
Mankodi A, et al. (2000) Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 289(5485):1769-1773.
-
(2000)
Science
, vol.289
, Issue.5485
, pp. 1769-1773
-
-
Mankodi, A.1
-
34
-
-
0036347525
-
Expanded cug repeats trigger aberrant splicing of clc-1 chloride channel pre-mrna and hyperexcitability of skeletal muscle in myotonic dystrophy
-
Mankodi A, et al. (2002) Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell 10(1):35-44.
-
(2002)
Mol Cell
, vol.10
, Issue.1
, pp. 35-44
-
-
Mankodi, A.1
-
35
-
-
80455168268
-
Cag repeats mimic cug repeats in the misregulation of alternative splicing
-
Mykowska A, Sobczak K, Wojciechowska M, Kozlowski P, Krzyzosiak WJ (2011) CAG repeats mimic CUG repeats in the misregulation of alternative splicing. Nucleic Acids Res 39(20):8938-8951.
-
(2011)
Nucleic Acids Res
, vol.39
, Issue.20
, pp. 8938-8951
-
-
Mykowska, A.1
Sobczak, K.2
Wojciechowska, M.3
Kozlowski, P.4
Krzyzosiak, W.J.5
-
36
-
-
34548718165
-
Muscleblind-like 1 interacts with rna hairpins in splicing target and pathogenic rnas
-
Yuan Y, et al. (2007) Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs. Nucleic Acids Res 35(16):5474-5486.
-
(2007)
Nucleic Acids Res
, vol.35
, Issue.16
, pp. 5474-5486
-
-
Yuan, Y.1
-
37
-
-
78650887200
-
Chloride currents from the transverse tubular system in adult mammalian skeletal muscle fibers
-
DiFranco M, Herrera A, Vergara JL (2011) Chloride currents from the transverse tubular system in adult mammalian skeletal muscle fibers. J Gen Physiol 137(1):21-41.
-
(2011)
J Gen Physiol
, vol.137
, Issue.1
, pp. 21-41
-
-
DiFranco, M.1
Herrera, A.2
Vergara, J.L.3
-
38
-
-
0035033206
-
Ion permeation and selectivity in clc-type chloride channels
-
Fahlke C (2001) Ion permeation and selectivity in ClC-type chloride channels. Am J Physiol Renal Physiol 280(5):F748-F757.
-
(2001)
Am J Physiol Renal Physiol
, vol.280
, Issue.5
-
-
Fahlke, C.1
-
39
-
-
0028950604
-
Chloride currents across the membrane of mammalian skeletal muscle fibres
-
Fahlke C, Rüdel R (1995) Chloride currents across the membrane of mammalian skeletal muscle fibres. J Physiol 484(Pt 2):355-368.
-
(1995)
J Physiol
, vol.484
, Issue.PART 2
, pp. 355-368
-
-
Fahlke, C.1
Rüdel, R.2
-
40
-
-
78650063521
-
Sarcolemmal-restricted localization of functional clc-1 channels in mouse skeletal muscle
-
Lueck JD, Rossi AE, Thornton CA, Campbell KP, Dirksen RT (2010) Sarcolemmal-restricted localization of functional ClC-1 channels in mouse skeletal muscle. J Gen Physiol 136(6):597-613.
-
(2010)
J Gen Physiol
, vol.136
, Issue.6
, pp. 597-613
-
-
Lueck, J.D.1
Rossi, A.E.2
Thornton, C.A.3
Campbell, K.P.4
Dirksen, R.T.5
-
41
-
-
0018911168
-
Rubidium block and rubidium permeability of the inward rectifier of frog skeletal muscle fibres
-
Standen NB, Stanfield PR (1980) Rubidium block and rubidium permeability of the inward rectifier of frog skeletal muscle fibres. J Physiol 304:415-435.
-
(1980)
J Physiol
, vol.304
, pp. 415-435
-
-
Standen, N.B.1
Stanfield, P.R.2
-
42
-
-
0018651788
-
Potassium depletion and sodium block of potassium currents under hyperpolarization in frog sartorius muscle
-
Standen NB, Stanfield PR (1979) Potassium depletion and sodium block of potassium currents under hyperpolarization in frog sartorius muscle. J Physiol 294:497-520.
-
(1979)
J Physiol
, vol.294
, pp. 497-520
-
-
Standen, N.B.1
Stanfield, P.R.2
-
43
-
-
20244376896
-
Striatal potassium channel dysfunction in huntington's disease transgenic mice
-
Ariano MA, et al. (2005) Striatal potassium channel dysfunction in Huntington's disease transgenic mice. J Neurophysiol 93(5):2565-2574.
-
(2005)
J Neurophysiol
, vol.93
, Issue.5
, pp. 2565-2574
-
-
Ariano, M.A.1
-
44
-
-
0021895378
-
Inward rectification in the transverse tubular system of frog skeletal muscle studied with potentiometric dyes
-
Ashcroft FM, Heiny JA, Vergara J (1985) Inward rectification in the transverse tubular system of frog skeletal muscle studied with potentiometric dyes. J Physiol 359:269-291.
-
(1985)
J Physiol
, vol.359
, pp. 269-291
-
-
Ashcroft, F.M.1
Heiny, J.A.2
Vergara, J.3
-
45
-
-
79953190402
-
Kir2.6 regulates the surface expression of kir2.x inward rectifier potassium channels
-
Dassau L, Conti LR, Radeke CM, Ptácek LJ, Vandenberg CA (2011) Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels. J Biol Chem 286(11): 9526-9541.
-
(2011)
J Biol Chem
, vol.286
, Issue.11
, pp. 9526-9541
-
-
Dassau, L.1
Conti, L.R.2
Radeke, C.M.3
Ptácek, L.J.4
Vandenberg, C.A.5
-
46
-
-
7444224064
-
Myosin heavy chain isoform mrna and protein levels after long-term paralysis
-
Talmadge RJ, Garcia ND, Roy RR, Edgerton VR (2004) Myosin heavy chain isoform mRNA and protein levels after long-term paralysis. Biochem Biophys Res Commun 325(1):296-301.
-
(2004)
Biochem Biophys Res Commun
, vol.325
, Issue.1
, pp. 296-301
-
-
Talmadge, R.J.1
Garcia, N.D.2
Roy, R.R.3
Edgerton, V.R.4
-
47
-
-
0029559938
-
Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the cic-1 chloride channel
-
Pusch M, Steinmeyer K, Koch MC, Jentsch TJ (1995) Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel. Neuron 15(6):1455-1463.
-
(1995)
Neuron
, vol.15
, Issue.6
, pp. 1455-1463
-
-
Pusch, M.1
Steinmeyer, K.2
Koch, M.C.3
Jentsch, T.J.4
|