-
1
-
-
0035426049
-
Drastic reduction of the slow gate of human muscle chloride channel (ClC-1) by mutation C277S
-
Accardi, A., Ferrera, L., and Pusch, M. (2001). Drastic reduction of the slow gate of human muscle chloride channel (ClC-1) by mutation C277S. J. Physiol. 534, 745-752.doi: 10.1111/j.1469-7793.2001.00745.x
-
(2001)
J. Physiol
, vol.534
, pp. 745-752
-
-
Accardi, A.1
Ferrera, L.2
Pusch, M.3
-
2
-
-
33748798473
-
Synergism between halide binding and proton transport in a CLC-type exchanger
-
Accardi, A., Lobet, S., Williams, C., Miller, C., and Dutzler, R. (2006). Synergism between halide binding and proton transport in a CLC-type exchanger. J. Mol. Biol. 362, 691-699.doi: 10.1016/j.jmb.2006.07.081
-
(2006)
J. Mol. Biol
, vol.362
, pp. 691-699
-
-
Accardi, A.1
Lobet, S.2
Williams, C.3
Miller, C.4
Dutzler, R.5
-
3
-
-
0033811517
-
Fast and slow gating relaxations in the muscle chloride channel ClC-1
-
Accardi, A., and Pusch, M. (2000). Fast and slow gating relaxations in the muscle chloride channel ClC-1. J. Gen. Physiol. 116, 433-444.doi: 10.1085/jgp.116.3.433
-
(2000)
J. Gen. Physiol
, vol.116
, pp. 433-444
-
-
Accardi, A.1
Pusch, M.2
-
4
-
-
0041899029
-
Conformational changes in the pore of CLC-0
-
Accardi, A., and Pusch, M. (2003). Conformational changes in the pore of CLC-0. J. Gen. Physiol. 122, 277-293.doi: 10.1085/jgp.200308834
-
(2003)
J. Gen. Physiol
, vol.122
, pp. 277-293
-
-
Accardi, A.1
Pusch, M.2
-
5
-
-
0016166945
-
On the repetitive discharge in myotonic muscle fibres
-
Adrian, R. H., and Bryant, S. H. (1974). On the repetitive discharge in myotonic muscle fibres. J. Physiol. 240, 505-515.doi: 10.1113/jphysiol.1974.sp010620
-
(1974)
J. Physiol
, vol.240
, pp. 505-515
-
-
Adrian, R.H.1
Bryant, S.H.2
-
6
-
-
84883619662
-
Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy
-
Ardissone, A., Bragato, C., Caffi, L., Blasevich, F., Maestrini, S., Bianchi, M. L., et al. (2013). Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy. BMC Med. Genet. 14:89.doi: 10.1186/1471-2350-14-89
-
(2013)
BMC Med. Genet
, vol.14
, pp. 89
-
-
Ardissone, A.1
Bragato, C.2
Caffi, L.3
Blasevich, F.4
Maestrini, S.5
Bianchi, M.L.6
-
7
-
-
0032589042
-
Modulation of the gating of CIC-1 by S-(-) 2-(4-chlorophenoxy) propionic acid
-
Aromataris, E. C., Astill, D. S., Rychkov, G. Y., Bryant, S. H., Bretag, A. H., and Roberts, M. L. (1999). Modulation of the gating of CIC-1 by S-(-) 2-(4-chlorophenoxy) propionic acid. Br. J. Pharmacol. 126, 1375-1382.doi: 10.1038/sj.bjp.0702459
-
(1999)
Br. J. Pharmacol
, vol.126
, pp. 1375-1382
-
-
Aromataris, E.C.1
Astill, D.S.2
Rychkov, G.Y.3
Bryant, S.H.4
Bretag, A.H.5
Roberts, M.L.6
-
8
-
-
67349211020
-
Pregnancy in women with myotonia congenita
-
Basu, A., Nishanth, P., and Ifaturoti, O. (2009). Pregnancy in women with myotonia congenita. Int. J. Gynaecol. Obstet. 106, 62-63.doi: 10.1016/j.ijgo.2009.01.031
-
(2009)
Int. J. Gynaecol. Obstet
, vol.106
, pp. 62-63
-
-
Basu, A.1
Nishanth, P.2
Ifaturoti, O.3
-
9
-
-
84885168677
-
Molecular determinants of common gating of a ClC chloride channel
-
Bennetts, B., and Parker, M. W. (2013). Molecular determinants of common gating of a ClC chloride channel. Nat. Commun. 4, 2507.doi: 10.1038/ncomms3507
-
(2013)
Nat. Commun
, vol.4
, pp. 2507
-
-
Bennetts, B.1
Parker, M.W.2
-
10
-
-
36349018731
-
Inhibition of skeletal muscle ClC-1 chloride channels by low intracellular pH and ATP
-
Bennetts, B., Parker, M. W., and Cromer, B. A. (2007). Inhibition of skeletal muscle ClC-1 chloride channels by low intracellular pH and ATP. J. Biol. Chem. 282, 32780-32791.doi: 10.1074/jbc.M703259200
-
(2007)
J. Biol. Chem
, vol.282
, pp. 32780-32791
-
-
Bennetts, B.1
Parker, M.W.2
Cromer, B.A.3
-
11
-
-
84864381337
-
Intracellular β-nicotinamide adenine dinucleotide inhibits the skeletal muscle ClC-1 chloride channel
-
Bennetts, B., Yu, Y., Chen, T. Y., and Parker, M. W. (2012). Intracellular β-nicotinamide adenine dinucleotide inhibits the skeletal muscle ClC-1 chloride channel. J. Biol. Chem. 287, 25808-25820.doi: 10.1074/jbc.M111.327551
-
(2012)
J. Biol. Chem
, vol.287
, pp. 25808-25820
-
-
Bennetts, B.1
Yu, Y.2
Chen, T.Y.3
Parker, M.W.4
-
12
-
-
85027941872
-
Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo. Neuromuscul
-
Borges, A. S., Barbosa, J. D., Resende, L. A. L., Mota, L. S. L. S., Amorim, R. M., Carvalho, T. L., et al. (2013). Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo. Neuromuscul. Disord. 23, 206-213.doi: 10.1016/j.nmd.2012.11.008
-
(2013)
Disord
, vol.23
, pp. 206-213
-
-
Borges, A.S.1
Barbosa, J.D.2
Resende, L.3
Mota, L.4
Amorim, R.M.5
Carvalho, T.L.6
-
13
-
-
0023238072
-
Muscle chloride channels
-
Bretag, A. H. (1987). Muscle chloride channels. Physiol. Rev. 67, 618-724.
-
(1987)
Physiol. Rev
, vol.67
, pp. 618-724
-
-
Bretag, A.H.1
-
14
-
-
0019161175
-
Myotonia as a side effect of diuretic action
-
Bretag, A. H., Dawe, S. R., Kerr, D. I., and Moskwa, A. G. (1980). Myotonia as a side effect of diuretic action. Br. J. Pharmacol. 71, 467-471.doi: 10.1111/j.1476-5381.1980.tb10959.x
-
(1980)
Br. J. Pharmacol
, vol.71
, pp. 467-471
-
-
Bretag, A.H.1
Dawe, S.R.2
Kerr, D.I.3
Moskwa, A.G.4
-
15
-
-
0023652852
-
Activators of protein kinase C induce myotonia by lowering chloride conductance in muscle
-
Brinkmeier, H., and Jockusch, H. (1987). Activators of protein kinase C induce myotonia by lowering chloride conductance in muscle. Biochem. Biophys. Res. Comm. 148, 1383-1389.doi: 10.1016/S0006-291X(87)80285-1
-
(1987)
Biochem. Biophys. Res. Comm
, vol.148
, pp. 1383-1389
-
-
Brinkmeier, H.1
Jockusch, H.2
-
16
-
-
0033227621
-
Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita
-
Brugnoni, R., Galantini, S., Confalonieri, P., Balestrini, M. R., Cornelio, F., and Mantegazza, R. (1999). Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita. Hum. Mutat. 14, 447.doi: 10.1002/(SICI)1098-1004(199911)14:5<447::AID-HUMU13>3.0.CO;2-Z
-
(1999)
Hum. Mutat
, vol.14
, pp. 447
-
-
Brugnoni, R.1
Galantini, S.2
Confalonieri, P.3
Balestrini, M.R.4
Cornelio, F.5
Mantegazza, R.6
-
17
-
-
84884906985
-
A large cohort of myotonia congenita probands: Novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene
-
Brugnoni, R., Kapetis, D., Imbrici, P., Pessia, M., Canioni, E., Colleoni, L., et al. (2013). A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. J. Hum. Genet. 58, 581-587.doi: 10.1038/jhg.2013.58
-
(2013)
J. Hum. Genet
, vol.58
, pp. 581-587
-
-
Brugnoni, R.1
Kapetis, D.2
Imbrici, P.3
Pessia, M.4
Canioni, E.5
Colleoni, L.6
-
18
-
-
0014592117
-
Cable properties of external intercostal muscle fibres from myotonic and nonmyotonic goats. Muscle membrane of normal and myotonic goats in normal and low external chloride
-
Bryant, S. H. (1969). Cable properties of external intercostal muscle fibres from myotonic and nonmyotonic goats. Muscle membrane of normal and myotonic goats in normal and low external chloride. J. Physiol. 204, 539-550.doi: 10.1113/jphysiol.1969.sp008930
-
(1969)
J. Physiol
, vol.204
, pp. 539-550
-
-
Bryant, S.H.1
-
19
-
-
0026022498
-
Chloride channel regulation in the skeletal muscle of normal and myotonic goats
-
Bryant, S. H., and Conte-Camerino, D. (1991). Chloride channel regulation in the skeletal muscle of normal and myotonic goats. Pflugers. Arch. 417, 605-610.doi: 10.1007/BF00372958
-
(1991)
Pflugers. Arch
, vol.417
, pp. 605-610
-
-
Bryant, S.H.1
Conte-Camerino, D.2
-
20
-
-
0015170319
-
Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids
-
Bryant, S. H., and Morales-Aguilera, A. (1971). Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids. J. Physiol. 219, 367-383.doi: 10.1113/jphysiol.1971.sp009667
-
(1971)
J. Physiol
, vol.219
, pp. 367-383
-
-
Bryant, S.H.1
Morales-Aguilera, A.2
-
21
-
-
84857628860
-
Novel insights into the pathomechanisms of skeletal muscle channelopathies
-
Burge, J. A., and Hanna, M. G. (2012). Novel insights into the pathomechanisms of skeletal muscle channelopathies. Curr. Neurol. Neurosci. Rep. 12, 62-69.doi: 10.1007/s11910-011-0238-3
-
(2012)
Curr. Neurol. Neurosci. Rep
, vol.12
, pp. 62-69
-
-
Burge, J.A.1
Hanna, M.G.2
-
22
-
-
33845354986
-
Large movement in the C terminus of CLC-0 chloride channel during slow gating
-
Bykova, E. A., Zhang, X. D., Chen, T. Y., and Zheng, J. (2006). Large movement in the C terminus of CLC-0 chloride channel during slow gating. Nat. Struct. Mol. Biol. 13, 1115-1119.doi: 10.1038/nsmb1176
-
(2006)
Nat. Struct. Mol. Biol
, vol.13
, pp. 1115-1119
-
-
Bykova, E.A.1
Zhang, X.D.2
Chen, T.Y.3
Zheng, J.4
-
23
-
-
84912021603
-
Protein kinase C theta (PKCθ) modulates the ClC-1 chloride channel activity and skeletal muscle phenotype: A biophysical and gene expression study in mouse models lacking the PKCθ
-
Camerino, G. M., Bouchè, M., De Bellis, M., Cannone, M., Liantonio, A., Musaraj, K., et al. (2014). Protein kinase C theta (PKCθ) modulates the ClC-1 chloride channel activity and skeletal muscle phenotype: a biophysical and gene expression study in mouse models lacking the PKCθ. Pflugers. Arch. 466, 2215-28.doi: 10.1007/s00424-014-1495-1.
-
(2014)
Pflugers. Arch
, vol.466
, pp. 2215-2228
-
-
Camerino, G.M.1
Bouchè, M.2
De Bellis, M.3
Cannone, M.4
Liantonio, A.5
Musaraj, K.6
-
24
-
-
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., Udd, B., 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.doi: 10.1007/s00415-012-6462-1.
-
(2012)
J. Neurol
, vol.259
, pp. 2090-2099
-
-
Cardani, R.1
Giagnacovo, M.2
Botta, A.3
Rinaldi, F.4
Morgante, A.5
Udd, B.6
-
25
-
-
77953541008
-
Inter-subunit communication and fast gate integrity are important for common gating in hClC-1
-
Cederholm, J. M., Rychkov, G. Y., Bagley, C. J., and Bretag, A. H. (2010). Inter-subunit communication and fast gate integrity are important for common gating in hClC-1. Int. J. Biochem. Cell Biol. 42, 1182-1188.doi: 10.1016/j.biocel.2010.04.004
-
(2010)
Int. J. Biochem. Cell Biol
, vol.42
, pp. 1182-1188
-
-
Cederholm, J.M.1
Rychkov, G.Y.2
Bagley, C.J.3
Bretag, A.H.4
-
26
-
-
0036347927
-
Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing
-
Charlet BN., Savkur, R. S., Singh, G., Philips, A. V., Grice, E. A., and Cooper, T. A. (2002). Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol. Cell 10, 45-53.doi: 10.1016/S1097-2765(02)00572-5
-
(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
-
27
-
-
84876251947
-
Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy
-
Chen, T. T., Klassen, T. L., Goldman, A. M., Marini, C., Guerrini, R., and Noebels, J. L. (2013). Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy. Neurology 80, 1078-1085.doi: 10.1212/WNL.0b013e31828868e7
-
(2013)
Neurology
, vol.80
, pp. 1078-1085
-
-
Chen, T.T.1
Klassen, T.L.2
Goldman, A.M.3
Marini, C.4
Guerrini, R.5
Noebels, J.L.6
-
28
-
-
33947321525
-
Haploinsufficiency for Znf9 in Znf9+/-mice is associated with multiorgan abnormalities resembling myotonic dystrophy
-
Chen, W., Wang, Y., Abe, Y., Cheney, L., Udd, B., and Li, Y. P. (2007). Haploinsufficiency for Znf9 in Znf9+/-mice is associated with multiorgan abnormalities resembling myotonic dystrophy. J. Mol. Biol. 368, 8-17.doi: 10.1016/j.jmb.2007.01.088
-
(2007)
J. Mol. Biol
, vol.368
, pp. 8-17
-
-
Chen, W.1
Wang, Y.2
Abe, Y.3
Cheney, L.4
Udd, B.5
Li, Y.P.6
-
29
-
-
21444456472
-
Phenotypic variability in myotonia congenita
-
Colding-Jørgensen, E. (2005). Phenotypic variability in myotonia congenita. Muscle Nerve 32, 19-34.doi: 10.1002/mus.20295
-
(2005)
Muscle Nerve
, vol.32
, pp. 19-34
-
-
Colding-Jørgensen, E.1
-
30
-
-
0024551714
-
Membrane ionic conductances in normal and denervated skeletal muscle of the rat during development
-
Conte Camerino, D., De Luca, A., Mambrini, M., and Vrbovà, G. (1989). Membrane ionic conductances in normal and denervated skeletal muscle of the rat during development. Pflugers. Arch. 413, 568-570.doi: 10.1007/ BF00594192
-
(1989)
Pflugers. Arch
, vol.413
, pp. 568-570
-
-
Conte Camerino, D.1
De Luca, A.2
Mambrini, M.3
Vrbovà, G.4
-
31
-
-
0024205538
-
Enantiomers of clofibric acid analogs have oppositeactions on rat skeletal muscle chloride channels
-
Conte-Camerino, D., Mambrini, M., De Luca, A., Tricarico, D., Bryant, S. H., Tortorella, V., et al. (1988). Enantiomers of clofibric acid analogs have oppositeactions on rat skeletal muscle chloride channels. Pflugers. Arch. 413, 105-107.doi: 10.1007/BF00581238
-
(1988)
Pflugers. Arch
, vol.413
, pp. 105-107
-
-
Conte-Camerino, D.1
Mambrini, M.2
De Luca, A.3
Tricarico, D.4
Bryant, S.H.5
Tortorella, V.6
-
32
-
-
84907506185
-
Angiotensin II modulates mouse skeletal muscle resting conductance to chloride and potassium ions and calcium homeostasis via the AT1 receptor and NADPH oxidase
-
Cozzoli, A., Liantonio, A., Conte, E., Cannone, M., Massari, A. M., Giustino, A., et al. (2014). Angiotensin II modulates mouse skeletal muscle resting conductance to chloride and potassium ions and calcium homeostasis via the AT1 receptor and NADPH oxidase. Am. J. Physiol. Cell Physiol. 307, C634-C647.doi: 10.1152/ajpcell.00372.2013
-
(2014)
Am. J. Physiol. Cell Physiol
, vol.307
, pp. C634-C647
-
-
Cozzoli, A.1
Liantonio, A.2
Conte, E.3
Cannone, M.4
Massari, A.M.5
Giustino, A.6
-
33
-
-
84885046171
-
K+ Channelepsy: Progress in the neurobiology of potassium channels and epilepsy
-
D’Adamo, M. C., Catacuzzeno, L., Di Giovanni, G., Franciolini, F., and Pessia, M. (2013). K+ Channelepsy: progress in the neurobiology of potassium channels and epilepsy. Front. Cell. Neurosci. 7:134.doi: 10.3389/fncel.2013.00134
-
(2013)
Front. Cell. Neurosci
, vol.7
, pp. 134
-
-
D’Adamo, M.C.1
Catacuzzeno, L.2
Di Giovanni, G.3
Franciolini, F.4
Pessia, M.5
-
34
-
-
84925084100
-
Animal models of episodic ataxia type 1 (EA1)
-
2nd Edn, eds Mark and S. LeDoux, (San Diego, CA: Academic Press Inc./Elsevier Science Publishing Co. Inc
-
D’Adamo, M. C., Di Giovanni, G., and Pessia, M. (2014). "Animal models of episodic ataxia type 1 (EA1)," in Movement Disorders: Genetics and Models, 2nd Edn, eds Mark and S. LeDoux, (San Diego, CA: Academic Press Inc./Elsevier Science Publishing Co. Inc.), 797-807.
-
(2014)
Movement Disorders: Genetics and Models
, pp. 797-807
-
-
D’Adamo, M.C.1
Di Giovanni, G.2
Pessia, M.3
-
35
-
-
84929575723
-
Hyperthermia, short-sleep phenotype and severe migraine associated with episodic ataxia type 1
-
D’Adamo, M. C., Gallenmüller, C., Servettini, I., Hartl, E., Tucker, S. J., Arning, L., et al. (2015). Hyperthermia, short-sleep phenotype and severe migraine associated with episodic ataxia type 1. Front. Physiol. 5:525.doi: 10.3389/fphys.2014.00525
-
(2015)
Front. Physiol
, vol.5
, pp. 525
-
-
D’Adamo, M.C.1
Gallenmüller, C.2
Servettini, I.3
Hartl, E.4
Tucker, S.J.5
Arning, L.6
-
36
-
-
85024483118
-
Episodic Ataxia Type 1
-
eds R. A. Pagon, T. C. Bird, C. R. Dolan, and K. Stephens (Seattle, WA: University of Washington
-
D’Adamo, M. C., Hanna, M. G., Di Giovanni, G., and Pessia, M. (2012). "Episodic Ataxia Type 1," in GeneReviews [Internet], eds R. A. Pagon, T. C. Bird, C. R. Dolan, and K. Stephens (Seattle, WA: University of Washington).
-
(2012)
Genereviews [Internet]
-
-
D’Adamo, M.C.1
Hanna, M.G.2
Di Giovanni, G.3
Pessia, M.4
-
37
-
-
0032782657
-
Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K+ channel function
-
D’Adamo, M. C., Imbrici, P., Sponcichetti, F., and Pessia, M. (1999). Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K+ channel function. FASEB J. 13, 1335-1345.
-
(1999)
FASEB J
, vol.13
, pp. 1335-1345
-
-
D’Adamo, M.C.1
Imbrici, P.2
Sponcichetti, F.3
Pessia, M.4
-
38
-
-
0032879393
-
Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families
-
de Diego, C., Gámez, J., Plassart-Schiess, E., Lasa, A., Del Río, E., Cervera, C., et al. (1999). Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families. J. Neurol. 246, 825-829.doi: 10.1007/s004150050462
-
(1999)
J. Neurol
, vol.246
, pp. 825-829
-
-
De Diego, C.1
Gámez, J.2
Plassart-Schiess, E.3
Lasa, A.4
Del Río, E.5
Cervera, C.6
-
39
-
-
0025266517
-
Pharmacological block of chloride channels of developing rat skeletal muscle affects the differentiation of specific contractile properties
-
De Luca, A., Conte Camerino, D., Connold, A., and Vrbovà, G. (1990a). Pharmacological block of chloride channels of developing rat skeletal muscle affects the differentiation of specific contractile properties. Pflugers. Arch. 416, 17-21.doi: 10.1007/BF00370216
-
(1990)
Pflugers. Arch
, vol.416
, pp. 17-21
-
-
De Luca, A.1
Conte Camerino, D.2
Connold, A.3
Vrbovà, G.4
-
40
-
-
0025327155
-
Changes in membrane ionic conductances and excitability characteristics of rat skeletal muscle during aging
-
De Luca, A., Mambrini, M., and Conte Camerino, D. (1990b). Changes in membrane ionic conductances and excitability characteristics of rat skeletal muscle during aging. Pflugers Arch. 415, 642-644.doi: 10.1007/BF02583519
-
(1990)
Pflugers Arch
, vol.415
, pp. 642-644
-
-
De Luca, A.1
Mambrini, M.2
Conte Camerino, D.3
-
41
-
-
0026590638
-
Effects of aging on the mechanical threshold of rat skeletal muscle fibers
-
De Luca, A., and Conte Camerino, D. (1992). Effects of aging on the mechanical threshold of rat skeletal muscle fibers. Pflugers Arch. 420, 407-409.doi: 10.1007/BF00374477
-
(1992)
Pflugers Arch
, vol.420
, pp. 407-409
-
-
De Luca, A.1
Conte Camerino, D.2
-
42
-
-
0029093092
-
Changes of membrane electrical properties in extensor digitorum longus muscle from dystrophic (Mdx) mice
-
De Luca, A., Pierno, S., and Camerino, D. C. (1995). Changes of membrane electrical properties in extensor digitorum longus muscle from dystrophic (mdx) mice. Muscle Nerve 18, 1196-1198.doi: 10.1002/mus.880181016
-
(1995)
Muscle Nerve
, vol.18
, pp. 1196-1198
-
-
De Luca, A.1
Pierno, S.2
Camerino, D.C.3
-
43
-
-
0030031243
-
Effect of taurine depletion on excitation-contraction coupling and Cl-conductance of rat skeletal muscle
-
De Luca, A., Pierno, S., and Camerino, D. C. (1996). Effect of taurine depletion on excitation-contraction coupling and Cl-conductance of rat skeletal muscle. Eur. J. Pharmacol. 296, 215-222.doi: 10.1016/0014-2999(95)00702-4
-
(1996)
Eur. J. Pharmacol
, vol.296
, pp. 215-222
-
-
De Luca, A.1
Pierno, S.2
Camerino, D.C.3
-
44
-
-
0030913027
-
Effects of chronic growth hormone treatment in aged rats on the biophysical and pharmacological properties of skeletal muscle chloride channels
-
De Luca, A., Pierno, S., Cocchi, D., and Conte Camerino, D. (1997a). Effects of chronic growth hormone treatment in aged rats on the biophysical and pharmacological properties of skeletal muscle chloride channels. Br. J. Pharmacol. 121, 369-374.doi: 10.1038/sj.bjp.0701129
-
(1997)
Br. J. Pharmacol
, vol.121
, pp. 369-374
-
-
De Luca, A.1
Pierno, S.2
Cocchi, D.3
Conte Camerino, D.4
-
45
-
-
0031017192
-
Electrical properties of diaphragm and EDL muscles during the life of dystrophic mice
-
De Luca, A., Pierno, S., and Camerino, D. C. (1997b). Electrical properties of diaphragm and EDL muscles during the life of dystrophic mice. Am. J. Physiol. 272, C333-C340.
-
(1997)
Am. J. Physiol
, vol.272
, pp. C333-C340
-
-
De Luca, A.1
Pierno, S.2
Camerino, D.C.3
-
46
-
-
0031686140
-
Phosphorylation and IGF-1-mediated dephosphorylation pathways control the activity and the pharmacological properties of skeletal muscle chloride channels
-
De Luca, A., Pierno, S., Liantonio, A., Camerino, C., and Conte Camerino, D. (1998). Phosphorylation and IGF-1-mediated dephosphorylation pathways control the activity and the pharmacological properties of skeletal muscle chloride channels. Br. J. Pharmacol. 125, 477-482.doi: 10.1038/sj.bjp.0702107
-
(1998)
Br. J. Pharmacol
, vol.125
, pp. 477-482
-
-
De Luca, A.1
Pierno, S.2
Liantonio, A.3
Camerino, C.4
Conte Camerino, D.5
-
47
-
-
0028196545
-
Aging and chloride channel regulation in rat fast-twitch muscle fibres
-
De Luca, A., Tricarico, D., Pierno, S., and Conte Camerino, D. (1994a). Aging and chloride channel regulation in rat fast-twitch muscle fibres. Pflugers. Arch. 427, 80-85.doi: 10.1007/BF00585945
-
(1994)
Pflugers. Arch
, vol.427
, pp. 80-85
-
-
De Luca, A.1
Tricarico, D.2
Pierno, S.3
Conte Camerino, D.4
-
48
-
-
0028318861
-
Growth hormone administration to aged rats improves membrane electrical properties of skeletal muscle fibers
-
De Luca, A., Pierno, S., Cocchi, D., and Conte Camerino, D. (1994b). Growth hormone administration to aged rats improves membrane electrical properties of skeletal muscle fibers. J. Pharmacol. Exp. Ther. 269, 948-953.
-
(1994)
J. Pharmacol. Exp. Ther
, vol.269
, pp. 948-953
-
-
De Luca, A.1
Pierno, S.2
Cocchi, D.3
Conte Camerino, D.4
-
49
-
-
0026584787
-
Opposite effects of enantiomers of clofibric acid derivative on rat skeletal muscle chlorideconductance: Antagonism studies and theoretical modeling of two different receptor site interactions
-
De Luca, A., Tricarico, D., Wagner, R., Bryant, S. H., Tortorella, V., and Conte Camerino, D. (1992). Opposite effects of enantiomers of clofibric acid derivative on rat skeletal muscle chlorideconductance: antagonism studies and theoretical modeling of two different receptor site interactions. J. Pharmacol. Exp. Ther. 260, 364-368.
-
(1992)
J. Pharmacol. Exp. Ther
, vol.260
, pp. 364-368
-
-
De Luca, A.1
Tricarico, D.2
Wagner, R.3
Bryant, S.H.4
Tortorella, V.5
Conte Camerino, D.6
-
50
-
-
84872404672
-
Relationship between membrane Cl-conductance and contractile endurance in isolated rat muscles
-
de Paoli, F. V., Broch-Lips, M., Pedersen, T. H., and Nielsen, O. B. (2013). Relationship between membrane Cl-conductance and contractile endurance in isolated rat muscles. J. Physiol. 591, 531-545.doi: 10.1113/jphysiol.2012.243246
-
(2013)
J. Physiol
, vol.591
, pp. 531-545
-
-
De Paoli, F.V.1
Broch-Lips, M.2
Pedersen, T.H.3
Nielsen, O.B.4
-
51
-
-
78649703456
-
Lactate per se improves the excitability of depolarized rat skeletal muscle by reducing the Cl-conductance
-
de Paoli, F. V., Ørtenblad, N., Pedersen, T. H., Jørgensen, R., and Nielsen, O. B. (2010). Lactate per se improves the excitability of depolarized rat skeletal muscle by reducing the Cl-conductance. J. Physiol.588, 4785-4794.doi: 10.1113/jphysiol.2010.196568.
-
(2010)
J. Physiol
, vol.588
, pp. 4785-4794
-
-
De Paoli, F.V.1
Ørtenblad, N.2
Pedersen, T.H.3
Jørgensen, R.4
Nielsen, O.B.5
-
52
-
-
0029559239
-
Excitation-calcium release uncoupling in aged single human skeletal muscle fibers
-
Delbono, O., O’Rourke, K. S., and Ettinger, W. H. (1995). Excitation-calcium release uncoupling in aged single human skeletal muscle fibers. J. Membr. Biol. 148, 211-222.doi: 10.1007/BF00235039
-
(1995)
J. Membr. Biol
, vol.148
, pp. 211-222
-
-
Delbono, O.1
O’Rourke, K.S.2
Ettinger, W.H.3
-
53
-
-
84896451444
-
Preclinical evaluation of marketed sodium channel blockers in a rat model of myotonia discloses new promising antimyotonic drugs
-
Desaphy, J.-F., Carbonara, R., Costanza, T., and Conte Camerino, D. (2014). Preclinical evaluation of marketed sodium channel blockers in a rat model of myotonia discloses new promising antimyotonic drugs. Exp. Neurol. 255, 96-102.doi: 10.1016/j.expneurol.2014.02.023
-
(2014)
Exp. Neurol
, vol.255
, pp. 96-102
-
-
Desaphy, J.-F.1
Carbonara, R.2
Costanza, T.3
Conte Camerino, D.4
-
54
-
-
0032427642
-
Partial recovery of skeletal muscle sodium channel properties in aged rats chronically treated with growth hormone or the GH-secretagogue hexarelin
-
Desaphy, J.-F., De Luca, A., Pierno, S., Imbrici, P., and Conte Camerino, D. (1998). Partial recovery of skeletal muscle sodium channel properties in aged rats chronically treated with growth hormone or the GH-secretagogue hexarelin. J. Pharmacol. Exp. Ther. 286, 903-912.
-
(1998)
J. Pharmacol. Exp. Ther
, vol.286
, pp. 903-912
-
-
Desaphy, J.-F.1
De Luca, A.2
Pierno, S.3
Imbrici, P.4
Conte Camerino, D.5
-
55
-
-
84883213479
-
Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes
-
Desaphy, J.-F., Gramegna, G., Altamura, C., Dinardo, MM., Imbrici, P., George, A. L. Jr., et al. (2013). Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes. Exp. Neurol. 248, 530-540.doi: 10.1016/j.expneurol.2013.07.018
-
(2013)
Exp. Neurol
, vol.248
, pp. 530-540
-
-
Desaphy, J.-F.1
Gramegna, G.2
Altamura, C.3
Dinardo, M.M.4
Imbrici, P.5
George, A.L.6
-
56
-
-
78650887200
-
Chloride currents from the transverse tubular system in adult mammalian skeletal muscle fibers
-
DiFranco, M., Herrera, A., and Vergara, J. L. (2011). Chloride currents from the transverse tubular system in adult mammalian skeletal muscle fibers. J. Gen. Physiol. 137, 21-41.doi: 10.1085/jgp.201010496
-
(2011)
J. Gen. Physiol
, vol.137
, pp. 21-41
-
-
Difranco, M.1
Herrera, A.2
Vergara, J.L.3
-
57
-
-
0037327607
-
Involvement of helices at the dimmer interface in ClC-1 common gating
-
Duffield, M., Rychkov, G., Bretag, A., and Roberts, M. (2003). Involvement of helices at the dimmer interface in ClC-1 common gating. J. Gen. Physiol. 121, 149-161.doi: 10.1085/jgp.20028741
-
(2003)
J. Gen. Physiol
, vol.121
, pp. 149-161
-
-
Duffield, M.1
Rychkov, G.2
Bretag, A.3
Roberts, M.4
-
58
-
-
26844508489
-
Zinc inhibits human ClC-1 muscle chloride channel by interacting with its common gating mechanism
-
Duffield, M. D., Rychkov, G. Y., Bretag, A. H., and Roberts, M. L. (2005). Zinc inhibits human ClC-1 muscle chloride channel by interacting with its common gating mechanism. J. Physiol. 568, 5-12.doi: 10.1113/jphysiol.2005.091777
-
(2005)
J. Physiol
, vol.568
, pp. 5-12
-
-
Duffield, M.D.1
Rychkov, G.Y.2
Bretag, A.H.3
Roberts, M.L.4
-
59
-
-
4644351105
-
Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype
-
Duno, M., Colding-Jorgensen, E., Grunnet, M., Jespersen, T., Vissing, J., and Schwartz, M. (2004). Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype. Eur. J. Hum. Genet. 12, 738-743.doi: 10.1038/sj.ejhg.5201218
-
(2004)
Eur. J. Hum. Genet
, vol.12
, pp. 738-743
-
-
Duno, M.1
Colding-Jorgensen, E.2
Grunnet, M.3
Jespersen, T.4
Vissing, J.5
Schwartz, M.6
-
60
-
-
38849107987
-
Chloride conductance in the transverse tubular system of rat skeletal muscle fibres: Importance in excitation-contraction coupling and fatigue
-
Dutka, T. L., Murphy, R. M., Stephenson, D. G., and Lamb, G. D. (2008). Chloride conductance in the transverse tubular system of rat skeletal muscle fibres: importance in excitation-contraction coupling and fatigue. J. Physiol. 586.3, 875-887.doi: 10.1113/jphysiol.2007.144667
-
(2008)
J. Physiol. 586.3
, pp. 875-887
-
-
Dutka, T.L.1
Murphy, R.M.2
Stephenson, D.G.3
Lamb, G.D.4
-
61
-
-
33746641711
-
The ClC family of chloride channels and transporters
-
Dutzler, R. (2006). The ClC family of chloride channels and transporters. Curr. Opin. Struct. Biol. 16, 439-446.doi: 10.1016/j.sbi.2006.06.002
-
(2006)
Curr. Opin. Struct. Biol
, vol.16
, pp. 439-446
-
-
Dutzler, R.1
-
62
-
-
0037122805
-
X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity
-
Dutzler, R., Campbell, E. B., Cadene, M., Chait, B. T., and MacKinnon, R. (2002). X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity. Nature 415, 287-294.doi: 10.1038/415287a
-
(2002)
Nature
, vol.415
, pp. 287-294
-
-
Dutzler, R.1
Campbell, E.B.2
Cadene, M.3
Chait, B.T.4
Mackinnon, R.5
-
63
-
-
0037418859
-
Gating the selectivity filter in ClC chloride channels
-
Dutzler, R., Campbell, E. B., and MacKinnon, R. (2003). Gating the selectivity filter in ClC chloride channels. Science 300, 108-112.doi: 10.1126/science.10 82708
-
(2003)
Science
, vol.300
, pp. 108-112
-
-
Dutzler, R.1
Campbell, E.B.2
Mackinnon, R.3
-
64
-
-
33748070834
-
Acetazolamide acts directly on the human skeletal muscle chloride channel
-
Eguchi, H., Tsujino, A., Kaibara, M., Hayashi, H., Shirabe, S., Taniyama, K., et al. (2006). Acetazolamide acts directly on the human skeletal muscle chloride channel. Muscle Nerve 34, 292-297.doi: 10.1002/mus.20585
-
(2006)
Muscle Nerve
, vol.34
, pp. 292-297
-
-
Eguchi, H.1
Tsujino, A.2
Kaibara, M.3
Hayashi, H.4
Shirabe, S.5
Taniyama, K.6
-
65
-
-
0032008671
-
Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker’s generalized myotonia
-
Esteban, J., Neumeyer, A. M., McKenna-Yasek, D., and Brown, R. H. (1998). Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker’s generalized myotonia. Neurogenetics 1, 185-188.doi: 10.1007/s100480050027
-
(1998)
Neurogenetics
, vol.1
, pp. 185-188
-
-
Esteban, J.1
Neumeyer, A.M.2
McKenna-Yasek, D.3
Brown, R.H.4
-
66
-
-
3042648417
-
Functional and structural conservation of CBS domains from CLC chloride channels
-
Estévez, R., Pusch, M., Ferrer-Costa, C., Orozco, M., and Jentsch, T. J. (2004). Functional and structural conservation of CBS domains from CLC chloride channels. J. Physiol. 557, 363-378.doi: 10.1113/jphysiol.2003. 058453
-
(2004)
J. Physiol
, vol.557
, pp. 363-378
-
-
Estévez, R.1
Pusch, M.2
Ferrer-Costa, C.3
Orozco, M.4
Jentsch, T.J.5
-
67
-
-
0345146920
-
Conservation of chloride channel structure revealed by an inhibitor binding site in ClC-1
-
Estévez, R., Schroeder, B. C., Accardi, A., Jentsch, T. J., and Pusch, M. (2003). Conservation of chloride channel structure revealed by an inhibitor binding site in ClC-1. Neuron 38, 47-59.doi: 10.1016/S0896-6273(03)00168-5
-
(2003)
Neuron
, vol.38
, pp. 47-59
-
-
Estévez, R.1
Schroeder, B.C.2
Accardi, A.3
Jentsch, T.J.4
Pusch, M.5
-
68
-
-
78049362741
-
Structure of a eukaryotic CLC transporter defines an intermediate state in the transport cycle
-
Feng, L., Campbell, E. B., Hsiung, Y., and MacKinnon, R. (2010). Structure of a eukaryotic CLC transporter defines an intermediate state in the transport cycle. Science 330, 635-641.doi: 10.1126/science.1195230
-
(2010)
Science
, vol.330
, pp. 635-641
-
-
Feng, L.1
Campbell, E.B.2
Hsiung, Y.3
Mackinnon, R.4
-
69
-
-
36749015585
-
Chloride channel myotonia: Exon 8 hot-spot for dominant-negative interactions
-
Fialho, D., Schorge, S., Pucovska, U., Davies, N. P., Labrum, R., Haworth, A., et al. (2007). Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. Brain 130, 3265-3274.doi: 10.1093/brain/awm248
-
(2007)
Brain
, vol.130
, pp. 3265-3274
-
-
Fialho, D.1
Schorge, S.2
Pucovska, U.3
Davies, N.P.4
Labrum, R.5
Haworth, A.6
-
70
-
-
79960263579
-
Relationships between resting conductances, excitability, and t-system ionic homeostasis in skeletal muscle
-
Fraser, J. A., Huang, C. L., and Pedersen, T. H. (2011). Relationships between resting conductances, excitability, and t-system ionic homeostasis in skeletal muscle. J. Gen. Physiol. 138, 95-116.doi: 10.1085/jgp.201110617
-
(2011)
J. Gen. Physiol
, vol.138
, pp. 95-116
-
-
Fraser, J.A.1
Huang, C.L.2
Pedersen, T.H.3
-
71
-
-
30744447449
-
Fiber type-related changes in rat skeletal muscle calcium homeostasis during aging and restoration by growth hormone
-
Fraysse, B., Desaphy, J.-F., Rolland J.-F., Pierno, S., Liantonio, A., Giannuzzi, V., et al. (2006). Fiber type-related changes in rat skeletal muscle calcium homeostasis during aging and restoration by growth hormone. Neurobiol. Dis. 21, 372-380.doi: 10.1016/j.nbd.2005.07.012
-
(2006)
Neurobiol. Dis
, vol.21
, pp. 372-380
-
-
Fraysse, B.1
Desaphy, J.-F.2
Rolland, J.-F.3
Pierno, S.4
Liantonio, A.5
Giannuzzi, V.6
-
72
-
-
84910048826
-
A novel mutation in CLCN1 associated with feline myotonia congenita
-
Gandolfi, B., Daniel, R. J., O’Brien, D. P., Guo, L. T., Youngs, M. D., Leach, S. B., et al. (2014). A novel mutation in CLCN1 associated with feline myotonia congenita. PLoS ONE 9:e109926.doi: 10.1371/journal.pone.0109926
-
(2014)
Plos ONE
, vol.9
-
-
Gandolfi, B.1
Daniel, R.J.2
O’Brien, D.P.3
Guo, L.T.4
Youngs, M.D.5
Leach, S.B.6
-
73
-
-
56649100778
-
Gating of human ClC-2 chloride channels and regulation by carboxy-terminal domains
-
Garcia-Olivares, J., Alekov, A., Boroumand, M. R., Begemann, B., Hidalgo, P., and Fahlke, C. (2008). Gating of human ClC-2 chloride channels and regulation by carboxy-terminal domains. J. Physiol. 586, 5325-5336.doi: 10.1113/jphysiol.2008.158097
-
(2008)
J. Physiol
, vol.586
, pp. 5325-5336
-
-
Garcia-Olivares, J.1
Alekov, A.2
Boroumand, M.R.3
Begemann, B.4
Hidalgo, P.5
Fahlke, C.6
-
74
-
-
0027481915
-
Molecular basis of Thomsen’s disease (Autosomal dominant myotonia congenita)
-
George, A. L. Jr., Crackower, M. A., Abdalla, J. A., Hudson, A. J., and Ebers, G. C. (1993). Molecular basis of Thomsen’s disease (autosomal dominant myotonia congenita) Nat. Genet. 3, 305-310.doi: 10.1038/ng0493-305
-
(1993)
Nat. Genet
, vol.3
, pp. 305-310
-
-
George, A.L.1
Crackower, M.A.2
Abdalla, J.A.3
Hudson, A.J.4
Ebers, G.C.5
-
75
-
-
0029111561
-
Modifications ofgene expressionin myotonic murine skeletal muscle are associated with abnormal expression of myogenic regulatory factors
-
Goblet, C., and Whalen, R. G. (1995). Modifications ofgene expressionin myotonic murine skeletal muscle are associated with abnormal expression of myogenic regulatory factors. Dev. Biol. 170, 262-273.doi: 10.1006/dbio.1995.1213
-
(1995)
Dev. Biol
, vol.170
, pp. 262-273
-
-
Goblet, C.1
Whalen, R.G.2
-
76
-
-
0017855026
-
Effects of aceta-zolamide on myotonia
-
Griggs, R. C., Moxley, R. T. III, Riggs, J. E., and Engel, W. K. (1978). Effects of aceta-zolamide on myotonia. Ann. Neurol. 3, 531-537.doi: 10.1002/ana.410030614
-
(1978)
Ann. Neurol
, vol.3
, pp. 531-537
-
-
Griggs, R.C.1
Moxley, R.2
Riggs, J.E.3
Engel, W.K.4
-
77
-
-
84879773470
-
ClC-3 is an intracellular chloride/proton exchanger with large voltage-dependent nonlinear capacitance
-
Guzman, R. E., Grieschat, M., Fahlke, C., and Alekov, A. K. (2013). ClC-3 is an intracellular chloride/proton exchanger with large voltage-dependent nonlinear capacitance. ACS Chem. Neurosci. 4, 994-1003.doi: 10.1021/cn400032z
-
(2013)
ACS Chem. Neurosci
, vol.4
, pp. 994-1003
-
-
Guzman, R.E.1
Grieschat, M.2
Fahlke, C.3
Alekov, A.K.4
-
78
-
-
39749160587
-
Muscleblind-like 2 (Mbnl2) -deficient mice as a model for myotonic dystrophy
-
Hao, M., Akrami, K., Wei, K., De Diego, C., Che, N., Ku, J. H., et al. (2008). Muscleblind-like 2 (Mbnl2) -deficient mice as a model for myotonic dystrophy. Dev. Dyn. 237, 403-410.doi: 10.1002/dvdy.21428
-
(2008)
Dev. Dyn
, vol.237
, pp. 403-410
-
-
Hao, M.1
Akrami, K.2
Wei, K.3
De Diego, C.4
Che, N.5
Ku, J.H.6
-
79
-
-
68849102820
-
Axons, ions, and dons
-
Hille, B. (1992). Axons, ions, and dons. Science 258, 144-145.doi: 10.1126/science.258.5079.144
-
(1992)
Science
, vol.258
, pp. 144-145
-
-
Hille, B.1
-
80
-
-
70449308592
-
The influence of potassium and chloride ions on the membrane potential of single muscle fibres
-
Hodgkin, A. L., and Horowicz, P. (1959). The influence of potassium and chloride ions on the membrane potential of single muscle fibres. J. Physiol. 148, 127-160.doi: 10.1113/jphysiol.1959.sp006278
-
(1959)
J. Physiol
, vol.148
, pp. 127-160
-
-
Hodgkin, A.L.1
Horowicz, P.2
-
81
-
-
77952964341
-
Functional study of CLC-1 mutants expressed in Xenopus ocytes reveals that a C-terminal region Thr891-Ser892-Thr893 is responsible for the effects of protein kinase C activator
-
Hsiao, K. M., Huang, R. Y., Tang, P. H., and Lin, M. J. (2010). Functional study of CLC-1 mutants expressed in Xenopus ocytes reveals that a C-terminal region Thr891-Ser892-Thr893 is responsible for the effects of protein kinase C activator. Cell. Physiol. Biochem. 25, 687-694.doi: 10.1159/000315088
-
(2010)
Cell. Physiol. Biochem
, vol.25
, pp. 687-694
-
-
Hsiao, K.M.1
Huang, R.Y.2
Tang, P.H.3
Lin, M.J.4
-
82
-
-
56049119594
-
A Novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1
-
Imbrici, P., Gualandi, F., D’Adamo, M. C., Taddei Masieri, M., Cudia, P., De Grandis, D., et al. (2008). A Novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1. Neuroscience 157, 577-587.doi: 10.1016/j.neuroscience.2008.09.022
-
(2008)
Neuroscience
, vol.157
, pp. 577-587
-
-
Imbrici, P.1
Gualandi, F.2
D’Adamo, M.C.3
Taddei Masieri, M.4
Cudia, P.5
De Grandis, D.6
-
83
-
-
79952074056
-
Structure of a slow CLC Cl-/H+ antiporter from a cyanobacterium
-
Jayaram, H., Robertson, J. L., Wu, F., Williams, C., and Miller, C. (2011). Structure of a slow CLC Cl-/H+ antiporter from a cyanobacterium. Biochemistry 50, 788-794.doi: 10.1021/bi1019258
-
(2011)
Biochemistry
, vol.50
, pp. 788-794
-
-
Jayaram, H.1
Robertson, J.L.2
Wu, F.3
Williams, C.4
Miller, C.5
-
84
-
-
84941570211
-
Discovery of CLC transport proteins: Cloning, structure, function and pathophysiology
-
[Epub ahead ofprint]
-
Jentsch, T. J. (2015). Discovery of CLC transport proteins: cloning, structure, function and pathophysiology. J. Physiol.doi: 10.1113/JP270043 [Epub ahead ofprint].
-
(2015)
J. Physiol
-
-
Jentsch, T.J.1
-
85
-
-
0032922760
-
The CLC chloride channel family
-
Jentsch, T. J., Friedrich, T., Schriever, A., and Yamada, H. (1999). The CLCchloride channel family. Pflugers. Arch. 437, 783-795.doi: 10.1007/s004240050847
-
(1999)
Pflugers. Arch
, vol.437
, pp. 783-795
-
-
Jentsch, T.J.1
Friedrich, T.2
Schriever, A.3
Yamada, H.4
-
86
-
-
0025200567
-
Primary structure of Torpedo marmorata chloride channel isolated by expression cloning in Xenopus ocytes
-
Jentsch, T. J., Steinmeyer, K., and Schwarz, G. (1990). Primary structure of Torpedo marmorata chloride channel isolated by expression cloning in Xenopus ocytes. Nature 348, 510-514.doi: 10.1038/348510a0
-
(1990)
Nature
, vol.348
, pp. 510-514
-
-
Jentsch, T.J.1
Steinmeyer, K.2
Schwarz, G.3
-
87
-
-
0026705098
-
The skeletal muscle chloride channel in dominant and recessive human myotonia
-
Koch, M. C., Steinmeyer, K., Lorenz, C., Ricker, K., Wolf, F., Otto, M., et al. (1992). The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 257, 797-800.doi: 10.1126/science.1379744
-
(1992)
Science
, vol.257
, pp. 797-800
-
-
Koch, M.C.1
Steinmeyer, K.2
Lorenz, C.3
Ricker, K.4
Wolf, F.5
Otto, M.6
-
88
-
-
34147173976
-
Lubiprostone: A chloride channel activator
-
Lacy, B. E., and Levy, L. C. (2007). Lubiprostone: a chloride channel activator. J. Clin. Gastroenterol. 41, 345-351.doi: 10.1097/01.mcg.0000225665.68920.df
-
(2007)
J. Clin. Gastroenterol
, vol.41
, pp. 345-351
-
-
Lacy, B.E.1
Levy, L.C.2
-
89
-
-
79952163945
-
On the localization of ClC-1 in skeletal muscle fibers
-
Lamb, G. D., Murphy, R. M., and Stephenson, D. G. (2011). On the localization of ClC-1 in skeletal muscle fibers. J. Gen. Physiol. 137, 327-329.doi: 10.1085/jgp.201010580
-
(2011)
J. Gen. Physiol
, vol.137
, pp. 327-329
-
-
Lamb, G.D.1
Murphy, R.M.2
Stephenson, D.G.3
-
90
-
-
79957896458
-
ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity
-
Leisle, L., Ludwig, C. F., Wagner, F. A., Jentsch, T. J., and Stauber, T. (2011). ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity. EMBO J. 30, 2140-2152.doi: 10.1038/emboj.2011.137
-
(2011)
EMBO J
, vol.30
, pp. 2140-2152
-
-
Leisle, L.1
Ludwig, C.F.2
Wagner, F.A.3
Jentsch, T.J.4
Stauber, T.5
-
91
-
-
0036073613
-
Molecular requisites for drug binding to muscle CLC-1 and renal CLC-K channel revealed by the use of phenoxy-alkyl derivatives of 2-(P-chlorophenoxy)propionic acid
-
Liantonio, A., Accardi, A., Carbonara, G., Fracchiolla, G., Loiodice, F., Tortorella, P., et al. (2002). Molecular requisites for drug binding to muscle CLC-1 and renal CLC-K channel revealed by the use of phenoxy-alkyl derivatives of 2-(p-chlorophenoxy)propionic acid. Mol. Pharmacol. 62, 265-271.doi: 10.1124/mol.62.2.265
-
(2002)
Mol. Pharmacol
, vol.62
, pp. 265-271
-
-
Liantonio, A.1
Accardi, A.2
Carbonara, G.3
Fracchiolla, G.4
Loiodice, F.5
Tortorella, P.6
-
92
-
-
33846514562
-
Niflumic acid inhibits chloride conductance of rat skeletal muscle by directly inhibiting the CLC-1 channel and by increasing intracellular calcium
-
Liantonio, A., Giannuzzi, V., Picollo, A., Babini, E., Pusch, M., and Conte Camerino, D. (2007). Niflumic acid inhibits chloride conductance of rat skeletal muscle by directly inhibiting the CLC-1 channel and by increasing intracellular calcium. Br. J. Pharmacol. 150, 235-247.doi: 10.1038/sj.bjp.0706954
-
(2007)
Br. J. Pharmacol
, vol.150
, pp. 235-247
-
-
Liantonio, A.1
Giannuzzi, V.2
Picollo, A.3
Babini, E.4
Pusch, M.5
Conte Camerino, D.6
-
93
-
-
84907483191
-
Limbic encephalitis with anti-GAD antibodies and Thomsen myotonia: A casual or causal association?
-
Licchetta, L., Bisulli, F., Naldi, I., Mainieri, G., and Tinuper, P. (2014). Limbic encephalitis with anti-GAD antibodies and Thomsen myotonia: a casual or causal association? Epileptic Disord. 16, 362-365.doi: 10.1684/epd.2014.0668
-
(2014)
Epileptic Disord
, vol.16
, pp. 362-365
-
-
Licchetta, L.1
Bisulli, F.2
Naldi, I.3
Mainieri, G.4
Tinuper, P.5
-
94
-
-
84871701543
-
Intracellular proton access in a Cl-/H+ antiporter
-
Lim, H.-H., Shane, T., and Miller, C. (2012). Intracellular proton access in a Cl-/H+ antiporter. PLoS Biol. 10:e1001441.doi: 10.1371/journal.pbio.1001441
-
(2012)
Plos Biol
, vol.10
-
-
Lim, H.-H.1
Shane, T.2
Miller, C.3
-
95
-
-
84921602639
-
Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita
-
Lo Monaco, M., D’Amico, A., Luigetti, M., Desaphy, J.-F., and Modoni, A. (2015). Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita. Clin. Neurophysiol. 126, 399-403.doi: 10.1016/j.clinph.2014.06.008
-
(2015)
Clin. Neurophysiol
, vol.126
, pp. 399-403
-
-
Lo Monaco, M.1
D’Amico, A.2
Luigetti, M.3
Desaphy, J.-F.4
Modoni, A.5
-
96
-
-
30444442312
-
Ion-binding properties of the ClC chloride selectivity filter
-
Lobet, S., and Dutzler, R. (2006). Ion-binding properties of the ClC chloride selectivity filter. EMBO J. 25, 24-33.doi: 10.1038/sj.emboj.7600909
-
(2006)
EMBO J
, vol.25
, pp. 24-33
-
-
Lobet, S.1
Dutzler, R.2
-
97
-
-
77951848201
-
Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1
-
Logigian, E. L., Martens, W. B., Moxley R. T. IV, McDermott, M. P., Dilek, N., Wiegner, A. W., et al. (2010). Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. Neurology 74, 1441-1448.doi: 10.1212/WNL.0b013e3181dc1a3a
-
(2010)
Neurology
, vol.74
, pp. 1441-1448
-
-
Logigian, E.L.1
Martens, W.B.2
Moxley, R.3
McDermott, M.P.4
Dilek, N.5
Wiegner, A.W.6
-
98
-
-
0029843417
-
Heteromultimeric CLC chloride channels with novel properties
-
Lorenz, C., Pusch, M., and Jentsch, T. J. (1996). Heteromultimeric CLC chloride channels with novel properties. Proc. Natl. Acad. Sci. U.S.A. 93, 13362-13366.doi: 10.1073/pnas.93.23.13362
-
(1996)
Proc. Natl. Acad. Sci. U.S.A
, vol.93
, pp. 13362-13366
-
-
Lorenz, C.1
Pusch, M.2
Jentsch, T.J.3
-
99
-
-
58649120821
-
Myotonia congenita
-
Lossin, C., and George, A. L. Jr. (2008). Myotonia congenita. Adv. Genet. 63, 25-55.doi: 10.1016/S0065-2660(08)01002-X
-
(2008)
Adv. Genet
, vol.63
, pp. 25-55
-
-
Lossin, C.1
George, A.L.2
-
100
-
-
84888229906
-
Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient
-
Lucchiari, S., Ulzi, G., Magri, F., Bucchia, M., Corbetta, F., Servida, M., et al. (2013). Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient. J. Physiol. Pharmacol. 64, 669-678.
-
(2013)
J. Physiol. Pharmacol
, vol.64
, pp. 669-678
-
-
Lucchiari, S.1
Ulzi, G.2
Magri, F.3
Bucchia, M.4
Corbetta, F.5
Servida, M.6
-
101
-
-
34247337570
-
Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1
-
Lueck, J. D., Lungu, C., Mankodi, A., Osborne, R. J., Welle, S. L., Dirksen, R. T., et al. (2007). Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1. Am. J. Physiol. Cell Physiol. 292, C1291-C2917.doi: 10.1152/ajpcell.00336.2006
-
(2007)
Am. J. Physiol. Cell Physiol
, vol.292
, pp. C1291-C2917
-
-
Lueck, J.D.1
Lungu, C.2
Mankodi, A.3
Osborne, R.J.4
Welle, S.L.5
Dirksen, R.T.6
-
102
-
-
78650063521
-
Sarcolemmal-restricted localization of functional ClC-1 channels in mouse skeletal muscle
-
Lueck, J. D., Rossi, A. E., Thornton, C. A., Campbell, K. P., and Dirksen, R. T. (2010). Sarcolemmal-restricted localization of functional ClC-1 channels in mouse skeletal muscle. J. Gen. Physiol. 136, 597-613.doi: 10.1085/jgp.201010526
-
(2010)
J. Gen. Physiol
, vol.136
, pp. 597-613
-
-
Lueck, J.D.1
Rossi, A.E.2
Thornton, C.A.3
Campbell, K.P.4
Dirksen, R.T.5
-
103
-
-
79955981353
-
Movement of hClC-1 C-termini during common gating and limits on their cytoplasmic location
-
Ma, L., Rychkov, G. Y., Bykova, E. A., Zheng, J., and Bretag, A. H. (2011). Movement of hClC-1 C-termini during common gating and limits on their cytoplasmic location. Biochem. J. 436, 415-428.doi: 10.1042/BJ20102153
-
(2011)
Biochem. J
, vol.436
, pp. 415-428
-
-
Ma, L.1
Rychkov, G.Y.2
Bykova, E.A.3
Zheng, J.4
Bretag, A.H.5
-
104
-
-
0033873930
-
A decade of CLC chloride channels: Structure, mechanism, and many unsettled questions
-
Maduke, M., Miller, C., and Mindell, J. A. (2000). A decade of CLC chloride channels: structure, mechanism, and many unsettled questions. Annu. Rev. Biophys. Biomol. Struct. 29, 411-438.doi: 10.1146/annurev.biophys.29.1.411
-
(2000)
Annu. Rev. Biophys. Biomol. Struct
, vol.29
, pp. 411-438
-
-
Maduke, M.1
Miller, C.2
Mindell, J.A.3
-
105
-
-
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., 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, 35-44.doi: 10.1016/S1097-2765(02)00563-4
-
(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
-
106
-
-
84908121114
-
Clinical Experience With Long-Term Acetazolamide Treatment in Children With Nondystrophic Myotonias: A three-case report
-
Markhorst, J. M., Stunnenberg, B. C., Ginjaar, I. B., Drost, G., Erasmus, C. E., and Sie, L. T. (2014). Clinical Experience With Long-Term Acetazolamide Treatment in Children With Nondystrophic Myotonias: a three-case report. Pediatr. Neurol. 51, 537-541.doi: 10.1016/j.pediatrneurol.2014.05.027
-
(2014)
Pediatr. Neurol
, vol.51
, pp. 537-541
-
-
Markhorst, J.M.1
Stunnenberg, B.C.2
Ginjaar, I.B.3
Drost, G.4
Erasmus, C.E.5
Sie, L.T.6
-
107
-
-
34249913169
-
The structure of the cytoplasmic domain of the chloride channel ClC-Ka reveals a conserved interaction interface
-
Markovic, S., and Dutzler, R. (2007). The structure of the cytoplasmic domain of the chloride channel ClC-Ka reveals a conserved interaction interface. Structure 15, 715-725.doi: 10.1016/j.str.2007.04.013
-
(2007)
Structure
, vol.15
, pp. 715-725
-
-
Markovic, S.1
Dutzler, R.2
-
108
-
-
74249111904
-
The non-dystrophic myotonias: Molecular pathogenesis, diagnosis and treatment
-
Matthews, E., Fialho, D., Tan, S. V., Venance, S. L., Cannon, S. C., Sternberg, D., et al. (2010). The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. Brain 133, 9-22.doi: 10.1093/brain/awp294
-
(2010)
Brain
, vol.133
, pp. 9-22
-
-
Matthews, E.1
Fialho, D.2
Tan, S.V.3
Venance, S.L.4
Cannon, S.C.5
Sternberg, D.6
-
109
-
-
84858082557
-
Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene. Neuromuscul
-
Mazón, M. J., Barros, F., De la Peña, P., Quesada, J. F., Escudero, A., Cobo, A. M., et al. (2012). Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene. Neuromuscul. Disord. 22, 231-243.doi: 10.1016/j.nmd.2011.10.013
-
(2012)
Disord
, vol.22
, pp. 231-243
-
-
Mazón, M.J.1
Barros, F.2
De La Peña, P.3
Quesada, J.F.4
Escudero, A.5
Cobo, A.M.6
-
110
-
-
84900851162
-
Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies
-
Meola, G. (2013). Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies. Acta Myol. 32, 154-165.
-
(2013)
Acta Myol
, vol.32
, pp. 154-165
-
-
Meola, G.1
-
111
-
-
84922276167
-
Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms
-
Meola, G., and Cardani, R. (2014). Myotonic dystrophies: an update on clinical aspects, genetic, pathology, and molecular pathomechanisms. Biochim. Biophys. Acta 1852, 594-606.doi: 10.1016/j.bbadis.2014.05.019.
-
(2014)
Biochim. Biophys. Acta
, vol.1852
, pp. 594-606
-
-
Meola, G.1
Cardani, R.2
-
112
-
-
32044449196
-
Crystal structure of the cytoplasmic domain of the chloride channel ClC-0
-
Meyer, S., and Dutzler, R. (2006). Crystal structure of the cytoplasmic domain of the chloride channel ClC-0. Structure 14, 299-307.doi: 10.1016/j.str.2005.10.008
-
(2006)
Structure
, vol.14
, pp. 299-307
-
-
Meyer, S.1
Dutzler, R.2
-
113
-
-
0029661878
-
Homodimeric architecture of a ClC-type chloride ion channel
-
Middleton, R. E., Pheasant, D. J., and Miller, C. (1996). Homodimeric architecture of a ClC-type chloride ion channel. Nature 383, 337-340.doi: 10.1038/383337a0
-
(1996)
Nature
, vol.383
, pp. 337-340
-
-
Middleton, R.E.1
Pheasant, D.J.2
Miller, C.3
-
114
-
-
0020440405
-
Open-state substructure of single chloride channels from Torpedo electroplax
-
Miller, C. (1982). Open-state substructure of single chloride channels from Torpedo electroplax. Philos. Trans. R. Soc. Lond. B. Biol. Sci. 299, 401-411.doi: 10.1098/rstb.1982.0140
-
(1982)
Philos. Trans. R. Soc. Lond. B. Biol. Sci
, vol.299
, pp. 401-411
-
-
Miller, C.1
-
115
-
-
0021180163
-
Dimeric structure of single chloride channels from Torpedo electroplax
-
Miller, C., and White, M. M. (1984). Dimeric structure of single chloride channels from Torpedo electroplax. Proc. Natl. Acad. Sci. U.S.A. 81, 2772-2775.doi: 10.1073/pnas.81.9.2772
-
(1984)
Proc. Natl. Acad. Sci. U.S.A
, vol.81
, pp. 2772-2775
-
-
Miller, C.1
White, M.M.2
-
116
-
-
79951683127
-
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita
-
Modoni, A., D’Amico, A., Dallapiccola, B., Mereu, M. L., Merlini, L., Pagliarani, S., et al. (2011). Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita. J. Clin. Neurophysiol. 28, 39-44.doi: 10.1097/WNP.0b013e31820510d7
-
(2011)
J. Clin. Neurophysiol
, vol.28
, pp. 39-44
-
-
Modoni, A.1
D’Amico, A.2
Dallapiccola, B.3
Mereu, M.L.4
Merlini, L.5
Pagliarani, S.6
-
117
-
-
77954357979
-
The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression
-
Neagoe, I., Stauber, T., Fidzinski, P., Bergsdorf, E. Y., and Jentsch, T. J. (2010). The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression. J. Biol. Chem. 285, 21689-21697.doi: 10.1074/jbc.M110.125971
-
(2010)
J. Biol. Chem
, vol.285
, pp. 21689-21697
-
-
Neagoe, I.1
Stauber, T.2
Fidzinski, P.3
Bergsdorf, E.Y.4
Jentsch, T.J.5
-
118
-
-
0035476873
-
Protective effects of lactic acid on force production in rat skeletal muscle
-
Nielsen, O. B., de Paoli, F., and Overgaard, K. (2001). Protective effects of lactic acid on force production in rat skeletal muscle. J. Physiol. 536, 161-166.doi: 10.1111/j.1469-7793.2001.t01-1-00161.x
-
(2001)
J. Physiol
, vol.536
, pp. 161-166
-
-
Nielsen, O.B.1
De Paoli, F.2
Overgaard, K.3
-
119
-
-
10044248406
-
Regulated sarcolemmal localization of the muscle-specific ClC-1 chloride channel
-
Papponen, H., Kaisto, T., Myllylä, V. V., Myllylä, R., and Metsikkö, K. (2005). Regulated sarcolemmal localization of the muscle-specific ClC-1 chloride channel. Exp. Neurol. 191, 163-173.doi: 10.1016/j.expneurol.2004.07.018
-
(2005)
Exp. Neurol
, vol.191
, pp. 163-173
-
-
Papponen, H.1
Kaisto, T.2
Myllylä, V.V.3
Myllylä, R.4
Metsikkö, K.5
-
120
-
-
39749157302
-
F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle-specific chloride channel CLC-1
-
Papponen, H., Nissinen, M., Kaisto, T., Myllylä, V. V., Myllylä, R., and Metsikkö, K. (2008). F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle-specific chloride channel CLC-1. Muscle Nerve 37, 317-325.doi: 10.1002/mus.20922
-
(2008)
Muscle Nerve
, vol.37
, pp. 317-325
-
-
Papponen, H.1
Nissinen, M.2
Kaisto, T.3
Myllylä, V.V.4
Myllylä, R.5
Metsikkö, K.6
-
121
-
-
70349640057
-
Regulation of ClC-1 and KATP channels in action potential-firing fast-twitch muscle fibers
-
Pedersen, T. H., de Paoli, F. V., Flatman, J. A., and Nielsen, O. B. (2009a). Regulation of ClC-1 and KATP channels in action potential-firing fast-twitch muscle fibers. J. Gen. Physiol. 134, 309-322.doi: 10.1085/jgp.200910290
-
(2009)
J. Gen. Physiol
, vol.134
, pp. 309-322
-
-
Pedersen, T.H.1
De Paoli, F.V.2
Flatman, J.A.3
Nielsen, O.B.4
-
122
-
-
70349640058
-
Comparison of regulated passive membrane conductance in action potential-firing fastand slow-twitch muscle
-
Pedersen, T. H., Macdonald, W. A., de Paoli, F. V., Gurung, I. S., and Nielsen, O. B. (2009b). Comparison of regulated passive membrane conductance in action potential-firing fastand slow-twitch muscle. J. Gen. Physiol. 134, 323-337.doi: 10.1085/jgp.200910291
-
(2009)
J. Gen. Physiol
, vol.134
, pp. 323-337
-
-
Pedersen, T.H.1
Macdonald, W.A.2
De Paoli, F.V.3
Gurung, I.S.4
Nielsen, O.B.5
-
123
-
-
13544272019
-
Increased excitability of acidified skeletal muscle: Role of chloride conductance
-
Pedersen, T. H., de Paoli, F., and Nielsen, O. B. (2005). Increased excitability of acidified skeletal muscle: role of chloride conductance. J. Gen. Physiol. 125, 237-246.doi: 10.1085/jgp.200409173
-
(2005)
J. Gen. Physiol
, vol.125
, pp. 237-246
-
-
Pedersen, T.H.1
De Paoli, F.2
Nielsen, O.B.3
-
124
-
-
4143135203
-
Intracellular acidosis enhances the excitability of working muscle
-
Pedersen, T. H., Nielsen, O. B., Lamb, G. D., and Stephenson, D. G. (2004). Intracellular acidosis enhances the excitability of working muscle. Science 305, 1144-1147.doi: 10.1126/science.1101141
-
(2004)
Science
, vol.305
, pp. 1144-1147
-
-
Pedersen, T.H.1
Nielsen, O.B.2
Lamb, G.D.3
Stephenson, D.G.4
-
125
-
-
22944475536
-
Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5
-
Picollo, A., and Pusch, M. (2005). Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5. Nature 436, 420-423.doi: 10.1038/nature03720
-
(2005)
Nature
, vol.436
, pp. 420-423
-
-
Picollo, A.1
Pusch, M.2
-
126
-
-
68749085959
-
Statins and fenofibrate affect skeletal muscle chloride conductance in rats by differently impairing ClC-1 channel regulation and expression
-
Pierno, S., Camerino, G. M., Cippone, V., Rolland, J.-F., Desaphy, J.-F., De Luca, A., et al. (2009). Statins and fenofibrate affect skeletal muscle chloride conductance in rats by differently impairing ClC-1 channel regulation and expression. Br. J. Pharmacol. 156, 1206-1215.doi: 10.1111/j.1476-5381.2008.00079.x
-
(2009)
Br. J. Pharmacol
, vol.156
, pp. 1206-1215
-
-
Pierno, S.1
Camerino, G.M.2
Cippone, V.3
Rolland, J.-F.4
Desaphy, J.-F.5
De Luca, A.6
-
127
-
-
0032915432
-
Aging-associated down-regulation of ClC-1 expression in skeletal muscle: Phenotypic-independent relation to the decrease of chloride conductance
-
Pierno, S., De Luca, A., Beck, C. L., George, A.L. Jr., and Conte Camerino, D. (1999). Aging-associated down-regulation of ClC-1 expression in skeletal muscle: phenotypic-independent relation to the decrease of chloride conductance. FEBS Lett. 449, 12-16.doi: 10.1016/S0014-5793(99)00202-1
-
(1999)
FEBS Lett
, vol.449
, pp. 12-16
-
-
Pierno, S.1
De Luca, A.2
Beck, C.L.3
George, A.L.4
Conte Camerino, D.5
-
128
-
-
0032161184
-
Chronic administration of taurine to aged rats improves the electrical and contractile properties of skeletal muscle fibers
-
Pierno, S., De Luca, A., Camerino, C., Huxtable, R. J., and Camerino, D. C. (1998). Chronic administration of taurine to aged rats improves the electrical and contractile properties of skeletal muscle fibers. J. Pharmacol. Exp. Ther. 286, 1183-1190.
-
(1998)
J. Pharmacol. Exp. Ther
, vol.286
, pp. 1183-1190
-
-
Pierno, S.1
De Luca, A.2
Camerino, C.3
Huxtable, R.J.4
Camerino, D.C.5
-
129
-
-
10744222483
-
Growth hormone secretagogues modulate the electrical and contractile properties of rat skeletal muscle through a ghrelin-specific receptor
-
Pierno, S., De Luca, A., Desaphy, J.-F., Fraysse, B., Liantonio, A., Didonna, M. P., et al. (2003). Growth hormone secretagogues modulate the electrical and contractile properties of rat skeletal muscle through a ghrelin-specific receptor. Br. J. Pharmacol. 139, 575-584.doi: 10.1038/sj.bjp.0705284
-
(2003)
Br. J. Pharmacol
, vol.139
, pp. 575-584
-
-
Pierno, S.1
De Luca, A.2
Desaphy, J.-F.3
Fraysse, B.4
Liantonio, A.5
Didonna, M.P.6
-
130
-
-
0036310087
-
Change of chloride ion channel conductance is an early event of slow-to-fast fibre type transition during unloading-induced muscle disuse
-
Pierno, S., Desaphy, J.-F., Liantonio, A., De Bellis, M., Bianco, G., De Luca, A., et al. (2002). Change of chloride ion channel conductance is an early event of slow-to-fast fibre type transition during unloading-induced muscle disuse. Brain 125, 1510-1521.doi: 10.1093/brain/awf162
-
(2002)
Brain
, vol.125
, pp. 1510-1521
-
-
Pierno, S.1
Desaphy, J.-F.2
Liantonio, A.3
De Bellis, M.4
Bianco, G.5
De Luca, A.6
-
131
-
-
35648980456
-
Disuse of rat muscle in vivo reduces protein kinase C activity controlling the sarcolemma chloride conductance
-
Pierno, S., Desaphy, J.-F., Liantonio, A., De Luca, A., Zarrilli, A., Mastrofrancesco, L., et al. (2007). Disuse of rat muscle in vivo reduces protein kinase C activity controlling the sarcolemma chloride conductance. J. Physiol. 584, 983-995.doi: 10.1113/jphysiol.2007.141358
-
(2007)
J. Physiol
, vol.584
, pp. 983-995
-
-
Pierno, S.1
Desaphy, J.-F.2
Liantonio, A.3
De Luca, A.4
Zarrilli, A.5
Mastrofrancesco, L.6
-
132
-
-
33845191992
-
Effects of chronic treatment with statins and fenofibrate on rat skeletal muscle: A biochemical, histological and electrophysiological study
-
Pierno, S., Didonna, M. P., Cippone, V., De Luca, A., Pisoni, M., Frigeri, A., et al. (2006). Effects of chronic treatment with statins and fenofibrate on rat skeletal muscle: a biochemical, histological and electrophysiological study. Br. J. Pharmacol. 149, 909-919.doi: 10.1038/sj.bjp.0706917
-
(2006)
Br. J. Pharmacol
, vol.149
, pp. 909-919
-
-
Pierno, S.1
Didonna, M.P.2
Cippone, V.3
De Luca, A.4
Pisoni, M.5
Frigeri, A.6
-
133
-
-
84899111221
-
An olive oil-derived antioxidant mixture ameliorates the age-related decline of skeletal muscle function
-
Pierno, S., Tricarico, D., Liantonio, A., Mele, A., Digennaro, C., Rolland, J.-F., et al. (2014). An olive oil-derived antioxidant mixture ameliorates the age-related decline of skeletal muscle function. Age (Dordr.) 36, 73-88.doi: 10.1007/s11357-013-9544-9
-
(2014)
Age (Dordr.)
, vol.36
, pp. 73-88
-
-
Pierno, S.1
Tricarico, D.2
Liantonio, A.3
Mele, A.4
Digennaro, C.5
Rolland, J.-F.6
-
134
-
-
0036193436
-
Myotonia caused by mutations in the muscle chloride channel gene ClCN1
-
Pusch, M. (2002). Myotonia caused by mutations in the muscle chloride channel gene ClCN1. Hum. Mut. 19, 423-434.doi: 10.1002/humu.10063
-
(2002)
Hum. Mut
, vol.19
, pp. 423-434
-
-
Pusch, M.1
-
135
-
-
0034930508
-
Mechanism of block of single protopores of the Torpedo chloride channel ClC-0 by 2-(P chlorophenoxy)butyric acid (CPB)
-
Pusch, M., Accardi, A., Liantonio, A., Ferrera, L., De Luca, A., Camerino, D. C., et al. (2001). Mechanism of block of single protopores of the Torpedo chloride channel ClC-0 by 2-(p chlorophenoxy)butyric acid (CPB). J. Gen. Physiol. 118, 45-62.doi: 10.1085/jgp.118.1.45
-
(2001)
J. Gen. Physiol
, vol.118
, pp. 45-62
-
-
Pusch, M.1
Accardi, A.2
Liantonio, A.3
Ferrera, L.4
De Luca, A.5
Camerino, D.C.6
-
136
-
-
0033851904
-
Pharmacological characterization of chloride channels belonging to the ClC family by the use of chiral clofibric acid derivatives. Mol
-
Pusch, M., Liantonio, A., Bertorello, L., Accardi, A., De Luca, A., Pierno, S., et al. (2000). Pharmacological characterization of chloride channels belonging to the ClC family by the use of chiral clofibric acid derivatives. Mol. Pharmacol. 58, 498-507.
-
(2000)
Pharmacol
, vol.58
, pp. 498-507
-
-
Pusch, M.1
Liantonio, A.2
Bertorello, L.3
Accardi, A.4
De Luca, A.5
Pierno, S.6
-
137
-
-
0028040145
-
Low single channel conductance of the major skeletal muscle chloride channel
-
Pusch, M., Steinmeyer, K., and Jentsch, T. J. (1994). Low single channel conductance of the major skeletal muscle chloride channel, ClC-1. Biophys. J. 66, 149-152.doi: 10.1016/S0006-3495(94)80753-2
-
(1994)
Clc-1. Biophys. J
, vol.66
, pp. 149-152
-
-
Pusch, M.1
Steinmeyer, K.2
Jentsch, T.J.3
-
138
-
-
77956393231
-
Skeletal muscle channelopathies: Nondystrophic myotonias and periodic paralysis
-
Raja Rayan, D. L., and Hanna, M. G. (2010). Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis. Curr. Opin. Neurol. 23, 466-476.doi: 10.1097/WCO.0b013e32833cc97e
-
(2010)
Curr. Opin. Neurol
, vol.23
, pp. 466-476
-
-
Raja Rayan, D.L.1
Hanna, M.G.2
-
139
-
-
84863570675
-
A new explanation for recessive myotonia congenita: Exon deletions and duplications in CLCN1
-
Raja Rayan, D. L., Haworth, A., Sud, R., Matthews, E., Fialho, D., Burge, J., et al. (2012). A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1. Neurology 78, 1953-1958.doi: 10.1212/WNL.0b013e318259e19c
-
(2012)
Neurology
, vol.78
, pp. 1953-1958
-
-
Raja Rayan, D.L.1
Haworth, A.2
Sud, R.3
Matthews, E.4
Fialho, D.5
Burge, J.6
-
140
-
-
0026355579
-
Calcium and magnesium in pregnancy
-
Raman, L., Yasodhara, P., and Ramaraju, L. A. (1991). Calcium and magnesium in pregnancy. Nutr. Res. 11, 1231-1236.doi: 10.1016/S0271-5317(05)80542-1
-
(1991)
Nutr. Res
, vol.11
, pp. 1231-1236
-
-
Raman, L.1
Yasodhara, P.2
Ramaraju, L.A.3
-
141
-
-
0030922504
-
Dihydropyridine receptorryanodine receptor uncoupling in aged skeletal muscle
-
Renganathan, M., Messi, M. L., and Delbono, O. (1997). Dihydropyridine receptorryanodine receptor uncoupling in aged skeletal muscle. J. Membr. Biol. 157, 247-253.doi: 10.1007/s002329900233
-
(1997)
J. Membr. Biol
, vol.157
, pp. 247-253
-
-
Renganathan, M.1
Messi, M.L.2
Delbono, O.3
-
142
-
-
0032813687
-
A missense mutation in canine ClC-1 causes recessive myotonia congenita in the dog
-
Rhodes, T. H., Vite, C. H., Giger, U., Patterson, D. F., Fahlke, C., and George, A. L. Jr. (1999). A missense mutation in canine ClC-1 causes recessive myotonia congenita in the dog. FEBS Lett. 456, 54-58.doi: 10.1016/S0014-5793(99)00926-6
-
(1999)
FEBS Lett
, vol.456
, pp. 54-58
-
-
Rhodes, T.H.1
Vite, C.H.2
Giger, U.3
Patterson, D.F.4
Fahlke, C.5
George, A.L.6
-
143
-
-
78650171241
-
Design, function and structure of a monomeric ClC transporter
-
Robertson, J. L., Kolmakova-Partensky, L., and Miller, C. (2010). Design, function and structure of a monomeric ClC transporter. Nature 468, 844-847.doi: 10.1038/nature09556
-
(2010)
Nature
, vol.468
, pp. 844-847
-
-
Robertson, J.L.1
Kolmakova-Partensky, L.2
Miller, C.3
-
144
-
-
0344820780
-
Regulation of the human skeletal muscle chloride channel hClC-1 by protein kinase C
-
Rosenbohm, A., Rüdel, R., and Fahlke, C. (1999). Regulation of the human skeletal muscle chloride channel hClC-1 by protein kinase C. J. Physiol. 514, 677-685.doi: 10.1111/j.1469-7793.1999.677ad.x
-
(1999)
J. Physiol
, vol.514
, pp. 677-685
-
-
Rosenbohm, A.1
Rüdel, R.2
Fahlke, C.3
-
145
-
-
0029961958
-
Concentration and pH dependence of skeletal muscle chloride channel ClC-1
-
Rychkov, G. Y., Pusch, M., Astill, D. S., Roberts, M. L., Jentsch, T. J., and Bretag, A. H. (1996). Concentration and pH dependence of skeletal muscle chloride channel ClC-1. J. Physiol. 497, 423-435.doi: 10.1113/jphysiol.1996.sp021778
-
(1996)
J. Physiol
, vol.497
, pp. 423-435
-
-
Rychkov, G.Y.1
Pusch, M.2
Astill, D.S.3
Roberts, M.L.4
Jentsch, T.J.5
Bretag, A.H.6
-
146
-
-
0022522996
-
Fast to slow transition induced by experimental myotonia in rat EDL muscle
-
Salviati, G., Biasia, E., Betto, R., and Danieli Betto, D. (1986). Fast to slow transition induced by experimental myotonia in rat EDL muscle. Pflugers. Arch. 406, 266-272.doi: 10.1007/BF00640912
-
(1986)
Pflugers. Arch
, vol.406
, pp. 266-272
-
-
Salviati, G.1
Biasia, E.2
Betto, R.3
Danieli Betto, D.4
-
147
-
-
0032242278
-
Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita
-
Sangiuolo, F., Botta, A., Mesoraca, A., Servidei, S., Merlini, L., Fratta, G., et al. (1998). Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Hum. Mutat. 11, 331.doi: 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU13>3.0.CO;2-0
-
(1998)
Hum. Mutat
, vol.11
, pp. 331
-
-
Sangiuolo, F.1
Botta, A.2
Mesoraca, A.3
Servidei, S.4
Merlini, L.5
Fratta, G.6
-
148
-
-
0032921415
-
The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia
-
Saviane, C., Conti, F., and Pusch, M. (1999). The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia. J. Gen. Physiol. 113, 457-468.doi: 10.1085/jgp.113.3.457
-
(1999)
J. Gen. Physiol
, vol.113
, pp. 457-468
-
-
Saviane, C.1
Conti, F.2
Pusch, M.3
-
149
-
-
22944479662
-
Voltage-dependent electrogenic chloride/protonexchange by endosomal CLCproteins
-
Scheel, O., Zdebik, A. A., Lourdel, S., and Jentsch, T. J. (2005). Voltage-dependent electrogenic chloride/protonexchange by endosomal CLCproteins. Nature 436, 424-427.doi: 10.1038/nature03860
-
(2005)
Nature
, vol.436
, pp. 424-427
-
-
Scheel, O.1
Zdebik, A.A.2
Lourdel, S.3
Jentsch, T.J.4
-
150
-
-
6044269175
-
Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression
-
Simpson, B. J., Height, T. A., Rychkov, G. Y., Nowak, K. J., Laing, N. G., Hughes, B. P., et al. (2004). Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression. Hum. Mutat. 24, 185-191.doi: 10.1002/humu.9260
-
(2004)
Hum. Mutat
, vol.24
, pp. 185-191
-
-
Simpson, B.J.1
Height, T.A.2
Rychkov, G.Y.3
Nowak, K.J.4
Laing, N.G.5
Hughes, B.P.6
-
151
-
-
84892403126
-
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel
-
Skálová, D., Zídková, J., Voháňka, S., Mazanec, R., Mušová, Z., Vondráček, P., et al. (2013). CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel. PLoS ONE 8:e82549.doi: 10.1371/journal.pone.0082549. eCollection 2013
-
(2013)
Plos ONE
, vol.8
-
-
Skálová, D.1
Zídková, J.2
Voháňka, S.3
Mazanec, R.4
Mušová, Z.5
Vondráček, P.6
-
152
-
-
84916899865
-
Extracellular magnesium and calcium reduce myotonia in isolated ClC-1 chloride channel-inhibited human muscle
-
Skov, M., De Paoli, F. V., Lausten, J., Nielsen, O. B., and Pedersen, T. H. (2015). Extracellular magnesium and calcium reduce myotonia in isolated ClC-1 chloride channel-inhibited human muscle. Muscle Nerve 51, 65-71.doi: 10.1002/mus.24260
-
(2015)
Muscle Nerve
, vol.51
, pp. 65-71
-
-
Skov, M.1
De Paoli, F.V.2
Lausten, J.3
Nielsen, O.B.4
Pedersen, T.H.5
-
153
-
-
84878630639
-
Extracellular magnesium and calcium reduce myotonia in ClC-1 inhibited rat muscle. Neuromuscul
-
Skov, M., Riisager, A., Fraser, J. A., Nielsen, O. B., and Pedersen, T. H. (2013). Extracellular magnesium and calcium reduce myotonia in ClC-1 inhibited rat muscle. Neuromuscul. Disord. 23, 489-502.doi: 10.1016/j.nmd.2013.03.009
-
(2013)
Disord
, vol.23
, pp. 489-502
-
-
Skov, M.1
Riisager, A.2
Fraser, J.A.3
Nielsen, O.B.4
Pedersen, T.H.5
-
154
-
-
84866919087
-
Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: A randomized controlled trial
-
Statland, J. M., Bundy, B. N., Wang, Y., Rayan, D. R., Trivedi, J. R., Sansone, V. A., et al. (2012). Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial. JAMA 308, 1357-1365.doi: 10.1001/jama.2012.12607
-
(2012)
JAMA
, vol.308
, pp. 1357-1365
-
-
Statland, J.M.1
Bundy, B.N.2
Wang, Y.3
Rayan, D.R.4
Trivedi, J.R.5
Sansone, V.A.6
-
155
-
-
0026039594
-
Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel
-
Steinmeyer, K., Ortland, C., and Jentsch, T. J. (1991a). Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel. Nature 354, 301-304.doi: 10.1038/354301a0
-
(1991)
Nature
, vol.354
, pp. 301-304
-
-
Steinmeyer, K.1
Ortland, C.2
Jentsch, T.J.3
-
156
-
-
0025932612
-
Inactivation of muscle chloride channel by transposon insertion in myotonic mice
-
Steinmeyer, K., Klocke, R., Ortland, C., Gronemeier, M., Jockusch, H., Grunder, S., et al. (1991b). Inactivation of muscle chloride channel by transposon insertion in myotonic mice. Nature 354, 304-308.doi: 10.1038/354304a0
-
(1991)
Nature
, vol.354
, pp. 304-308
-
-
Steinmeyer, K.1
Klocke, R.2
Ortland, C.3
Gronemeier, M.4
Jockusch, H.5
Grunder, S.6
-
157
-
-
84912011877
-
ClC-1 and ClC-2 form hetero-dimeric channels with novel protopore functions
-
Stölting, G., Fischer, M., and Fahlke, C. (2014a). ClC-1 and ClC-2 form hetero-dimeric channels with novel protopore functions. Pflugers. Arch. 466, 2191-2204.doi: 10.1007/s00424-014-1490-6
-
(2014)
Pflugers. Arch
, vol.466
, pp. 2191-2204
-
-
Stölting, G.1
Fischer, M.2
Fahlke, C.3
-
158
-
-
84908417266
-
CLC channel function and dysfunction in health and disease
-
Stölting, G., Fischer, M., and Fahlke, C. (2014b). CLC channel function and dysfunction in health and disease. Front. Physiol. 5:378.doi: 10.3389/fphys.2014.00378
-
(2014)
Front. Physiol
, vol.5
, pp. 378
-
-
Stölting, G.1
Fischer, M.2
Fahlke, C.3
-
159
-
-
58549088977
-
High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany
-
Suominen, T., Schoser, B., Raheem, O., Auvinen, S., Walter, M., Krahe, R., et al. (2008). High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany. J. Neurol. 255, 1731-1736.doi: 10.1007/s00415-008-0010-z
-
(2008)
J. Neurol
, vol.255
, pp. 1731-1736
-
-
Suominen, T.1
Schoser, B.2
Raheem, O.3
Auvinen, S.4
Walter, M.5
Krahe, R.6
-
160
-
-
0033843765
-
Acetazolamide opens the muscular KCa2+ channel: A novel mechanism of action that may explain the therapeutic effect of the drug in hypokalemic periodic paralysis
-
Tricarico, D., Barbieri, M., and Camerino, D. C. (2000). Acetazolamide opens the muscular KCa2+ channel: a novel mechanism of action that may explain the therapeutic effect of the drug in hypokalemic periodic paralysis. Ann. Neurol. 48, 304-312.doi: 10.1002/1531-8249(200009)48:3<304::AID-ANA4>3.0.CO;2-A
-
(2000)
Ann. Neurol
, vol.48
, pp. 304-312
-
-
Tricarico, D.1
Barbieri, M.2
Camerino, D.C.3
-
161
-
-
0028062087
-
ATP-sensitive K+ channels of skeletal muscle fibers from young adult and aged rats: Possible involvement of thiol-dependent redox mechanisms in the age-related modifications of their biophysical and pharmacological properties
-
Tricarico, D., and Camerino, D. C. (1994). ATP-sensitive K+ channels of skeletal muscle fibers from young adult and aged rats: possible involvement of thiol-dependent redox mechanisms in the age-related modifications of their biophysical and pharmacological properties. Mol. Pharmacol. 46, 754-761.
-
(1994)
Mol. Pharmacol
, vol.46
, pp. 754-761
-
-
Tricarico, D.1
Camerino, D.C.2
-
162
-
-
0025872417
-
Modulation of rat skeletal muscle chloride channels by activators and inhibitors of protein kinase C
-
Tricarico, D., Conte Camerino. D., Govoni, S., and Bryant, S. H. (1991). Modulation of rat skeletal muscle chloride channels by activators and inhibitors of protein kinase C. Pflugers. Arch. 418, 500-503.doi: 10.1007/BF00497778
-
(1991)
Pflugers. Arch
, vol.418
, pp. 500-503
-
-
Tricarico, D.1
Conte, C.D.2
Govoni, S.3
Bryant, S.H.4
-
163
-
-
84891893330
-
Nondystrophic myotonia: Challenges and future directions
-
Trivedi, J. R., Cannon, S. C., and Griggs, R. C. (2014). Nondystrophic myotonia: challenges and future directions. Exp. Neurol. 253, 28-30.doi: 10.1016/j.expneurol.2013.12.005
-
(2014)
Exp. Neurol
, vol.253
, pp. 28-30
-
-
Trivedi, J.R.1
Cannon, S.C.2
Griggs, R.C.3
-
164
-
-
34547632709
-
Cytoplasmic ATP inhibition of CLC-1 is enhanced by low pH
-
Tseng, P. Y., Bennetts, B., and Chen, T. Y. (2007). Cytoplasmic ATP inhibition of CLC-1 is enhanced by low pH. J. Gen. Physiol. 130, 217-221.doi: 10.1085/jgp.200709817
-
(2007)
J. Gen. Physiol
, vol.130
, pp. 217-221
-
-
Tseng, P.Y.1
Bennetts, B.2
Chen, T.Y.3
-
165
-
-
79953283287
-
A CLCN1 mutation in dominant myotonia congenita impairs the increment of chloride conductance during repetitive depolarization
-
Tsujino, A., Kaibara, M., Hayashi, H., Eguchi, H., Nakayama, S., Sato, K., et al. (2011). A CLCN1 mutation in dominant myotonia congenita impairs the increment of chloride conductance during repetitive depolarization. Neurosci. Lett. 494, 155-160.doi: 10.1016/j.neulet.2011.03.002
-
(2011)
Neurosci. Lett
, vol.494
, pp. 155-160
-
-
Tsujino, A.1
Kaibara, M.2
Hayashi, H.3
Eguchi, H.4
Nakayama, S.5
Sato, K.6
-
166
-
-
84861628808
-
Myotonia congenita: Novel mutations in CLCN1 gene and func-tional characterizations in Italian patients
-
Ulzi, G., Lecchi, M., Sansone, V., Redaelli, E., Corti, E., Saccomanno, D., et al. (2012). Myotonia congenita: novel mutations in CLCN1 gene and func-tional characterizations in Italian patients. J. Neurol. Sci. 318, 65-71.doi: 10.1016/j.jns.2012.03.024
-
(2012)
J. Neurol. Sci
, vol.318
, pp. 65-71
-
-
Ulzi, G.1
Lecchi, M.2
Sansone, V.3
Redaelli, E.4
Corti, E.5
Saccomanno, D.6
-
167
-
-
84869188100
-
ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro
-
Ursu, S. F., Alekov, A., Mao, N. H., and Jurkat-Rott, K. (2012). ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro. Acta Myol. 31, 144-153.
-
(2012)
Acta Myol
, vol.31
, pp. 144-153
-
-
Ursu, S.F.1
Alekov, A.2
Mao, N.H.3
Jurkat-Rott, K.4
-
168
-
-
84878459469
-
Huntington disease skeletal muscle is hyperexcitable owing to chloride and potassium channel dysfunction
-
Waters, C. W., Varuzhanyan, G., Talmadge, R. J., and Voss, A. A. (2013). Huntington disease skeletal muscle is hyperexcitable owing to chloride and potassium channel dysfunction. Proc. Natl. Acad. Sci. U.S.A. 110, 9160-9165.doi: 10.1073/pnas.1220068110
-
(2013)
Proc. Natl. Acad. Sci. U.S.A
, vol.110
, pp. 9160-9165
-
-
Waters, C.W.1
Varuzhanyan, G.2
Talmadge, R.J.3
Voss, A.A.4
-
169
-
-
84864302396
-
Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita
-
Weinberger, S., Wojciechowski, D., Sternberg, D., Lehmann-Horn, F., Jurkat-Rott, K., Becher, T., et al. (2012). Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita. J. Physiol. 590, 3449-3464.doi: 10.1113/jphysiol.2012.232785
-
(2012)
J. Physiol
, vol.590
, pp. 3449-3464
-
-
Weinberger, S.1
Wojciechowski, D.2
Sternberg, D.3
Lehmann-Horn, F.4
Jurkat-Rott, K.5
Becher, T.6
-
170
-
-
36849035575
-
Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy
-
Wheeler, T. M., Lueck, J. D., Swanson, M. S., Dirksen, R. T., and Thornton, C. A. (2007). Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. J. Clin. Invest. 117, 3952-3957.doi: 10.1172/JCI33355
-
(2007)
J. Clin. Invest
, vol.117
, pp. 3952-3957
-
-
Wheeler, T.M.1
Lueck, J.D.2
Swanson, M.S.3
Dirksen, R.T.4
Thornton, C.A.5
-
171
-
-
0018801493
-
A voltage-gated anion channel from the electric organ of Torpedo californica
-
White, M. M., and Miller, C. (1979). A voltage-gated anion channel from the electric organ of Torpedo californica. J. Biol. Chem. 254, 10161-10166.
-
(1979)
J. Biol. Chem
, vol.254
, pp. 10161-10166
-
-
White, M.M.1
Miller, C.2
-
172
-
-
84858792748
-
A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony. Neuromuscul
-
Wijnberg, I. D., Owczarek-Lipska, M., Sacchetto, R., Mascarello, F., Pascoli, F., Grünberg, W., et al. (2012). A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony. Neuromuscul. Disord. 22, 361-367.doi: 10.1016/j.nmd.2011.10.001
-
(2012)
Disord
, vol.22
, pp. 361-367
-
-
Wijnberg, I.D.1
Owczarek-Lipska, M.2
Sacchetto, R.3
Mascarello, F.4
Pascoli, F.5
Grünberg, W.6
-
173
-
-
0036846792
-
Novel CLCN1 mutations with unique clinical and electrophysiological consequences
-
Wu, F. F., Ryan, A., Devaney, J., Warnstedt, M., Korade-Mirnics, Z., Poser, B., et al. (2002). Novel CLCN1 mutations with unique clinical and electrophysiological consequences. Brain 125, 2392-2407.doi: 10.1093/brain/awf246
-
(2002)
Brain
, vol.125
, pp. 2392-2407
-
-
Wu, F.F.1
Ryan, A.2
Devaney, J.3
Warnstedt, M.4
Korade-Mirnics, Z.5
Poser, B.6
-
174
-
-
53549088625
-
ATP inhibition of CLC-1 is controlled by oxidation and reduction
-
Zhang, X. D., Tseng, P. Y., and Chen, T. Y. (2008). ATP inhibition of CLC-1 is controlled by oxidation and reduction. J. Gen. Physiol. 132, 421-428.doi: 10.1085/jgp.200810023
-
(2008)
J. Gen. Physiol
, vol.132
, pp. 421-428
-
-
Zhang, X.D.1
Tseng, P.Y.2
Chen, T.Y.3
-
175
-
-
34548852606
-
CLC chloride channels and transporters: A biophysical and physiological perspective
-
Zifarelli, G., and Pusch, M. (2007). CLC chloride channels and transporters: a biophysical and physiological perspective. Rev. Physiol. Biochem. Pharmacol. 158, 23-76.doi: 10.1007/112_2006_0605
-
(2007)
Rev. Physiol. Biochem. Pharmacol
, vol.158
, pp. 23-76
-
-
Zifarelli, G.1
Pusch, M.2
-
176
-
-
38749130071
-
The muscle chloride channel ClC-1 is not directly regulated by intracellular ATP
-
Zifarelli, G., and Pusch, M. (2008). The muscle chloride channel ClC-1 is not directly regulated by intracellular ATP. J. Gen. Physiol. 131, 109-116.doi: 10.1085/jgp.200709899
-
(2008)
J. Gen. Physiol
, vol.131
, pp. 109-116
-
-
Zifarelli, G.1
Pusch, M.2
-
177
-
-
78650071705
-
Relaxing messages from the sarcolemma
-
Zifarelli, G., and Pusch, M. (2010). Relaxing messages from the sarcolemma. J. Gen. Physiol. 136, 593-596.doi: 10.1085/jgp.201010567
-
(2010)
J. Gen. Physiol
, vol.136
, pp. 593-596
-
-
Zifarelli, G.1
Pusch, M.2
|