-
1
-
-
36849036949
-
Mutations in sodium channel gene SCN9A cause a spectrum of human genetic pain disorders
-
J. P. H. Drenth, S. G. Waxman, Mutations in sodium channel gene SCN9A cause a spectrum of human genetic pain disorders. J. Clin. Invest. 117, 3603-3609 (2007).
-
(2007)
J. Clin. Invest.
, vol.117
, pp. 3603-3609
-
-
Drenth, J.P.H.1
Waxman, S.G.2
-
2
-
-
84871443483
-
The Nav1.7 sodium channel: From molecule to man
-
S. D. Dib-Hajj, Y. Yang, J. A. Black, S. G. Waxman, The Nav1.7 sodium channel: From molecule to man. Nat. Rev. Neurosci. 14, 49-62 (2013).
-
(2013)
Nat. Rev. Neurosci.
, vol.14
, pp. 49-62
-
-
Dib-Hajj, S.D.1
Yang, Y.2
Black, J.A.3
Waxman, S.G.4
-
3
-
-
84901234337
-
Painful and painless channelopathies
-
D. L. H. Bennett, C. G. Woods, Painful and painless channelopathies. Lancet Neurol. 13, 587-599 (2014).
-
(2014)
Lancet Neurol.
, vol.13
, pp. 587-599
-
-
Bennett, D.L.H.1
Woods, C.G.2
-
4
-
-
84964543261
-
Inherited erythromelalgia due to mutations in SCN9A: Natural history, clinical phenotype and somatosensory profile
-
A. McDonnell, B. Schulman, Z. Ali, S. D. Dib-Hajj, F. Brock, S. Cobain, T. Mainka, J. Vollert, S. Tarabar, S. G. Waxman, Inherited erythromelalgia due to mutations in SCN9A: Natural history, clinical phenotype and somatosensory profile. Brain 139(Pt. 4), 1052-1065 (2016).
-
(2016)
Brain
, vol.139
, pp. 1052-1065
-
-
McDonnell, A.1
Schulman, B.2
Ali, Z.3
Dib-Hajj, S.D.4
Brock, F.5
Cobain, S.6
Mainka, T.7
Vollert, J.8
Tarabar, S.9
Waxman, S.G.10
-
5
-
-
4644268452
-
Electrophysiological properties of mutant NaV1.7 sodium channels in a painful inherited neuropathy
-
T. R. Cummins, S. D. Dib-Hajj, S. G. Waxman, Electrophysiological properties of mutant NaV1.7 sodium channels in a painful inherited neuropathy. J. Neurosci. 24, 8232-8236 (2004).
-
(2004)
J. Neurosci.
, vol.24
, pp. 8232-8236
-
-
Cummins, T.R.1
Dib-Hajj, S.D.2
Waxman, S.G.3
-
6
-
-
84873168898
-
A novel SCN9A mutation responsible for primary erythromelalgia and is resistant to the treatment of sodium channel blockers
-
M.-T. Wu, P.-Y. Huang, C.-T. Yen, C.-C. Chen, M.-J. Lee, A novel SCN9A mutation responsible for primary erythromelalgia and is resistant to the treatment of sodium channel blockers. PLOS One 8, e55212 (2013).
-
(2013)
PLOS One
, vol.8
, pp. e55212
-
-
Wu, M.-T.1
Huang, P.-Y.2
Yen, C.-T.3
Chen, C.-C.4
Lee, M.-J.5
-
7
-
-
84875365389
-
A new Nav1. 7 mutation in an erythromelalgia patient
-
M. Estacion, Y. Yang, S. D. Dib-Hajj, L. Tyrrell, Z. Lin, Y. Yang, S. G. Waxman, A new Nav1. 7 mutation in an erythromelalgia patient. Biochem. Biophys. Res. Commun. 432, 99-104 (2013).
-
(2013)
Biochem. Biophys. Res. Commun.
, vol.432
, pp. 99-104
-
-
Estacion, M.1
Yang, Y.2
Dib-Hajj, S.D.3
Tyrrell, L.4
Lin, Z.5
Yang, Y.6
Waxman, S.G.7
-
8
-
-
84893086859
-
Inherited pain: Sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation
-
M. Eberhart, J. Nakajima, A. B. Klinger, C Neacsu, K. Hühne, A. O. O'Reilly, A. M. Kist, A. K. Lampe, K. Fischer, J. Gibson, C. Nau, A. Winterpacht, A. Lampert, Inherited pain: Sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation. J. Biol. Chem. 289, 1971-1980 (2014).
-
(2014)
J. Biol. Chem.
, vol.289
, pp. 1971-1980
-
-
Eberhart, M.1
Nakajima, J.2
Klinger, A.B.3
Neacsu, C.4
Hühne, K.5
O'Reilly, A.O.6
Kist, A.M.7
Lampe, A.K.8
Fischer, K.9
Gibson, J.10
Nau, C.11
Winterpacht, A.12
Lampert, A.13
-
9
-
-
84924871549
-
Erythromelalgia Mutation Q875E Stabilizes the Activated State of Sodium Channel Nav1
-
T. Stadler, A. O. O'Reilly, A. Lampert, Erythromelalgia Mutation Q875E Stabilizes the Activated State of Sodium Channel Nav1. 7. J. Biol. Chem. 290, 6316-6325 (2015).
-
(2015)
7. J. Biol. Chem.
, vol.290
, pp. 6316-6325
-
-
Stadler, T.1
O'Reilly, A.O.2
Lampert, A.3
-
10
-
-
84929692746
-
Novel SCN9A mutations underlying extreme pain phenotypes: Unexpected electrophysiological and clinical phenotype correlations
-
E. C. Emery, A. M. Habib, J. J. Cox, A. K. Nicholas, F. M. Gribble, C. G. Woods, F. Reimann, Novel SCN9A mutations underlying extreme pain phenotypes: Unexpected electrophysiological and clinical phenotype correlations. J. Neurosci. 35, 7674-7681 (2015).
-
(2015)
J. Neurosci.
, vol.35
, pp. 7674-7681
-
-
Emery, E.C.1
Habib, A.M.2
Cox, J.J.3
Nicholas, A.K.4
Gribble, F.M.5
Woods, C.G.6
Reimann, F.7
-
11
-
-
79251569257
-
Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Nav|34 peptidemediated resurgent sodium currents
-
J. W. Theile, B. W. Jarecki, B. W, A. D. Piekarz, T. R. Cummins, Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Nav|34 peptidemediated resurgent sodium currents. J. Physiol. 589, 597-608 (2011).
-
(2011)
J. Physiol.
, vol.589
, pp. 597-608
-
-
Theile, J.W.1
Jarecki, B.W.2
Piekarz, A.D.3
Cummins, T.R.4
-
12
-
-
68449097352
-
Transfection of rat or mouse neurons by biolistics or electroporation
-
S. D. Dib-Hajj, J. S. Choi, L. J. Macala, L. Tyrrell, J. A. Black, T. R. Cummins, S. G. Waxman, Transfection of rat or mouse neurons by biolistics or electroporation. Nat. Protoc. 4, 1118-1126 (2009).
-
(2009)
Nat. Protoc.
, vol.4
, pp. 1118-1126
-
-
Dib-Hajj, S.D.1
Choi, J.S.2
Macala, L.J.3
Tyrrell, L.4
Black, J.A.5
Cummins, T.R.6
Waxman, S.G.7
-
13
-
-
84863671840
-
Combined small-molecule inhibition accelerates developmental timing and converts human pluripotent stem cells into nociceptors
-
S. M. Chambers, Y. Qi, Y. Mica, L. Gabsang, X.-J. Zhang, L. Niu, J. Bilsland, L. Cao, E. Stevens, P. Whiting, S.-H. Shi, L. Studer, Combined small-molecule inhibition accelerates developmental timing and converts human pluripotent stem cells into nociceptors. Nat. Biotechnol. 30, 715-720 (2012).
-
(2012)
Nat. Biotechnol.
, vol.30
, pp. 715-720
-
-
Chambers, S.M.1
Qi, Y.2
Mica, Y.3
Gabsang, L.4
Zhang, X.-J.5
Niu, L.6
Bilsland, J.7
Cao, L.8
Stevens, E.9
Whiting, P.10
Shi, S.-H.11
Studer, L.12
-
14
-
-
84905491563
-
Characterizing human stem cell-derived sensory neurons at the single-cell level reveals their ion channel expression and utility in pain research
-
G. T. Young, A. Gutteridge, H. D. E. Fox, A. L. Wilbrey, L. Cao, L. T. Cho, A. R. Brown, C. L. Benn, L. R. Kammonen, J. H. Friedman, M. Bictash, P. Whiting, J. G. Bilsland, E. B. Stevens, Characterizing human stem cell-derived sensory neurons at the single-cell level reveals their ion channel expression and utility in pain research. Mol. Ther. 22, 1530-1543 (2014).
-
(2014)
Mol. Ther.
, vol.22
, pp. 1530-1543
-
-
Young, G.T.1
Gutteridge, A.2
Fox, H.D.E.3
Wilbrey, A.L.4
Cao, L.5
Cho, L.T.6
Brown, A.R.7
Benn, C.L.8
Kammonen, L.R.9
Friedman, J.H.10
Bictash, M.11
Whiting, P.12
Bilsland, J.G.13
Stevens, E.B.14
-
15
-
-
82455199147
-
Induced pluripotent stem cells-opportunities for disease modelling and drugdiscovery
-
M. Grskovic, A. Javaherian, B. Strulovici, G. Q. Daley, Induced pluripotent stem cells-Opportunities for disease modelling and drugdiscovery. Nat. Rev. Drug Discov. 10, 915-929 (2011).
-
(2011)
Nat. Rev. Drug Discov.
, vol.10
, pp. 915-929
-
-
Grskovic, M.1
Javaherian, A.2
Strulovici, B.3
Daley, G.Q.4
-
16
-
-
84936990375
-
From dish to bedside: Lessons learned while translating findings from a stem cell model of disease to a clinical trial
-
J. McNeish, J. P. Gardner, B. J. Wainger, C. J. Woolf, K. Eggan, From dish to bedside: Lessons learned while translating findings from a stem cell model of disease to a clinical trial. Cell Stem Cell 17, 8-10 (2015).
-
(2015)
Cell Stem Cell
, vol.17
, pp. 8-10
-
-
McNeish, J.1
Gardner, J.P.2
Wainger, B.J.3
Woolf, C.J.4
Eggan, K.5
-
17
-
-
67650090921
-
A novel Nav1. 7 mutation producing carbamazepine responsive erythromelalgia
-
T. Z. Fischer, E. S. Gilmore, M. Estacion, E. Eastman, S. Taylor, M. Melanson, S. D. Dib-Hajj, S. G. Waxman, A novel Nav1. 7 mutation producing carbamazepine responsive erythromelalgia. Ann Neurol. 65, 733-741 (2009).
-
(2009)
Ann Neurol.
, vol.65
, pp. 733-741
-
-
Fischer, T.Z.1
Gilmore, E.S.2
Estacion, M.3
Eastman, E.4
Taylor, S.5
Melanson, M.6
Dib-Hajj, S.D.7
Waxman, S.G.8
-
18
-
-
84155170863
-
Treatment of Nav1. 7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker
-
Y. P. Goldberg, N. Price, R. Namdari, C J. Cohen, M. H. Lamers, C Winters, J. Price, C E. Young, H. Verschoof, R. Sherrington, S. N. Pimstone, M. R. Hayden, Treatment of Nav1. 7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker. Pain 153, 80-85 (2012).
-
(2012)
Pain
, vol.153
, pp. 80-85
-
-
Goldberg, Y.P.1
Price, N.2
Namdari, R.3
Cohen, C.J.4
Lamers, M.H.5
Winters, C.6
Price, J.7
Young, C.E.8
Verschoof, H.9
Sherrington, R.10
Pimstone, S.N.11
Hayden, M.R.12
-
19
-
-
84896390677
-
Letter to the editor
-
Y. P. Goldberg, C. J. Cohen, R. Namdari, N. Price, J. A. Cadieux, C. Young, R. Sherrington, S. N. Pimstone, Letter to the Editor. Pain 155, 837-838 (2014).
-
(2014)
Pain
, vol.155
, pp. 837-838
-
-
Goldberg, Y.P.1
Cohen, C.J.2
Namdari, R.3
Price, N.4
Cadieux, J.A.5
Young, C.6
Sherrington, R.7
Pimstone, S.N.8
-
20
-
-
84900829414
-
Dynamic-clamp analysis of wildtype human Nav1. 7 and erythromelalgia mutant channel L858H
-
D. V. Vasylyev, C. Han, P. Zhao, S. Dib-Hajj, S. G. Waxman, Dynamic-clamp analysis of wildtype human Nav1. 7 and erythromelalgia mutant channel L858H. J. Neurophysiol. 111, 1429-1443 (2014).
-
(2014)
J. Neurophysiol.
, vol.111
, pp. 1429-1443
-
-
Vasylyev, D.V.1
Han, C.2
Zhao, P.3
Dib-Hajj, S.4
Waxman, S.G.5
-
21
-
-
23444443202
-
Gain-of-function mutation in Nav1. 7 in familial erythromelalgia induces bursting of sensory neurons
-
S. D. Dib Hajj, A. M. Rush, T. R. Cummins, F. M. Hisama, S. Novella, L. Tyrrell, L. Marshall, S. G. Waxman, Gain-of-function mutation in Nav1. 7 in familial erythromelalgia induces bursting of sensory neurons. Brain 128, 1847-1854 (2005).
-
(2005)
Brain
, vol.128
, pp. 1847-1854
-
-
Dib Hajj, S.D.1
Rush, A.M.2
Cummins, T.R.3
Hisama, F.M.4
Novella, S.5
Tyrrell, L.6
Marshall, L.7
Waxman, S.G.8
-
22
-
-
67650066369
-
Early and late-onset inherited erythromelalgia: Genotype-phenotype correlation
-
C. Han, S. D. Dib-Hajj, Z. Lin, Y. Li, E. M. Eastman, L. Tyrrell, X. Cao, Y. Yang, S. G. Waxman, Early and late-onset inherited erythromelalgia: Genotype-phenotype correlation. Brain 132, 1711-1722 (2009).
-
(2009)
Brain
, vol.132
, pp. 1711-1722
-
-
Han, C.1
Dib-Hajj, S.D.2
Lin, Z.3
Li, Y.4
Eastman, E.M.5
Tyrrell, L.6
Cao, X.7
Yang, Y.8
Waxman, S.G.9
-
23
-
-
84870798937
-
Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a NaV1
-
Y. Yang, S. D. Dib-Hajj, J. Zhang, Y. Zhang, L. Tyrrell, M. Estacion, S. G. Waxman, Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a NaV1. 7 mutant channel. Nat. Commun. 3, 1186 (2012).
-
(2012)
7 Mutant Channel. Nat. Commun.
, vol.3
, pp. 1186
-
-
Yang, Y.1
Dib-Hajj, S.D.2
Zhang, J.3
Zhang, Y.4
Tyrrell, L.5
Estacion, M.6
Waxman, S.G.7
-
24
-
-
0344559107
-
Pathological C-fibres in patients with a chronic painful condition
-
K. Ørstavik, C. Weidner, R. Schmidit, M. Schmelz, H. Hilloges, E. Jørum, H. Handwerker, E. Torebjörk, Pathological C-fibres in patients with a chronic painful condition. Brain 126, 567-578 (2003).
-
(2003)
Brain
, vol.126
, pp. 567-578
-
-
Ørstavik, K.1
Weidner, C.2
Schmidit, R.3
Schmelz, M.4
Hilloges, H.5
Jørum, E.6
Handwerker, H.7
Torebjörk, E.8
-
25
-
-
85038115063
-
Spontaneous impulse generation in C-nociceptors of familial erythromelalgia (FE) patients
-
O. Uyanik, C. Quiles, H. Bostock, S. D. Dib-Hajj, T. Fischer, L. Tyrrell, S. G. Waxman, J. Serra, Spontaneous impulse generation in C-nociceptors of familial erythromelalgia (FE) patients. Eur. J. Pain 11, S130-S293 (2007).
-
(2007)
Eur. J. Pain
, vol.11
, pp. S130-S293
-
-
Uyanik, O.1
Quiles, C.2
Bostock, H.3
Dib-Hajj, S.D.4
Fischer, T.5
Tyrrell, L.6
Waxman, S.G.7
Serra, J.8
-
26
-
-
84964678902
-
Specific changes in conduction velocity recovery cycles of single nociceptors in an erythromelalgia patient with the I848T gain-of-function mutation of Nav1
-
B. Namer, K. Ørstavik, R. Schmidt, I.-P. Kleggetveit, C. Weidner, C. Mørk, M. S. Kvernebo, K. Knut, H. Salter, T. H. Carr, M. Segerdahl, H. Quiding, S. G. Waxman, H. O. Handwerker, H. E. Torebjörk, E. Jørum, M. Schmelz, Specific changes in conduction velocity recovery cycles of single nociceptors in an erythromelalgia patient with the I848T gain-of-function mutation of Nav1. 7. Pain 156, 1637-1646 (2015).
-
(2015)
7. Pain
, vol.156
, pp. 1637-1646
-
-
Namer, B.1
Ørstavik, K.2
Schmidt, R.3
Kleggetveit, I.-P.4
Weidner, C.5
Mørk, C.6
Kvernebo, M.S.7
Knut, K.8
Salter, H.9
Carr, T.H.10
Segerdahl, M.11
Quiding, H.12
Waxman, S.G.13
Handwerker, H.O.14
Torebjörk, H.E.15
Jørum, E.16
Schmelz, M.17
-
27
-
-
26444466085
-
Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1
-
J. J. Michiels, R. H. Te Morsche, J. B. Jansen, J. P. Drenth, Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1. 7. Arch. Neurol. 62, 1587-1590 (2005).
-
(2005)
7. Arch. Neurol.
, vol.62
, pp. 1587-1590
-
-
Michiels, J.J.1
Te Morsche, R.H.2
Jansen, J.B.3
Drenth, J.P.4
|