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Items: 1 to 20 of 224

1.

Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.

Han C, Dib-Hajj SD, Lin Z, Li Y, Eastman EM, Tyrrell L, Cao X, Yang Y, Waxman SG.

Brain. 2009 Jul;132(Pt 7):1711-22. doi: 10.1093/brain/awp078. Epub 2009 Apr 15.

2.

NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders.

Estacion M, Dib-Hajj SD, Benke PJ, Te Morsche RH, Eastman EM, Macala LJ, Drenth JP, Waxman SG.

J Neurosci. 2008 Oct 22;28(43):11079-88. doi: 10.1523/JNEUROSCI.3443-08.2008.

3.
4.

Deletion mutation of sodium channel Na(V)1.7 in inherited erythromelalgia: enhanced slow inactivation modulates dorsal root ganglion neuron hyperexcitability.

Cheng X, Dib-Hajj SD, Tyrrell L, Te Morsche RH, Drenth JP, Waxman SG.

Brain. 2011 Jul;134(Pt 7):1972-86. doi: 10.1093/brain/awr143.

5.

Na(V)1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons.

Harty TP, Dib-Hajj SD, Tyrrell L, Blackman R, Hisama FM, Rose JB, Waxman SG.

J Neurosci. 2006 Nov 29;26(48):12566-75.

6.

Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia.

Choi JS, Cheng X, Foster E, Leffler A, Tyrrell L, Te Morsche RH, Eastman EM, Jansen HJ, Huehne K, Nau C, Dib-Hajj SD, Drenth JP, Waxman SG.

Brain. 2010 Jun;133(Pt 6):1823-35. doi: 10.1093/brain/awq114. Epub 2010 May 16.

7.

Mutations at opposite ends of the DIII/S4-S5 linker of sodium channel Na V 1.7 produce distinct pain disorders.

Cheng X, Dib-Hajj SD, Tyrrell L, Wright DA, Fischer TZ, Waxman SG.

Mol Pain. 2010 Apr 29;6:24. doi: 10.1186/1744-8069-6-24.

8.

Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.

Dib-Hajj SD, Rush AM, Cummins TR, Hisama FM, Novella S, Tyrrell L, Marshall L, Waxman SG.

Brain. 2005 Aug;128(Pt 8):1847-54. Epub 2005 Jun 15.

9.

Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating.

Lampert A, Dib-Hajj SD, Tyrrell L, Waxman SG.

J Biol Chem. 2006 Nov 24;281(47):36029-35. Epub 2006 Sep 28.

10.

Mexiletine-responsive erythromelalgia due to a new Na(v)1.7 mutation showing use-dependent current fall-off.

Choi JS, Zhang L, Dib-Hajj SD, Han C, Tyrrell L, Lin Z, Wang X, Yang Y, Waxman SG.

Exp Neurol. 2009 Apr;216(2):383-9. doi: 10.1016/j.expneurol.2008.12.012. Epub 2008 Dec 31.

PMID:
19162012
11.

Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy.

Choi JS, Dib-Hajj SD, Waxman SG.

Neurology. 2006 Nov 14;67(9):1563-7. Epub 2006 Sep 20.

PMID:
16988069
12.

Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.

Cummins TR, Dib-Hajj SD, Waxman SG.

J Neurosci. 2004 Sep 22;24(38):8232-6.

13.

Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.

Han C, Rush AM, Dib-Hajj SD, Li S, Xu Z, Wang Y, Tyrrell L, Wang X, Yang Y, Waxman SG.

Ann Neurol. 2006 Mar;59(3):553-8.

PMID:
16392115
14.

Erythromelalgia mutation L823R shifts activation and inactivation of threshold sodium channel Nav1.7 to hyperpolarized potentials.

Lampert A, Dib-Hajj SD, Eastman EM, Tyrrell L, Lin Z, Yang Y, Waxman SG.

Biochem Biophys Res Commun. 2009 Dec 11;390(2):319-24. doi: 10.1016/j.bbrc.2009.09.121. Epub 2009 Oct 1.

PMID:
19800314
15.

Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli.

Yang Y, Huang J, Mis MA, Estacion M, Macala L, Shah P, Schulman BR, Horton DB, Dib-Hajj SD, Waxman SG.

J Neurosci. 2016 Jul 13;36(28):7511-22. doi: 10.1523/JNEUROSCI.0462-16.2016.

PMID:
27413160
16.

Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation.

Eberhardt M, Nakajima J, Klinger AB, Neacsu C, Hühne K, O'Reilly AO, Kist AM, Lampe AK, Fischer K, Gibson J, Nau C, Winterpacht A, Lampert A.

J Biol Chem. 2014 Jan 24;289(4):1971-80. doi: 10.1074/jbc.M113.502211. Epub 2013 Dec 5.

17.

Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7.

Estacion M, Han C, Choi JS, Hoeijmakers JG, Lauria G, Drenth JP, Gerrits MM, Dib-Hajj SD, Faber CG, Merkies IS, Waxman SG.

Mol Pain. 2011 Dec 2;7:92. doi: 10.1186/1744-8069-7-92.

18.

Erythromelalgia: a hereditary pain syndrome enters the molecular era.

Waxman SG, Dib-Hajj SD.

Ann Neurol. 2005 Jun;57(6):785-8.

PMID:
15929046
19.

A novel SCN9A mutation responsible for primary erythromelalgia and is resistant to the treatment of sodium channel blockers.

Wu MT, Huang PY, Yen CT, Chen CC, Lee MJ.

PLoS One. 2013;8(1):e55212. doi: 10.1371/journal.pone.0055212. Epub 2013 Jan 31.

20.

Dynamic-clamp analysis of wild-type human Nav1.7 and erythromelalgia mutant channel L858H.

Vasylyev DV, Han C, Zhao P, Dib-Hajj S, Waxman SG.

J Neurophysiol. 2014 Apr;111(7):1429-43. doi: 10.1152/jn.00763.2013. Epub 2014 Jan 8.

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