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Results: 1 to 20 of 116

1.

Nav1.7-related small fiber neuropathy: impaired slow-inactivation and DRG neuron hyperexcitability.

Han C, Hoeijmakers JG, Ahn HS, Zhao P, Shah P, Lauria G, Gerrits MM, te Morsche RH, Dib-Hajj SD, Drenth JP, Faber CG, Merkies IS, Waxman SG.

Neurology. 2012 May 22;78(21):1635-43. doi: 10.1212/WNL.0b013e3182574f12. Epub 2012 Apr 25.

PMID:
22539570
[PubMed - indexed for MEDLINE]
2.

The G1662S NaV1.8 mutation in small fibre neuropathy: impaired inactivation underlying DRG neuron hyperexcitability.

Han C, Vasylyev D, Macala LJ, Gerrits MM, Hoeijmakers JG, Bekelaar KJ, Dib-Hajj SD, Faber CG, Merkies IS, Waxman SG.

J Neurol Neurosurg Psychiatry. 2014 May;85(5):499-505. doi: 10.1136/jnnp-2013-306095. Epub 2013 Sep 4.

PMID:
24006052
[PubMed - indexed for MEDLINE]
3.

Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy.

Han C, Hoeijmakers JG, Liu S, Gerrits MM, te Morsche RH, Lauria G, Dib-Hajj SD, Drenth JP, Faber CG, Merkies IS, Waxman SG.

Brain. 2012 Sep;135(Pt 9):2613-28. doi: 10.1093/brain/aws187. Epub 2012 Jul 22.

PMID:
22826602
[PubMed - indexed for MEDLINE]
Free Article
4.

Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy.

Faber CG, Hoeijmakers JG, Ahn HS, Cheng X, Han C, Choi JS, Estacion M, Lauria G, Vanhoutte EK, Gerrits MM, Dib-Hajj S, Drenth JP, Waxman SG, Merkies IS.

Ann Neurol. 2012 Jan;71(1):26-39. doi: 10.1002/ana.22485. Epub 2011 Jun 22.

PMID:
21698661
[PubMed - indexed for MEDLINE]
5.

Small-fiber neuropathy Nav1.8 mutation shifts activation to hyperpolarized potentials and increases excitability of dorsal root ganglion neurons.

Huang J, Yang Y, Zhao P, Gerrits MM, Hoeijmakers JG, Bekelaar K, Merkies IS, Faber CG, Dib-Hajj SD, Waxman SG.

J Neurosci. 2013 Aug 28;33(35):14087-97. doi: 10.1523/JNEUROSCI.2710-13.2013.

PMID:
23986244
[PubMed - indexed for MEDLINE]
Free Article
6.

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.

PMID:
22136189
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Genetic aspects of sodium channelopathy in small fiber neuropathy.

Hoeijmakers JG, Merkies IS, Gerrits MM, Waxman SG, Faber CG.

Clin Genet. 2012 Oct;82(4):351-8. doi: 10.1111/j.1399-0004.2012.01937.x. Epub 2012 Aug 7. Review.

PMID:
22803682
[PubMed - indexed for MEDLINE]
8.

Differential effect of D623N variant and wild-type Na(v)1.7 sodium channels on resting potential and interspike membrane potential of dorsal root ganglion neurons.

Ahn HS, Vasylyev DV, Estacion M, Macala LJ, Shah P, Faber CG, Merkies IS, Dib-Hajj SD, Waxman SG.

Brain Res. 2013 Sep 5;1529:165-77. doi: 10.1016/j.brainres.2013.07.005. Epub 2013 Jul 11.

PMID:
23850641
[PubMed - indexed for MEDLINE]
9.

Neuropathy-associated Nav1.7 variant I228M impairs integrity of dorsal root ganglion neuron axons.

Persson AK, Liu S, Faber CG, Merkies IS, Black JA, Waxman SG.

Ann Neurol. 2013 Jan;73(1):140-5. doi: 10.1002/ana.23725. Epub 2012 Dec 31.

PMID:
23280954
[PubMed - indexed for MEDLINE]
10.

Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation.

Hoeijmakers JG, Han C, Merkies IS, Macala LJ, Lauria G, Gerrits MM, Dib-Hajj SD, Faber CG, Waxman SG.

Brain. 2012 Feb;135(Pt 2):345-58. doi: 10.1093/brain/awr349. Epub 2012 Jan 26.

PMID:
22286749
[PubMed - indexed for MEDLINE]
Free Article
11.

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.

PMID:
17135418
[PubMed - indexed for MEDLINE]
Free Article
12.

Differential slow inactivation and use-dependent inhibition of Nav1.8 channels contribute to distinct firing properties in IB4+ and IB4- DRG neurons.

Choi JS, Dib-Hajj SD, Waxman SG.

J Neurophysiol. 2007 Feb;97(2):1258-65. Epub 2006 Nov 15.

PMID:
17108087
[PubMed - indexed for MEDLINE]
Free Article
13.

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.

PMID:
21705421
[PubMed - indexed for MEDLINE]
Free Article
14.

Depolarized inactivation overcomes impaired activation to produce DRG neuron hyperexcitability in a Nav1.7 mutation in a patient with distal limb pain.

Huang J, Yang Y, Dib-Hajj SD, van Es M, Zhao P, Salomon J, Drenth JP, Waxman SG.

J Neurosci. 2014 Sep 10;34(37):12328-40. doi: 10.1523/JNEUROSCI.2773-14.2014.

PMID:
25209274
[PubMed - indexed for MEDLINE]
15.

Gain-of-function Nav1.8 mutations in painful neuropathy.

Faber CG, Lauria G, Merkies IS, Cheng X, Han C, Ahn HS, Persson AK, Hoeijmakers JG, Gerrits MM, Pierro T, Lombardi R, Kapetis D, Dib-Hajj SD, Waxman SG.

Proc Natl Acad Sci U S A. 2012 Nov 20;109(47):19444-9. doi: 10.1073/pnas.1216080109. Epub 2012 Oct 31.

PMID:
23115331
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable.

Dib-Hajj SD, Estacion M, Jarecki BW, Tyrrell L, Fischer TZ, Lawden M, Cummins TR, Waxman SG.

Mol Pain. 2008 Sep 19;4:37. doi: 10.1186/1744-8069-4-37.

PMID:
18803825
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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.

PMID:
15385606
[PubMed - indexed for MEDLINE]
Free Article
18.

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.

PMID:
18945915
[PubMed - indexed for MEDLINE]
Free Article
19.

Glycosylation alters steady-state inactivation of sodium channel Nav1.9/NaN in dorsal root ganglion neurons and is developmentally regulated.

Tyrrell L, Renganathan M, Dib-Hajj SD, Waxman SG.

J Neurosci. 2001 Dec 15;21(24):9629-37.

PMID:
11739573
[PubMed - indexed for MEDLINE]
Free Article
20.

Multiple types of Na(+) currents mediate action potential electrogenesis in small neurons of mouse dorsal root ganglia.

Matsutomi T, Nakamoto C, Zheng T, Kakimura J, Ogata N.

Pflugers Arch. 2006 Oct;453(1):83-96. Epub 2006 Jul 13.

PMID:
16838161
[PubMed - indexed for MEDLINE]
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