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Journal Abstract Search

264 related items for PubMed ID: 22136189

  • 1. 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 02; 7():92. PubMed ID: 22136189
    [Abstract] [Full Text] [Related]

  • 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. PubMed ID: 18945915
    [Abstract] [Full Text] [Related]

  • 3. 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. PubMed ID: 20429905
    [Abstract] [Full Text] [Related]

  • 4. 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. PubMed ID: 24311784
    [Abstract] [Full Text] [Related]

  • 5. 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. PubMed ID: 27413160
    [Abstract] [Full Text] [Related]

  • 6. The small fiber neuropathy NaV1.7 I228M mutation: impaired neurite integrity via bioenergetic and mitotoxic mechanisms, and protection by dexpramipexole.
    Lee SI, Hoeijmakers JGJ, Faber CG, Merkies ISJ, Lauria G, Waxman SG.
    J Neurophysiol; 2020 Feb 01; 123(2):645-657. PubMed ID: 31851560
    [Abstract] [Full Text] [Related]

  • 7. Two independent mouse lines carrying the Nav1.7 I228M gain-of-function variant display dorsal root ganglion neuron hyperexcitability but a minimal pain phenotype.
    Chen L, Wimalasena NK, Shim J, Han C, Lee SI, Gonzalez-Cano R, Estacion M, Faber CG, Lauria G, Dib-Hajj SD, Woolf CJ, Waxman SG.
    Pain; 2021 Jun 01; 162(6):1758-1770. PubMed ID: 33323889
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 85(5):499-505. PubMed ID: 24006052
    [Abstract] [Full Text] [Related]

  • 9. 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. PubMed ID: 23986244
    [Abstract] [Full Text] [Related]

  • 10. 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. PubMed ID: 17135418
    [Abstract] [Full Text] [Related]

  • 11. Ih current stabilizes excitability in rodent DRG neurons and reverses hyperexcitability in a nociceptive neuron model of inherited neuropathic pain.
    Vasylyev DV, Liu S, Waxman SG.
    J Physiol; 2023 Dec 29; 601(23):5341-5366. PubMed ID: 37846879
    [Abstract] [Full Text] [Related]

  • 12. 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 05; 1529():165-77. PubMed ID: 23850641
    [Abstract] [Full Text] [Related]

  • 13. 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. PubMed ID: 22539570
    [Abstract] [Full Text] [Related]

  • 14. Nav1.7 gain-of-function mutation I228M triggers age-dependent nociceptive insensitivity and C-LTMR dysregulation.
    Wimalasena NK, Taub DG, Shim J, Hakim S, Kawaguchi R, Chen L, El-Rifai M, Geschwind DH, Dib-Hajj SD, Waxman SG, Woolf CJ.
    Exp Neurol; 2023 Jun 22; 364():114393. PubMed ID: 37003485
    [Abstract] [Full Text] [Related]

  • 15. 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. PubMed ID: 18803825
    [Abstract] [Full Text] [Related]

  • 16. 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 19; 111(7):1429-43. PubMed ID: 24401712
    [Abstract] [Full Text] [Related]

  • 17. Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation.
    Jarecki BW, Sheets PL, Jackson JO, Cummins TR.
    J Physiol; 2008 Sep 01; 586(17):4137-53. PubMed ID: 18599537
    [Abstract] [Full Text] [Related]

  • 18. 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. PubMed ID: 15385606
    [Abstract] [Full Text] [Related]

  • 19. Increased Resurgent Sodium Currents in Nav1.8 Contribute to Nociceptive Sensory Neuron Hyperexcitability Associated with Peripheral Neuropathies.
    Xiao Y, Barbosa C, Pei Z, Xie W, Strong JA, Zhang JM, Cummins TR.
    J Neurosci; 2019 Feb 20; 39(8):1539-1550. PubMed ID: 30617209
    [Abstract] [Full Text] [Related]

  • 20. The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy.
    Han C, Yang Y, de Greef BT, Hoeijmakers JG, Gerrits MM, Verhamme C, Qu J, Lauria G, Merkies IS, Faber CG, Dib-Hajj SD, Waxman SG.
    Neuromolecular Med; 2015 Jun 20; 17(2):158-69. PubMed ID: 25791876
    [Abstract] [Full Text] [Related]

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