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Items: 1 to 50 of 170

1.

Resilience to Pain: A Peripheral Component Identified using induced Pluripotent Stem Cells and Dynamic Clamp.

Mis MA, Yang Y, Tanaka BS, Gomis-Perez C, Liu S, Dib-Hajj F, Adi T, Garcia-Milian R, Schulman BR, Dib-Hajj SD, Waxman SG.

J Neurosci. 2018 Nov 20. pii: 2433-18. doi: 10.1523/JNEUROSCI.2433-18.2018. [Epub ahead of print]

PMID:
30459225
2.

Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series.

Arthur L, Keen K, Verriotis M, Peters J, Kelly A, Howard RF, Dib-Hajj SD, Waxman SG, Walker SM.

J Pediatr. 2018 Nov 9. pii: S0022-3476(18)31464-1. doi: 10.1016/j.jpeds.2018.10.024. [Epub ahead of print]

PMID:
30416015
3.

A novel gain-of-function Nav1.7 mutation in a carbamazepine-responsive patient with adult-onset painful peripheral neuropathy.

Adi T, Estacion M, Schulman BR, Vernino S, Dib-Hajj SD, Waxman SG.

Mol Pain. 2018 Jan-Dec;14:1744806918815007. doi: 10.1177/1744806918815007. Epub 2018 Nov 5.

PMID:
30392441
4.

Somatosensory Neurons Enter a State of Altered Excitability during Hibernation.

Hoffstaetter LJ, Mastrotto M, Merriman DK, Dib-Hajj SD, Waxman SG, Bagriantsev SN, Gracheva EO.

Curr Biol. 2018 Sep 24;28(18):2998-3004.e3. doi: 10.1016/j.cub.2018.07.020. Epub 2018 Aug 30.

5.

The Novel Activity of Carbamazepine as an Activation Modulator Extends from NaV1.7 Mutations to the NaV1.8-S242T Mutant Channel from a Patient with Painful Diabetic Neuropathy.

Han C, Themistocleous AC, Estacion M, Dib-Hajj FB, Blesneac I, Macala L, Fratter C, Bennett DL, Waxman SG, Dib-Hajj SD.

Mol Pharmacol. 2018 Nov;94(5):1256-1269. doi: 10.1124/mol.118.113076. Epub 2018 Aug 22.

PMID:
30135145
6.

Multiple myosin motors interact with sodium/potassium-ATPase alpha 1 subunits.

Dash B, Dib-Hajj SD, Waxman SG.

Mol Brain. 2018 Aug 7;11(1):45. doi: 10.1186/s13041-018-0388-1.

7.

Loss-of-function mutations of SCN10A encoding NaV1.8 α subunit of voltage-gated sodium channel in patients with human kidney stone disease.

Nettuwakul C, Praditsap O, Sawasdee N, Rungroj N, Ruamyod K, Watanapa WB, Junking M, Sangnual S, Sritippayawan S, Cheunsuchon B, Chuawattana D, Rojsatapong S, Chaowagul W, Dib-Hajj SD, Waxman SG, Yenchitsomanus PT.

Sci Rep. 2018 Jul 11;8(1):10453. doi: 10.1038/s41598-018-28623-3.

8.

Nonmuscle myosin II isoforms interact with sodium channel alpha subunits.

Dash B, Han C, Waxman SG, Dib-Hajj SD.

Mol Pain. 2018 Jan-Dec;14:1744806918788638. doi: 10.1177/1744806918788638. Epub 2018 Jun 29.

9.

Nav1.7 is phosphorylated by Fyn tyrosine kinase which modulates channel expression and gating in a cell type-dependent manner.

Li Y, Zhu T, Yang H, Dib-Hajj SD, Waxman SG, Yu Y, Xu TL, Cheng X.

Mol Pain. 2018 Jan-Dec;14:1744806918782229. doi: 10.1177/1744806918782229. Epub 2018 May 23.

10.

Conditional knockout of NaV1.6 in adult mice ameliorates neuropathic pain.

Chen L, Huang J, Zhao P, Persson AK, Dib-Hajj FB, Cheng X, Tan A, Waxman SG, Dib-Hajj SD.

Sci Rep. 2018 Mar 1;8(1):3845. doi: 10.1038/s41598-018-22216-w.

11.

Atypical changes in DRG neuron excitability and complex pain phenotype associated with a Nav1.7 mutation that massively hyperpolarizes activation.

Huang J, Mis MA, Tanaka B, Adi T, Estacion M, Liu S, Walker S, Dib-Hajj SD, Waxman SG.

Sci Rep. 2018 Jan 29;8(1):1811. doi: 10.1038/s41598-018-20221-7.

12.

NaV1.7 as a Pharmacogenomic Target for Pain: Moving Toward Precision Medicine.

Yang Y, Mis MA, Estacion M, Dib-Hajj SD, Waxman SG.

Trends Pharmacol Sci. 2018 Mar;39(3):258-275. doi: 10.1016/j.tips.2017.11.010. Epub 2018 Jan 20. Review.

PMID:
29370938
13.

Reverse pharmacogenomics: carbamazepine normalizes activation and attenuates thermal hyperexcitability of sensory neurons due to Nav 1.7 mutation I234T.

Yang Y, Adi T, Effraim PR, Chen L, Dib-Hajj SD, Waxman SG.

Br J Pharmacol. 2018 Jun;175(12):2261-2271. doi: 10.1111/bph.13935. Epub 2017 Jul 30.

PMID:
28658526
14.

Corrigendum: Pharmacological characterisation of the highly NaV1.7 selective spider venom peptide Pn3a.

Deuis JR, Dekan Z, Wingerd JS, Smith JJ, Munasinghe NR, Bhola RF, Imlach WL, Herzig V, Armstrong DA, Rosengren KJ, Bosmans F, Waxman SG, Dib-Hajj SD, Escoubas P, Minett MS, Christie MJ, King GF, Alewood PF, Lewis RJ, Wood JN, Vetter I.

Sci Rep. 2017 May 26;7:46816. doi: 10.1038/srep46816. No abstract available.

15.

Sodium channel NaV1.9 mutations associated with insensitivity to pain dampen neuronal excitability.

Huang J, Vanoye CG, Cutts A, Goldberg YP, Dib-Hajj SD, Cohen CJ, Waxman SG, George AL Jr.

J Clin Invest. 2017 Jun 30;127(7):2805-2814. doi: 10.1172/JCI92373. Epub 2017 May 22.

16.

Gain-of-function mutation of a voltage-gated sodium channel NaV1.7 associated with peripheral pain and impaired limb development.

Tanaka BS, Nguyen PT, Zhou EY, Yang Y, Yarov-Yarovoy V, Dib-Hajj SD, Waxman SG.

J Biol Chem. 2017 Jun 2;292(22):9262-9272. doi: 10.1074/jbc.M117.778779. Epub 2017 Apr 5.

17.

Sodium channels in pain disorders: pathophysiology and prospects for treatment.

Dib-Hajj SD, Geha P, Waxman SG.

Pain. 2017 Apr;158 Suppl 1:S97-S107. doi: 10.1097/j.pain.0000000000000854. Review. No abstract available.

18.

Network topology of NaV1.7 mutations in sodium channel-related painful disorders.

Kapetis D, Sassone J, Yang Y, Galbardi B, Xenakis MN, Westra RL, Szklarczyk R, Lindsey P, Faber CG, Gerrits M, Merkies IS, Dib-Hajj SD, Mantegazza M, Waxman SG, Lauria G; PROPANE Study Group.

BMC Syst Biol. 2017 Feb 24;11(1):28. doi: 10.1186/s12918-016-0382-0.

19.

The AMPK Activator A769662 Blocks Voltage-Gated Sodium Channels: Discovery of a Novel Pharmacophore with Potential Utility for Analgesic Development.

Asiedu MN, Han C, Dib-Hajj SD, Waxman SG, Price TJ, Dussor G.

PLoS One. 2017 Jan 24;12(1):e0169882. doi: 10.1371/journal.pone.0169882. eCollection 2017.

20.

Pharmacological characterisation of the highly NaV1.7 selective spider venom peptide Pn3a.

Deuis JR, Dekan Z, Wingerd JS, Smith JJ, Munasinghe NR, Bhola RF, Imlach WL, Herzig V, Armstrong DA, Rosengren KJ, Bosmans F, Waxman SG, Dib-Hajj SD, Escoubas P, Minett MS, Christie MJ, King GF, Alewood PF, Lewis RJ, Wood JN, Vetter I.

Sci Rep. 2017 Jan 20;7:40883. doi: 10.1038/srep40883. Erratum in: Sci Rep. 2017 May 26;7:46816.

21.

COL6A5 variants in familial neuropathic chronic itch.

Martinelli-Boneschi F, Colombi M, Castori M, Devigili G, Eleopra R, Malik RA, Ritelli M, Zoppi N, Dordoni C, Sorosina M, Grammatico P, Fadavi H, Gerrits MM, Almomani R, Faber CG, Merkies IS, Toniolo D; INGI Network, Cocca M, Doglioni C, Waxman SG, Dib-Hajj SD, Taiana MM, Sassone J, Lombardi R, Cazzato D, Zauli A, Santoro S, Marchi M, Lauria G.

Brain. 2017 Mar 1;140(3):555-567. doi: 10.1093/brain/aww343.

PMID:
28073787
22.

A SCN10A SNP biases human pain sensitivity.

Duan G, Han C, Wang Q, Guo S, Zhang Y, Ying Y, Huang P, Zhang L, Macala L, Shah P, Zhang M, Li N, Dib-Hajj SD, Waxman SG, Zhang X.

Mol Pain. 2016 Sep 2;12. pii: 1744806916666083. doi: 10.1177/1744806916666083. Print 2016.

23.

Familial gain-of-function Nav1.9 mutation in a painful channelopathy.

Han C, Yang Y, Te Morsche RH, Drenth JP, Politei JM, Waxman SG, Dib-Hajj SD.

J Neurol Neurosurg Psychiatry. 2017 Mar;88(3):233-240. doi: 10.1136/jnnp-2016-313804. Epub 2016 Aug 8.

PMID:
27503742
24.

A gain-of-function mutation in Nav1.6 in a case of trigeminal neuralgia.

Tanaka BS, Zhao P, Dib-Hajj FB, Morisset V, Tate S, Waxman SG, Dib-Hajj SD.

Mol Med. 2016 Sep;22:338-348. doi: 10.2119/molmed.2016.00131. Epub 2016 Aug 3.

25.

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.

26.

iFGF14-Navs: A monogamous partnership?

Dib-Hajj SD.

Channels (Austin). 2016 Nov;10(6):435-6. doi: 10.1080/19336950.2016.1204829. Epub 2016 Jun 28. No abstract available.

27.

Pharmacotherapy for Pain in a Family With Inherited Erythromelalgia Guided by Genomic Analysis and Functional Profiling.

Geha P, Yang Y, Estacion M, Schulman BR, Tokuno H, Apkarian AV, Dib-Hajj SD, Waxman SG.

JAMA Neurol. 2016 Jun 1;73(6):659-67. doi: 10.1001/jamaneurol.2016.0389.

PMID:
27088781
28.

Subtype-Selective Small Molecule Inhibitors Reveal a Fundamental Role for Nav1.7 in Nociceptor Electrogenesis, Axonal Conduction and Presynaptic Release.

Alexandrou AJ, Brown AR, Chapman ML, Estacion M, Turner J, Mis MA, Wilbrey A, Payne EC, Gutteridge A, Cox PJ, Doyle R, Printzenhoff D, Lin Z, Marron BE, West C, Swain NA, Storer RI, Stupple PA, Castle NA, Hounshell JA, Rivara M, Randall A, Dib-Hajj SD, Krafte D, Waxman SG, Patel MK, Butt RP, Stevens EB.

PLoS One. 2016 Apr 6;11(4):e0152405. doi: 10.1371/journal.pone.0152405. eCollection 2016.

29.

Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile.

McDonnell A, Schulman B, Ali Z, Dib-Hajj SD, Brock F, Cobain S, Mainka T, Vollert J, Tarabar S, Waxman SG.

Brain. 2016 Apr;139(Pt 4):1052-65. doi: 10.1093/brain/aww007. Epub 2016 Feb 26.

PMID:
26920677
30.

Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder.

Jones JM, Dionne L, Dell'Orco J, Parent R, Krueger JN, Cheng X, Dib-Hajj SD, Bunton-Stasyshyn RK, Sharkey LM, Dowling JJ, Murphy GG, Shakkottai VG, Shrager P, Meisler MH.

Neurobiol Dis. 2016 May;89:36-45. doi: 10.1016/j.nbd.2016.01.018. Epub 2016 Jan 22.

31.

Diversity of composition and function of sodium channels in peripheral sensory neurons.

Dib-Hajj SD, Waxman SG.

Pain. 2015 Dec;156(12):2406-7. doi: 10.1097/j.pain.0000000000000353. No abstract available.

PMID:
26580678
32.

Correction: Contactin-1 and Neurofascin-155/-186 Are Not Targets of Auto-Antibodies in Multifocal Motor Neuropathy.

Doppler K, Appeltshauser L, Krämer HH, Ng JK, Meinl E, Villmann C, Brophy P, Dib-Hajj SD, Waxman SG, Weishaupt A, Sommer C.

PLoS One. 2015 Aug 28;10(8):e0137443. doi: 10.1371/journal.pone.0137443. eCollection 2015. No abstract available.

33.

NaV1.9: a sodium channel linked to human pain.

Dib-Hajj SD, Black JA, Waxman SG.

Nat Rev Neurosci. 2015 Sep;16(9):511-9. doi: 10.1038/nrn3977. Epub 2015 Aug 5. Review.

PMID:
26243570
34.

Contactin-1 and Neurofascin-155/-186 Are Not Targets of Auto-Antibodies in Multifocal Motor Neuropathy.

Doppler K, Appeltshauser L, Krämer HH, Ng JK, Meinl E, Villmann C, Brophy P, Dib-Hajj SD, Waxman SG, Weishaupt A, Sommer C.

PLoS One. 2015 Jul 28;10(7):e0134274. doi: 10.1371/journal.pone.0134274. eCollection 2015. Erratum in: PLoS One. 2015;10(8):e0137443.

35.

Virus-Mediated Knockdown of Nav1.3 in Dorsal Root Ganglia of STZ-Induced Diabetic Rats Alleviates Tactile Allodynia.

Tan AM, Samad OA, Dib-Hajj SD, Waxman SG.

Mol Med. 2015 Jun 18;21:544-52. doi: 10.2119/molmed.2015.00063.

36.

Preferential targeting of Nav1.6 voltage-gated Na+ Channels to the axon initial segment during development.

Akin EJ, Solé L, Dib-Hajj SD, Waxman SG, Tamkun MM.

PLoS One. 2015 Apr 15;10(4):e0124397. doi: 10.1371/journal.pone.0124397. eCollection 2015.

37.

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;17(2):158-69. doi: 10.1007/s12017-015-8347-9. Epub 2015 Mar 20.

PMID:
25791876
38.

Human Na(v)1.8: enhanced persistent and ramp currents contribute to distinct firing properties of human DRG neurons.

Han C, Estacion M, Huang J, Vasylyev D, Zhao P, Dib-Hajj SD, Waxman SG.

J Neurophysiol. 2015 May 1;113(9):3172-85. doi: 10.1152/jn.00113.2015. Epub 2015 Mar 18.

39.

Oral administration of PF-01247324, a subtype-selective Nav1.8 blocker, reverses cerebellar deficits in a mouse model of multiple sclerosis.

Shields SD, Butt RP, Dib-Hajj SD, Waxman SG.

PLoS One. 2015 Mar 6;10(3):e0119067. doi: 10.1371/journal.pone.0119067. eCollection 2015.

40.

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.

Blanchard MG, Willemsen MH, Walker JB, Dib-Hajj SD, Waxman SG, Jongmans MC, Kleefstra T, van de Warrenburg BP, Praamstra P, Nicolai J, Yntema HG, Bindels RJ, Meisler MH, Kamsteeg EJ.

J Med Genet. 2015 May;52(5):330-7. doi: 10.1136/jmedgenet-2014-102813. Epub 2015 Feb 27.

41.

Destruction of paranodal architecture in inflammatory neuropathy with anti-contactin-1 autoantibodies.

Doppler K, Appeltshauser L, Wilhelmi K, Villmann C, Dib-Hajj SD, Waxman SG, Mäurer M, Weishaupt A, Sommer C.

J Neurol Neurosurg Psychiatry. 2015 Jul;86(7):720-8. doi: 10.1136/jnnp-2014-309916. Epub 2015 Feb 18.

PMID:
25694474
42.

Sodium channel genes in pain-related disorders: phenotype-genotype associations and recommendations for clinical use.

Waxman SG, Merkies ISJ, Gerrits MM, Dib-Hajj SD, Lauria G, Cox JJ, Wood JN, Woods CG, Drenth JPH, Faber CG.

Lancet Neurol. 2014 Nov;13(11):1152-1160. doi: 10.1016/S1474-4422(14)70150-4. Review.

PMID:
25316021
43.

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.

de Kovel CG, Meisler MH, Brilstra EH, van Berkestijn FM, van 't Slot R, van Lieshout S, Nijman IJ, O'Brien JE, Hammer MF, Estacion M, Waxman SG, Dib-Hajj SD, Koeleman BP.

Epilepsy Res. 2014 Nov;108(9):1511-8. doi: 10.1016/j.eplepsyres.2014.08.020. Epub 2014 Sep 4.

44.

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.

45.

Translational pain research: Lessons from genetics and genomics.

Dib-Hajj SD, Waxman SG.

Sci Transl Med. 2014 Aug 13;6(249):249sr4. doi: 10.1126/scitranslmed.3007017. Review.

PMID:
25122641
46.

Neuropathic pain in two-generation twins carrying the sodium channel Nav1.7 functional variant R1150W.

Harrer JU, Uçeyler N, Doppler K, Fischer TZ, Dib-Hajj SD, Waxman SG, Sommer C.

Pain. 2014 Oct;155(10):2199-203. doi: 10.1016/j.pain.2014.08.003. Epub 2014 Aug 10.

PMID:
25116815
47.

Human pain in a dish: Native DRG neurons and differentiated pluripotent stem cells.

Dib-Hajj SD.

Pain. 2014 Sep;155(9):1681-2. doi: 10.1016/j.pain.2014.07.010. Epub 2014 Jul 15. No abstract available.

PMID:
25047782
48.

A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.

Estacion M, O'Brien JE, Conravey A, Hammer MF, Waxman SG, Dib-Hajj SD, Meisler MH.

Neurobiol Dis. 2014 Sep;69:117-23. doi: 10.1016/j.nbd.2014.05.017. Epub 2014 May 27.

49.

Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy.

Huang J, Han C, Estacion M, Vasylyev D, Hoeijmakers JG, Gerrits MM, Tyrrell L, Lauria G, Faber CG, Dib-Hajj SD, Merkies IS, Waxman SG; PROPANE Study Group.

Brain. 2014 Jun;137(Pt 6):1627-42. doi: 10.1093/brain/awu079. Epub 2014 Apr 27.

PMID:
24776970
50.

Physiological and genetic analysis of multiple sodium channel variants in a model of genetic absence epilepsy.

Oliva MK, McGarr TC, Beyer BJ, Gazina E, Kaplan DI, Cordeiro L, Thomas E, Dib-Hajj SD, Waxman SG, Frankel WN, Petrou S.

Neurobiol Dis. 2014 Jul;67:180-90. doi: 10.1016/j.nbd.2014.03.007. Epub 2014 Mar 19.

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