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Items: 43

1.

A zebrafish model to study small-fiber neuropathy reveals a potential role for GDAP1.

Eijkenboom I, Vanoevelen JM, Hoeijmakers JGJ, Wijnen I, Gerards M, Faber CG, Smeets HJM.

Mitochondrion. 2019 Jan 22. pii: S1567-7249(18)30060-6. doi: 10.1016/j.mito.2019.01.002. [Epub ahead of print]

PMID:
30677530
2.

Lacosamide in patients with Nav1.7 mutations-related small fibre neuropathy: a randomized controlled trial.

de Greef BTA, Hoeijmakers JGJ, Geerts M, Oakes M, Church TJE, Waxman SG, Dib-Hajj SD, Faber CG, Merkies ISJ.

Brain. 2019 Feb 1;142(2):263-275. doi: 10.1093/brain/awy329.

PMID:
30649227
3.

Small-fiber neuropathy: Expanding the clinical pain universe.

Sopacua M, Hoeijmakers JGJ, Merkies ISJ, Lauria G, Waxman SG, Faber CG.

J Peripher Nerv Syst. 2019 Mar;24(1):19-33. doi: 10.1111/jns.12298. Epub 2019 Jan 8. Review.

PMID:
30569495
4.

Yield of peripheral sodium channels gene screening in pure small fibre neuropathy.

Eijkenboom I, Sopacua M, Hoeijmakers JGJ, de Greef BTA, Lindsey P, Almomani R, Marchi M, Vanoevelen J, Smeets HJM, Waxman SG, Lauria G, Merkies ISJ, Faber CG, Gerrits MM.

J Neurol Neurosurg Psychiatry. 2019 Mar;90(3):342-352. doi: 10.1136/jnnp-2018-319042. Epub 2018 Dec 15.

PMID:
30554136
5.

The Pain Dynamics of Small Fiber Neuropathy.

Brouwer BA, van Kuijk SMJ, Bouwhuis A, Faber CG, van Kleef M, Merkies ISJ, Hoeijmakers JGJ.

J Pain. 2019 Jun;20(6):655-663. doi: 10.1016/j.jpain.2018.11.009. Epub 2018 Dec 8.

PMID:
30529697
6.

Expression of pathogenic SCN9A mutations in the zebrafish: A model to study small-fiber neuropathy.

Eijkenboom I, Sopacua M, Otten ABC, Gerrits MM, Hoeijmakers JGJ, Waxman SG, Lombardi R, Lauria G, Merkies ISJ, Smeets HJM, Faber CG, Vanoevelen JM; PROPANE Study Group.

Exp Neurol. 2019 Jan;311:257-264. doi: 10.1016/j.expneurol.2018.10.008. Epub 2018 Oct 11.

7.

A Systematic Review and Meta-Analysis on Outcomes and Complications of Percutaneous Endoscopic Versus Radiologic Gastrostomy for Enteral Feeding.

Strijbos D, Keszthelyi D, Bogie RMM, Gilissen LPL, Lacko M, Hoeijmakers JGJ, van der Leij C, de Ridder R, de Haan MW, Masclee AAM.

J Clin Gastroenterol. 2018 Oct;52(9):753-764. doi: 10.1097/MCG.0000000000001082.

PMID:
29924079
8.

Mystery Case: Superior oblique myokymia: An uncommon cause of intermittent diplopia.

Joosten IBT, Hoeijmakers JGJ.

Neurology. 2018 Feb 27;90(9):e814. doi: 10.1212/WNL.0000000000005028. No abstract available.

PMID:
29483324
9.

Associated conditions in small fiber neuropathy - a large cohort study and review of the literature.

de Greef BTA, Hoeijmakers JGJ, Gorissen-Brouwers CML, Geerts M, Faber CG, Merkies ISJ.

Eur J Neurol. 2018 Feb;25(2):348-355. doi: 10.1111/ene.13508. Epub 2017 Dec 18. Review.

10.

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.

Hellebrekers DMEI, Sallevelt SCEH, Theunissen TEJ, Hendrickx ATM, Gottschalk RW, Hoeijmakers JGJ, Habets DD, Bierau J, Schoonderwoerd KG, Smeets HJM.

Eur J Hum Genet. 2017 Jun;25(7):886-888. doi: 10.1038/ejhg.2017.62. Epub 2017 Apr 26.

11.

A painful neuropathy-associated Nav1.7 mutant leads to time-dependent degeneration of small-diameter axons associated with intracellular Ca2+ dysregulation and decrease in ATP levels.

Rolyan H, Liu S, Hoeijmakers JG, Faber CG, Merkies IS, Lauria G, Black JA, Waxman SG.

Mol Pain. 2016 Nov 7;12. pii: 1744806916674472. Print 2016.

12.

Small Fiber Neuropathy in Children: Two Case Reports Illustrating the Importance of Recognition.

Hoeijmakers JG, Faber CG, Miedema CJ, Merkies IS, Vles JS.

Pediatrics. 2016 Oct;138(4). pii: e20161215.

13.

Intravenous immunoglobulin therapy for small fiber neuropathy: study protocol for a randomized controlled trial.

de Greef BT, Geerts M, Hoeijmakers JG, Faber CG, Merkies IS.

Trials. 2016 Jul 20;17(1):330. doi: 10.1186/s13063-016-1450-x.

14.
15.

Sodium Channels, Mitochondria, and Axonal Degeneration in Peripheral Neuropathy.

Persson AK, Hoeijmakers JGJ, Estacion M, Black JA, Waxman SG.

Trends Mol Med. 2016 May;22(5):377-390. doi: 10.1016/j.molmed.2016.03.008. Epub 2016 Apr 13. Review.

PMID:
27085813
16.

No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy.

de Greef BT, Hoeijmakers JG, Wolters EE, Smeets HJ, van den Wijngaard A, Merkies IS, Faber CG, Gerrits MM.

PLoS One. 2016 Feb 11;11(2):e0148316. doi: 10.1371/journal.pone.0148316. eCollection 2016.

17.

Painful Diabetic Neuropathy Anxiety Rasch-Transformed Questionnaire (PART-Q30(©) ).

Geelen CC, Brouwer BA, Hoeijmakers JG, Faber CG, Merkies IS, Verbunt JA.

J Peripher Nerv Syst. 2016 Jun;21(2):96-104. doi: 10.1111/jns.12162.

PMID:
26840031
18.

Reconstructing the Rasch-Built Myotonic Dystrophy Type 1 Activity and Participation Scale.

Hermans MC, Hoeijmakers JG, Faber CG, Merkies IS.

PLoS One. 2015 Oct 20;10(10):e0139944. doi: 10.1371/journal.pone.0139944. eCollection 2015.

19.

Neuropathic Pain due to Small Fiber Neuropathy in Aging: Current Management and Future Prospects.

Brouwer BA, de Greef BT, Hoeijmakers JG, Geerts M, van Kleef M, Merkies IS, Faber CG.

Drugs Aging. 2015 Aug;32(8):611-21. doi: 10.1007/s40266-015-0283-8. Review.

20.

Impairment measures versus inflammatory RODS in GBS and CIDP: a responsiveness comparison.

Vanhoutte EK, Draak TH, Gorson KC, van Nes SI, Hoeijmakers JG, Van der Pol WL, Notermans NC, Lewis RA, Nobile-Orazio E, Léger JM, Van den Bergh PY, Lauria G, Bril V, Katzberg H, Lunn MP, Pouget J, van der Kooi AJ, Hahn AF, van Doorn PA, Cornblath DR, van den Berg LH, Faber CG, Merkies IS; PeriNomS Study Group.

J Peripher Nerv Syst. 2015 Sep;20(3):289-95. doi: 10.1111/jns.12118.

PMID:
26114893
21.

Improving assessment in small fiber neuropathy.

Brouwer BA, Bakkers M, Hoeijmakers JG, Faber CG, Merkies IS.

J Peripher Nerv Syst. 2015 Sep;20(3):333-40. doi: 10.1111/jns.12128.

PMID:
26114213
22.

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
23.

Painful peripheral neuropathy and sodium channel mutations.

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

Neurosci Lett. 2015 Jun 2;596:51-9. doi: 10.1016/j.neulet.2014.12.056. Epub 2014 Dec 31. Review.

PMID:
25556685
24.

Optimizing temperature threshold testing in small-fiber neuropathy.

Bakkers M, Faber CG, Reulen JP, Hoeijmakers JG, Vanhoutte EK, Merkies IS.

Muscle Nerve. 2015 Jun;51(6):870-6. doi: 10.1002/mus.24473. Epub 2015 Jan 10.

PMID:
25290248
25.

Contact heat evoked potentials: normal values and use in small-fiber neuropathy.

Lagerburg V, Bakkers M, Bouwhuis A, Hoeijmakers JG, Smit AM, Van Den Berg SJ, Hordijk-De Boer I, Brouwer-Van Der Lee MD, Kranendonk D, Reulen JP, Faber CG, Merkies IS.

Muscle Nerve. 2015 May;51(5):743-9. doi: 10.1002/mus.24465. Epub 2015 Mar 31.

PMID:
25256002
26.

Painful neuropathies: the emerging role of sodium channelopathies.

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

J Peripher Nerv Syst. 2014 Jun;19(2):53-65. doi: 10.1111/jns5.12071. Review.

PMID:
25250524
27.

Channelopathies, painful neuropathy, and diabetes: which way does the causal arrow point?

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

Trends Mol Med. 2014 Oct;20(10):544-50. doi: 10.1016/j.molmed.2014.06.003. Epub 2014 Jul 5.

PMID:
25008557
28.

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
29.

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
30.

Incidence and prevalence of small-fiber neuropathy: a survey in the Netherlands.

Peters MJ, Bakkers M, Merkies IS, Hoeijmakers JG, van Raak EP, Faber CG.

Neurology. 2013 Oct 8;81(15):1356-60. doi: 10.1212/WNL.0b013e3182a8236e. Epub 2013 Aug 30.

PMID:
23997150
31.

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.

32.

NaV1.7: stress-induced changes in immunoreactivity within magnocellular neurosecretory neurons of the supraoptic nucleus.

Black JA, Hoeijmakers JG, Faber CG, Merkies IS, Waxman SG.

Mol Pain. 2013 Aug 8;9:39. doi: 10.1186/1744-8069-9-39.

33.

Small fibers, large impact: quality of life in small-fiber neuropathy.

Bakkers M, Faber CG, Hoeijmakers JG, Lauria G, Merkies IS.

Muscle Nerve. 2014 Mar;49(3):329-36. doi: 10.1002/mus.23910. Epub 2013 Jun 28.

PMID:
23716362
34.

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.

35.

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
36.

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
37.

Small-fibre neuropathies--advances in diagnosis, pathophysiology and management.

Hoeijmakers JG, Faber CG, Lauria G, Merkies IS, Waxman SG.

Nat Rev Neurol. 2012 May 29;8(7):369-79. doi: 10.1038/nrneurol.2012.97. Review.

PMID:
22641108
38.

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
39.

[Small fibre neuropathy: knowledge is power].

Hoeijmakers JG, Bakkers M, Blom EW, Drenth JP, Merkies IS, Faber CG.

Ned Tijdschr Geneeskd. 2012;156(7):A4224. Review. Dutch.

PMID:
22333400
40.

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
41.

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.

42.

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
43.

Co-morbidity and visual acuity are risk factors for health-related quality of life decline: five-month follow-up EQ-5D data of visually impaired older patients.

van Nispen RM, de Boer MR, Hoeijmakers JG, Ringens PJ, van Rens GH.

Health Qual Life Outcomes. 2009 Feb 25;7:18. doi: 10.1186/1477-7525-7-18.

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