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2019

A gain-of-function sodium channel beta 2-subunit mutation in painful diabetic neuropathy

Alsaloum, M., Estacion, M., Almomani, R., Gerrits, M. M., Boenhof, G. J., Ziegler, D., Malik, R., Ferdousi, M., Lauria, G., Merkies, I. S. J., Faber, C. G., Dib-Hajj, S., Waxman, S. G., de Greef, B., Hoeijmakers, J. G. J., Sopacua, M., Smeets, H. J. M., Vanoevelen, J. M., Eijkenboom, Lindsey, P. & 21 others, Almomani, R., Taiana, M., Marchi, M., Lombardi, R., Cazzato, D., Boneschi, F. M., Zauli, A., Clarelli, F., Santoro, S., Lopez, A. B., Quattrini, A., Cestele, S., Chever, O., Tavakoli, M., Malik, R., Kapetis, D., Xenakis, M. N., Mantegazza, M., Battiato, F., Strom, A. & PROPANE Study Grp, May 2019, In : Molecular Pain. 15, p. 1-14 14 p., 1744806919849802.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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

Eijkenboom, I., Vanoevelen, J. M., Hoeijmakers, J. G. J., Wijnen, I., Gerards, M., Faber, C. G. & Smeets, H. J. M., Jul 2019, In : Mitochondrion. 47, p. 273-281 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

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

Eijkenboom, I., Sopacua, M., Otten, A., Gerrits, M., Hoeijmakers, J., Waxman, S. G., Lombardi, R., Lauria, G., Merkies, I. S. J., J.M. Smeets, H., Faber, K., Vanoevelen, J. & PROPANE Study Grp, Jan 2019, In : Experimental Neurology. 311, p. 257-264 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Lacosamide in patients with Na(v)1.7 mutations-related small fibre neuropathy: a randomized controlled trial

de Greef, B. T. A., Hoeijmakers, J. G. J., Geerts, M., Oakes, M., Church, T. J. E., Waxman, S. G., Dib-Hajj, S. D., Faber, C. G. & Merkies, I. S. J., Feb 2019, In : Brain. 142, p. 263-275 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

The Pain Dynamics of Small Fiber Neuropathy

Brouwer, B. A., van Kuijk, S. M. J., Bouwhuis, A., Faber, C. G., van Kleef, M., Merkies, I. S. J. & Hoeijmakers, J. G. J., Jun 2019, In : The Journal of Pain. 20, 6, p. 655-663 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

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

Eijkenboom, I., Sopacua, M., Hoeijmakers, J., de Greef, B., Lindsey, P., Almomani, R., Marchi, M., Vanoevelen, J., J.M. Smeets, H., Waxman, S. G., Lauria, G., Merkies, I., Faber, K. & Gerrits, M., Mar 2019, In : Journal of Neurology Neurosurgery and Psychiatry. 90, 3, p. 342-352 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

2017

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

Hellebrekers, D. M., Sallevelt, S. C. E. H., Theunissen, T. E. J., Hendrickx, A. T. M., Gottschalk, R. W., Hoeijmakers, J. G. J., Habets, D. D., Bierau, J., Schoonderwoerd, K. G. & Smeets, H. J. M., Jun 2017, In : European Journal of Human Genetics. 25, 7, p. 886-888 3 p.

Research output: Contribution to journalArticleAcademicpeer-review

2016

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, J. G. J., Faber, K., Merkies, I. S. J., Lauria, G., Black, J. A. & Waxman, S. G., 7 Nov 2016, In : Molecular Pain. 12, p. 1-13

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
1 Citation (Scopus)

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

de Greef, B. T. A., Geerts, M., Hoeijmakers, J. G. J., Faber, K. & Merkies, I. S. J., 20 Jul 2016, In : Trials. 17, 330.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy

de Greef, B. T. A., Hoeijmakers, J. G. J., Wolters, E. E., Smeets, H. J. M., van den Wijngaard, A., Merkies, I. S. J., Faber, K. & Gerrits, M. M., 11 Feb 2016, In : PLOS ONE. 11, 2, e0148316.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2 Citations (Scopus)

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

Geelen, C. C., Brouwer, B. A., Hoeijmakers, J. G. J., Faber, K., Merkies, I. S. J. & Verbunt, J. A., Jun 2016, In : Journal of the Peripheral Nervous System. 21, 2, p. 96-104

Research output: Contribution to journalArticleAcademicpeer-review

Sodium Channels, Mitochondria, and Axonal Degeneration in Peripheral Neuropathy

Persson, A-K., Hoeijmakers, J. G. J., Estacion, M., Black, J. A. & Waxman, S. G., May 2016, In : Trends in Molecular Medicine. 22, 5, p. 377-390

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Scopus)
2013

Incidence and prevalence of small-fiber neuropathy A survey in the Netherlands

Peters, M. J., Bakkers, M., Merkies, I. S. J., Hoeijmakers, J. G. J., van Raak, E. P. M. & Faber, C. G., 8 Oct 2013, In : Neurology. 81, 15, p. 1356-1360

Research output: Contribution to journalArticleAcademicpeer-review

Na(V)1.7: Stress-induced changes in immunoreactivity within magnocellular neurosecretory neurons of the supraoptic nucleus

Black, J. A., Hoeijmakers, J. G. J., Faber, C. G., Merkies, I. S. J. & Waxman, S. G., 8 Aug 2013, In : Molecular Pain. 9, 39.

Research output: Contribution to journalArticleAcademicpeer-review

7 Citations (Scopus)

Small-Fiber Neuropathy Na(v)1.8 Mutation Shifts Activation to Hyperpolarized Potentials and Increases Excitability of Dorsal Root Ganglion Neurons

Huang, J., Yang, Y., Zhao, P., Gerrits, M. M., Hoeijmakers, J. G. J., Bekelaar, K., Merkies, I. S. J., Faber, C. G., Dib-Hajj, S. D. & Waxman, S. G., 28 Aug 2013, In : Journal of Neuroscience. 33, 35, p. 14087-14097

Research output: Contribution to journalArticleAcademicpeer-review

40 Citations (Scopus)
2012

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, J. G. J., Liu, S., Gerrits, M. M., te Morsche, R. H. M., Lauria, G., Dib-Hajj, S. D., Drenth, J. P. H., Faber, C. G., Merkies, I. S. J. & Waxman, S. G., Sep 2012, In : Brain. 135, p. 2613-2628

Research output: Contribution to journalArticleAcademicpeer-review

40 Citations (Scopus)

Gain-of-function Na(v)1.8 mutations in painful neuropathy

Faber, C. G., Lauria, G., Merkies, I. S. J., Cheng, X., Han, C., Ahn, H-S., Persson, A-K., Hoeijmakers, J. G. J., Gerrits, M. M., Pierro, T., Lombardi, R., Kapetis, D., Dib-Hajj, S. D. & Waxman, S. G., 20 Nov 2012, In : Proceedings of the National Academy of Sciences of the United States of America. 109, 47, p. 19444-19449

Research output: Contribution to journalArticleAcademicpeer-review

120 Citations (Scopus)

Gain of function NaV1.7 mutations in idiopathic small fiber neuropathy

Faber, C. G., Hoeijmakers, J. G. J., Ahn, H-S., Cheng, X., Han, C., Choi, J-S., Estacion, M., Lauria, G., Vanhoutte, E. K., Gerrits, M. M., Dib-Hajj, S., Drenth, J. P. H., Waxman, S. G. & Merkies, I. S. J., Jan 2012, In : Annals of Neurology. 71, 1, p. 26-39

Research output: Contribution to journalArticleAcademicpeer-review

189 Citations (Scopus)

Genetic aspects of sodium channelopathy in small fiber neuropathy

Hoeijmakers, J. G. J., Merkies, I. S. J., Gerrits, M. M., Waxman, S. G. & Faber, C. G., Oct 2012, In : Clinical Genetics. 82, 4, p. 351-358

Research output: Contribution to journalArticleAcademicpeer-review

Na(v)1.7-related small fiber neuropathy Impaired slow-inactivation and DRG neuron hyperexcitability

Han, C., Hoeijmakers, J. G. J., Ahn, H. -S., Zhao, P., Shah, P., Lauria, G., Gerrits, M. M., te Morsche, R. H. M., Dib-Hajj, S. D., Drenth, J. P. H., Faber, C. G., Merkies, I. S. J. & Waxman, S. G., May 2012, In : Neurology. 78, 21, p. 1635-1643

Research output: Contribution to journalArticleAcademicpeer-review

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

Hoeijmakers, J. G., Faber, C. G., Lauria, G., Merkies, I. S. J. & Waxman, S. G., Jul 2012, In : Nature Reviews Neurology. 8, 7, p. 369-379

Research output: Contribution to journalArticleAcademicpeer-review

Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel Na(V)1.7 mutation

Hoeijmakers, J. G. J., Han, C., Merkies, I. S. J., Macala, L. J., Lauria, G., Gerrits, M. M., Dib-Hajj, S. D., Faber, C. G. & Waxman, S. G., Feb 2012, In : Brain. 135, p. 345-358

Research output: Contribution to journalArticleAcademicpeer-review

33 Citations (Scopus)
2011

Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of Na(V)1.7

Estacion, M., Han, C., Choi, J-S., Hoeijmakers, J. G. J., Lauria, G., Drenth, J. P. H., Gerrits, M. M., Dib-Hajj, S. D., Faber, C. G., Merkies, I. S. J. & Waxman, S. G., 2 Dec 2011, In : Molecular Pain. 7, p. 92

Research output: Contribution to journalArticleAcademicpeer-review