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Research Output 1998 2019

2019

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

May 2019, In : Molecular Pain. 15, p. 1-14 14 p., 1744806919849802.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients

ten Dam, L., Frankhuizen, W. S., Linssen, W. H. J. P., Straathof, C. S., Niks, E. H., Faber, K., Fock, A., Kuks, J. B., Brusse, E., de Coo, R., Voermans, N., Verrips, A., Hoogendijk, J. E., van Der Pol, L., Westra, D., de Visser, M., van der Kooi, A. J. & Ginjaar, I., Aug 2019, In : Clinical Genetics. 96, 2, p. 126-133 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

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

Dystrophin is expressed in smooth muscle and afferent nerve fibers in the rat urinary bladder

Lionarons, J. M., Hoogland, G., Hendriksen, R. G. F., Faber, C. G., Hellebrekers, D. M. J., Van Koeveringe, G. A., Schipper, S. & Vles, J. S. H., Aug 2019, In : Muscle & Nerve. 60, 2, p. 202-210 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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., 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

Patients' and physicians' interpretation of chemotherapy-induced peripheral neurotoxicity

Mar 2019, In : Journal of the Peripheral Nervous System. 24, 1, p. 111-119 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Structural white matter networks in myotonic dystrophy type 1

van Dorst, M., Okkersen, K., Kessels, R. P. C., Meijer, F. J. A., Monckton, D. G., van Engelen, B. G. M., Tuladhar, A. M., Raaphorst, J., Nikolaus, S., Cornelissen, Y., van Nimwegen, M., Maas, D., Klerks, E., Bouman, S., Knoop, H., Heskamp, L., Heerschap, A., Rahmadi, R., Groot, P., Heskes, T. & 30 others, Kapusta, K., Glennon, J., Abghari, S., Aschrafi, A., Poelmans, G., Lochmueller, H., Gorman, G., Moreno, A. C. J., Trenell, M., van Laar, S., Wood, L., Cassidy, S., Newman, J., Charman, S., Steffaneti, R., Taylor, L., Brownrigg, A., Day, S., Atalaia, A., Schoser, B., Wenninger, S., Schueller, A., Stahl, K., Kuenzel, H., Wolf, M., Jelinek, A., Bassez, G., Daidj, F., Faber, C. & Merkies, I., 2019, In : NeuroImage: Clinical. 21, p. 1-10 10 p., 101615.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

The minimum clinically important difference: which direction to take

Draak, T. H. P., de Greef, B. T. A., Faber, C. G. & Merkies, I. S. J., Jun 2019, In : European Journal of Neurology. 26, 6, p. 850-855 6 p.

Research output: Contribution to journalReview articleAcademicpeer-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

Validation of the Serbian version of inflammatory Rasch-built overall disability scale in patients with chronic inflammatory demyelinating polyradiculoneuropathy

Peric, S., Bozovic, I., Pruppers, M. H. J., Bjelica, B., Stevic, Z., Faber, C. G., Merkies, I. S. J. & Basta, I., Sep 2019, In : Journal of the Peripheral Nervous System. 24, 3, p. 260-267 8 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

2018

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

de Greef, B. T. A., Hoeijmakers, J. G. J., Gorissen-Brouwers, C. M. L., Geerts, M., Faber, C. G. & Merkies, I. S. J., 1 Feb 2018, In : European Journal of Neurology. 25, 2, p. 348-355 8 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial

Okkersen, K., Jimenez-Moreno, C., Wenninger, S., Daidj, F., Glennon, J., Cumming, S., Littleford, R., Monckton, D. G., Lochmuller, H., Catt, M., Faber, C. G., Hapca, A., Donnan, P. T., Gorman, G., Bassez, G., Schoser, B., Knoop, H., Treweek, S. & van Engelen, B. G. M., 1 Aug 2018, In : Lancet Neurology. 17, 8, p. 671-680 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Greater corneal nerve loss at the inferior whorl is related to the presence of diabetic neuropathy and painful diabetic neuropathy

Kalteniece, A., Ferdousi, M., Petropoulos, I., Azmi, S., Adam, S., Fadavi, H., Marshall, A., Boulton, A. J. M., Efron, N., Faber, C. G., Lauria, G., Soran, H. & Malik, R. A., 19 Feb 2018, In : Scientific Reports. 8, 8 p., 3283.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands

Stunnenberg, B. C., Raaphorst, J., Deenen, J. C. W., Links, T. P., Wilde, A. A., Verbove, D. J., Kamsteeg, E. J., van den Wijngaard, A., Faber, C. G., van der Wilt, G. J., van Engelen, B. G. M., Drost, G. & Ginjaar, H. B., 1 May 2018, In : Neuromuscular Disorders. 28, 5, p. 402-407 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Quality of life in inflammatory neuropathies: the IN-QoL

Draak, T. H. P., Faber, C. G. & Merkies, I. S. J., 1 Mar 2018, In : Journal of Neurology Neurosurgery and Psychiatry. 89, 3, p. 256-262 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Severity of Neuropathy Is Associated With Long-term Spinal Cord Stimulation Outcome in Painful Diabetic Peripheral Neuropathy: Five-Year Follow-up of a Prospective Two-Center Clinical Trial

van Beek, M., Geurts, J. W., Slangen, R., Schaper, N. C., Faber, C. G., Joosten, E. A., Dirksen, C. D., van Dongen, R. T., van Kuijk, S. M. J. & van Kleef, M., 1 Jan 2018, In : Diabetes Care. 41, 1, p. 32-38 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

2017

A Trial-Based Economic Evaluation Comparing Spinal Cord Stimulation With Best Medical Treatment in Painful Diabetic Peripheral Neuropathy

Slangen, R., Faber, C. G., Schaper, N. C., Joosten, E. A., van Dongen, R. T., Kessels, A. G., van Kleef, M. & Dirksen, C. D., Apr 2017, In : The Journal of Pain. 18, 4, p. 405-414 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

COL6A5 variants in familial neuropathic chronic itch

Martinelli-Boneschi, F., Colombi, M., Castori, M., Devigili, G., Eleopra, R., Malik, R. A., Ritelli, M., Zoppi, N., Dordoni, C., Sorosina, M., Grammatico, P., Fadavi, H., Gerrits, M. M., Almomani, R., Faber, C. G., Merkies, I. S. J., Toniolo, D., Cocca, M., Doglioni, C., Waxman, S. G. & 9 others, Dib-Hajj, S. D., Taiana, M. M., Sassone, J., Lombardi, R., Cazzato, D., Zauli, A., Santoro, S., Marchi, M. & Lauria, G., Mar 2017, In : Brain. 140, p. 555-567 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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

Kapetis, D., Sassone, J., Yang, Y., Galbardi, B., Xenakis, M. N., Westra, R. L., Szklarczyk, R., Lindsey, P., Faber, C. G., Gerrits, M., Merkies, I. S. J., Dib-Hajj, S. D., Mantegazza, M., Waxman, S. G., J.M. Smeets, H. & Lauria, G., 24 Feb 2017, In : BMC Systems Biology. 11, 16 p., 28.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2016
1 Citation (Scopus)

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
2 Citations (Scopus)

Correlation of the patient's reported outcome Inflammatory-RODS with an objective metric in immune-mediated neuropathies

Draak, T. H. P., Gorson, K. C., Vanhoutte, E. K., van Nes, S. I., van Doorn, P. A., Cornblath, D. R., van den Berg, L. H., Faber, C. G. & Merkies, I. S. J., Jul 2016, In : European Journal of Neurology. 23, 7, p. 1248-1253

Research output: Contribution to journalArticleAcademicpeer-review

1 Citation (Scopus)

Does ability to walk reflect general functionality in inflammatory neuropathies?

Draak, T. H. P., Gorson, K. C., Vanhoutte, E. K., van Nes, S. I., van Doorn, P. A., Cornblath, D. R., van den Berg, L. H., Faber, K. & Merkies, I. S. J., Jun 2016, In : Journal of the Peripheral Nervous System. 21, 2, p. 74-81

Research output: Contribution to journalArticleAcademicpeer-review

IGM ANTI-MAG PERIPHERAL NEUROPATHY: FROM PROPER ASSESSMENT TO TRIAL NEEDS (IMAGINE STUDY)

Pruppers, M., Merkies, I. S. J., Faber, C. G., Lunn, M. P. T., Leger, J-M., Nobile-Orazio, E. & Notermans, N., Sep 2016, In : Journal of the Peripheral Nervous System. 21, 3, p. 202-202

Research output: Contribution to journalConference Abstract/Poster in journalAcademic

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
2 Citations (Scopus)

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

Outcome Measures in Guillain-Barré Syndrome: From a Plummer’s Tool to Interval-Based Metrics

Merkies, I. S. J., Pruppers, M. & Faber, K., 2016, GBS100: Celebrating a Century of Progress in Guillain-Barré Syndrome. Peripheral Nerve Society, p. 442-450

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

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

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

Hoeijmakers, J. G. J., Faber, K., Miedema, C. J., Merkies, I. S. J. & Vles, J. S. H., Oct 2016, In : Pediatrics. 138, 4, p. e1-e6

Research output: Contribution to journalEditorialAcademicpeer-review

2 Citations (Scopus)

The epidemiology of neuromuscular disorders: Age at onset and gender in the Netherlands

Deenen, J. C. W., van Doorn, P. A., Faber, K., van der Kooi, A. J., Kuks, J. B. M., Notermans, N. C., Visser, L. H., Horlings, C. G. C., Verschuuren, J. J. G. M., Verbeek, A. L. M. & van Engelen, B. G. M., Jul 2016, In : Neuromuscular Disorders. 26, 7, p. 447-452

Research output: Contribution to journalArticleAcademicpeer-review

2015
1079 Downloads (Pure)

De tijden veranderen - nu wij nog …

Faber, C. G., 5 Jun 2015, Maastricht: Maastricht University. 23 p.

Research output: Book/ReportInaugural speechPopular

Open Access
File
2014
32 Citations (Scopus)

Physician-assessed and patient-reported outcome measures in chemotherapy-induced sensory peripheral neurotoxicity: two sides of the same coin

Alberti, P., Rossi, E., Cornblath, D. R., Merkies, I. S. J., Postma, T. J., Frigeni, B., Bruna, J., Velasco, R., Argyriou, A. A., Kalofonos, H. P., Psimaras, D., Ricard, D., Pace, A., Galie, E., Briani, C., Dalla Torre, C., Faber, C. G., Lalisang, R. I., Boogerd, W., Brandsma, D. & 8 others, Koeppen, S., Hense, J., Storey, D., Kerrigan, S., Schenone, A., Fabbri, S., Valsecchi, M. G. & Cavaletti, G., Jan 2014, In : Annals of Oncology. 25, 1, p. 257-264

Research output: Contribution to journalArticleAcademicpeer-review

16 Citations (Scopus)

Spinal Cord Stimulation and Pain Relief in Painful Diabetic Peripheral Neuropathy: a Prospective Two-Center Randomized Controlled Trial

Slangen, R., Schaper, N. C., Faber, C. G., Joosten, E. A., Dirksen, C. D., van Dongen, R. T., Kessels, A. & van Kleef, M., Nov 2014, In : Diabetes Care. 37, 11, p. 3016-3024 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

6 Citations (Scopus)

Swallowing assessment in myotonic dystrophy type 1 using fiberoptic endoscopic evaluation of swallowing (FEES)

Pilz, W., Baijens, L. W. J., Lima Passos, V., Verdenschot, R., Wesseling, F., Roodenburg, N., Faber, C. G. & Kremer, B., Dec 2014, In : Neuromuscular Disorders. 24, 12, p. 1054-1062 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

2013
13 Citations (Scopus)

Rasch-built Overall Disability Scale for patients with chemotherapy-induced peripheral neuropathy (CIPN-R-ODS)

Binda, D., Vanhoutte, E. K., Cavaletti, G., Cornblath, D. R., Postma, T. J., Frigeni, B., Alberti, P., Bruna, J., Velasco, R., Argyriou, A. A., Kalofonos, H. P., Psimaras, D., Ricard, D., Pace, A., Galie, E., Briani, C., Torre, C. D., Lalisang, R. I., Boogerd, W., Brandsma, D. & 45 others, Koeppen, S., Hense, J., Storey, D., Kerrigan, S., Schenone, A., Fabbri, S., Rossi, E., Valsecchi, M. G., Faber, C. G., Merkies, I. S. J., Galimberti, S., Lanzani, F., Mattavelli, L., Piatti, M. L., Bidoli, P., Cazzaniga, M., Cortinovis, D., Lucchetta, M., Campagnolo, M., Bakkers, M., Brouwer, B., Boogerd, W., Grant, R., Reni, L., Piras, B., Pessino, A., Padua, L., Granata, G., Leandri, M., Ghignotti, I., Plasmati, R., Pastorelli, F., Heimans, J. J., Eurelings, M., Meijer, R. J., Grisold, W., Pozza, E. L., Mazzeo, A., Toscano, A., Russo, M., Tomasello, C., Altavilla, G., Prado, M. P., Dominguez Gonzalez, C. & Dorsey, S. G., Sep 2013, In : European Journal of Cancer. 49, 13, p. 2910-2918

Research output: Contribution to journalArticleAcademicpeer-review

Temperature threshold testing: a systematic review

Bakkers, M., Faber, K., Peters, M. J. H., Reulen, J. P. H., Franssen, H., Fischer, T. Z. & Merkies, I. S. J., Mar 2013, In : Journal of the Peripheral Nervous System. 18, 1, p. 7-18

Research output: Contribution to journalArticleAcademicpeer-review

83 Citations (Scopus)

The chemotherapy-induced peripheral neuropathy outcome measures standardization study: from consensus to the first validity and reliability findings

Cavaletti, G., Cornblath, D. R., Merkies, I. S. J., Postma, T. J., Rossi, E., Frigeni, B., Alberti, P., Bruna, J., Velasco, R., Argyriou, A. A., Kalofonos, H. P., Psimaras, D., Ricard, D., Pace, A., Galie, E., Briani, C., Dalla Torre, C., Faber, C. G., Lalisang, R. I., Boogerd, W. & 8 others, Brandsma, D., Koeppen, S., Hense, J., Storey, D., Kerrigan, S., Schenone, A., Fabbri, S. & Valsecchi, M. G., Feb 2013, In : Annals of Oncology. 24, 2, p. 454-462

Research output: Contribution to journalArticleAcademicpeer-review

2012

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

Long-term remission of CIDP after pulsed dexamethasone or short-term prednisolone treatment

Faber, K., Apr 2012, In : Neurology. 78, 14, p. 1079-1084

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

Pain relief and quality-of-life improvement after spinal cord stimulation in painful diabetic polyneuropathy: a pilot study(dagger)

Pluijms, W. A., Slangen, R., Bakkers, M., Faber, C. G., Merkies, I. S. J., Kessels, A. G., Dirksen, C. D., Joosten, E. A., Reulen, J. P. H., van Dongen, R. T., Schaper, N. C. & van Kleef, M., Oct 2012, In : British Journal of Anaesthesia. 109, 4, p. 623-629

Research output: Contribution to journalArticleAcademicpeer-review

2011

Morphometry of dermal nerve fibers in human skin

Lauria, G., Cazzato, D., Porretta-Serapiglia, C., Casanova-Molla, J., Taiana, M., Penza, P., Lombardi, R., Faber, C. G. & Merkies, I. S. J., Jul 2011, In : Neurology. 77, 3, p. 242-249

Research output: Contribution to journalArticleAcademicpeer-review

Rasch-built Overall Disability Scale (R-ODS) for immune-mediated peripheral neuropathies

van Nes, S. I., Vanhoutte, E. K., van Doorn, P. A., Hermans, M., Bakkers, M., Kuitwaard, K., Faber, C. G. & Merkies, I. S. J., 25 Jan 2011, In : Neurology. 76, 4, p. 337-345

Research output: Contribution to journalArticleAcademicpeer-review

2010

Distinguishing acute-onset CIDP from fluctuating Guillain-Barre syndrome A prospective study

Faber, K., 25 May 2010, In : Neurology. 74, 21, p. 1680-1686

Research output: Contribution to journalArticleAcademicpeer-review

Hereditary muscular dystrophies and the heart

Hermans, M. C. E., Pinto, Y. M., Merkies, I. S. J., de Die-Smulders, C. E. M., Crijns, H. J. G. M. & Faber, C. G., Aug 2010, In : Neuromuscular Disorders. 20, 8, p. 479-492

Research output: Contribution to journalArticleAcademicpeer-review

Isolated eyelid closure myotonia in two families with sodium channel myotonia

Stunnenberg, B. C., Ginjaar, H. B., Trip, J., Faber, C. G., van Engelen, B. G. M. & Drost, G., May 2010, In : Neurogenetics. 11, 2, p. 257-260

Research output: Contribution to journalArticleAcademicpeer-review

10 Citations (Scopus)

Pain and autonomic dysfunction in patients with sarcoidosis and small fibre neuropathy

Bakkers, M., Faber, C. G., Drent, M., Hermans, M. C., van Nes, S. I., Lauria, G., de Baets, M. H. V. & Merkies, I. S., Dec 2010, In : Journal of Neurology. 257, 12, p. 2086-2090 5 p.

Research output: Contribution to journalArticleAcademicpeer-review