Search Results - "Faber, C. G."

Associated conditions in small fiber neuropathy – a large cohort study and review of the literature by Greef, B. T. A., Hoeijmakers, J. G. J., Gorissen‐Brouwers, C. M. L., Geerts, M., Faber, C. G., Merkies, I. S. J.

“…Background and purpose Small fiber neuropathy (SFN) is a common disorder leading to neuropathic pain and autonomic symptoms. The objective of this study was to…”
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Rasch-built Overall Disability Scale (R-ODS) for immune-mediated peripheral neuropathies by VAN NES, S. I, VANHOUTTE, E. K, VAN DOORN, P. A, HERMANS, M, BAKKERS, M, KUITWAARD, K, FABER, C. G, MERKIES, I. S. J

“…To develop a patient-based, linearly weighted scale that captures activity and social participation limitations in patients with Guillain-Barré syndrome (GBS),…”
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Intraepidermal nerve fiber density and its application in sarcoidosis by BAKKERS, M, MERKIES, I. S. J, LAURIA, G, DEVIGILI, G, PENZA, P, LOMBARDI, R, HERMANS, M. C. E, VAN NES, S. I, DE BAETS, M, FABER, C. G

“…Intraepidermal nerve fiber density (IENFD) is considered a good diagnostic tool for small fiber neuropathy (SFN). To assess stratified normative values for…”
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Nav1.7-related small fiber neuropathy: Impaired slow-inactivation and DRG neuron hyperexcitability by HAN, C, HOEIJMAKERS, J. G. J, FABER, C. G, MERKIES, I. S. J, WAXMAN, S. G, 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

“…Although small fiber neuropathy (SFN) often occurs without apparent cause, the molecular etiology of idiopathic SFN (I-SFN) has remained enigmatic. Sodium…”
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Ca2+ toxicity due to reverse Na+/Ca2+ exchange contributes to degeneration of neurites of DRG neurons induced by a neuropathy-associated Nav1.7 mutation by Estacion, M, Vohra, B P S, Liu, S, Hoeijmakers, J, Faber, C G, Merkies, I S J, Lauria, G, Black, J A, Waxman, S G

“…Gain-of-function missense mutations in voltage-gated sodium channel Nav1.7 have been linked to small-fiber neuropathy, which is characterized by burning pain,…”
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Genetic aspects of sodium channelopathy in small fiber neuropathy by Hoeijmakers, JGJ, Merkies, ISJ, Gerrits, MM, Waxman, SG, Faber, CG

“…Small fiber neuropathy (SFN) is a disorder typically dominated by neuropathic pain and autonomic dysfunction, in which the thinly myelinated Aδ‐fibers and…”
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Redefining the clinical phenotypes of non-dystrophic myotonic syndromes by Trip, J, Drost, G, Ginjaar, H B, Nieman, F H M, van der Kooi, A J, de Visser, M, van Engelen, B G M, Faber, C G

“…Objective:To redefine phenotypical characteristics for both chloride (ClCh) and sodium channelopathies (NaCh) in non-dystrophic myotonic syndromes…”
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Small fiber neuropathy: a common and important clinical disorder by Hoitsma, E., Reulen, J.P.H., de Baets, M., Drent, M., Spaans, F., Faber, C.G.

“…Small fiber neuropathy (SFN) is a neuropathy selectively involving small diameter myelinated and unmyelinated nerve fibers. Interest in this disorder has…”
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Pain relief and quality-of-life improvement after spinal cord stimulation in painful diabetic polyneuropathy: a pilot study by 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.

“…Painful diabetic polyneuropathy (PDP) is associated with high pain scores and is difficult to treat. Therefore, spinal cord stimulation (SCS) has been…”
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Morphometry of dermal nerve fibers in human skin by LAURIA, G, CAZZATO, D, PORRETTA-SERAPIGLIA, C, CASANOVA-MOLLA, J, TAIANA, M, PENZA, P, LOMBARDI, R, FABER, C. G, MERKIES, I. S. J

“…We aimed to assess the innervation density of dermal nerves in human skin biopsies by bright-field immunohistochemistry. The size of dermal area where nerve…”
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A natural history study of late onset spinal muscular atrophy types 3b and 4 by Piepers, S., van den Berg, L. H., Brugman, F., Scheffer, H., Ruiterkamp-Versteeg, M., van Engelen, B. G., Faber, C. G., de Visser, M., van der Pol, W.-L., Wokke, J. H. J.

“…Background Spinal muscular atrophy (SMA) is caused by a homozygous deletion of the survival motor neuron (SMN)1 gene. The nearly identical SMN2 gene plays a…”
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Small fibre neuropathy in sarcoidosis by Hoitsma, E, Marziniak, M, Faber, CG, Reulen, JPH, Sommer, C, De Baets, M, Drent, M

“…Some patients with sarcoidosis have unexplained pain and dysaesthesia. We did quantitative sensory testing in 31 sarcoidosis patients with pain or autonomic…”
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Revising two-point discrimination assessment in normal aging and in patients with polyneuropathies by van Nes, S I, Faber, C G, Hamers, R M T P, Harschnitz, O, Bakkers, M, Hermans, M C E, Meijer, R J, van Doorn, P A, Merkies, I S J

“…Objectives:To revise the static and dynamic normative values for the two-point discrimination test and to examine its applicability and validity in patients…”
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Drug treatment for myotonia by Trip, J, Drost, G, van Engelen, B G M, Faber, C G

“…Abnormal delayed relaxation of skeletal muscles, known as myotonia, can cause disability in myotonic disorders. Sodium channel blockers, tricyclic…”
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Abnormal warm and cold sensation thresholds suggestive of small-fibre neuropathy in sarcoidosis by Hoitsma, E, Drent, M, Verstraete, E, Faber, C.G, Troost, J, Spaans, F, Reulen, J.P.H

“…Objective: A substantial number of sarcoidosis patients report apparently non-specific symptoms such as pain, for which no organic substrate has yet been…”
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Health status in non-dystrophic myotonias: close relation with pain and fatigue by Trip, J., de Vries, J., Drost, G., Ginjaar, H. B., van Engelen, B. G. M., Faber, C. G.

“…To determine self-reported health status in non-dystrophic myotonias (NDM) and its relationship to painful myotonia and fatigue. In a cross-sectional study, 32…”
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Pain and autonomic dysfunction in patients with sarcoidosis and small fibre neuropathy by Bakkers, M., Faber, C. G., Drent, M., Hermans, M. C. E., van Nes, S. I., Lauria, G., De Baets, M., Merkies, I. S. J.

“…Small fibre neuropathy (SFN) has been demonstrated in sarcoidosis. However, a systematic analysis of neuropathic pain and autonomic symptoms, key features of…”
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The minimum clinically important difference: which direction to take by Draak, T. H. P., de Greef, B. T. A., Faber, C. G., Merkies, I. S. J.

“…Over the past decades in modern medicine, there has been a shift from statistical significance to clinical relevance when it comes to interpreting results from…”
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Isolated eyelid closure myotonia in two families with sodium channel myotonia by Stunnenberg, B. C., Ginjaar, H. B., Trip, J., Faber, C. G., van Engelen, B. G., Drost, G.

“…Sodium channelopathies (NaCh), as part of the non-dystrophic myotonic syndromes (NDMs), reflect a heterogeneous group of clinical phenotypes accompanied by a…”
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Primary lateral sclerosis as a phenotypic manifestation of familial ALS by BRUGMAN, F, WOKKE, J. H. J, VIANNEY DE JONG, J. M. B, FRANSSEN, H, FABER, C. G, VAN DEN BERG, L. H

“…Primary lateral sclerosis (PLS) is a diagnosis of exclusion in patients with progressive spinobulbar spasticity and could be part of the clinical spectrum of…”
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