Research Topics
Species | Catharina G FaberSummaryCountry: The Netherlands Publications
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Detail Information
Publications
Gain of function Naν1.7 mutations in idiopathic small fiber neuropathyCatharina G Faber
Department of Neurology, University Medical Center Maastricht, Maastricht, The Netherlands
Ann Neurol 71:26-39. 2012..7, which is preferentially expressed in small diameter peripheral axons...
Entrapment in anti myelin-associated glycoprotein neuropathyCatharina G Faber
Dept of Neurology, University Hospital Maastricht, 5800, 6202 AZ, Maastricht, The Netherlands
J Neurol 256:620-4. 2009..In conclusion, increased sensitivity for entrapment may occur in anti-MAG neuropathy and contribute to part of the nerve damage...
AChR deficiency due to epsilon-subunit mutations: two common mutations in the NetherlandsCatharina G Faber
Department of Neurology, Maastricht University Medical Centre, PO Box 5800, 6202 AZ, Maastricht, The Netherlands
J Neurol 256:1719-23. 2009....
Gain-of-function Nav1.8 mutations in painful neuropathyCatharina G Faber
Department of Neurology, University Medical Centre Maastricht, 6202 AZ Maastricht, The Netherlands
Proc Natl Acad Sci U S A 109:19444-9. 2012..8 mutations enhance the channel's response to depolarization and produce hyperexcitability in DRG neurons. These observations suggest that mutations of Na(v)1.8 contribute to painful peripheral neuropathy...
Peripheral neuropathy in myotonic dystrophy type 1Mieke C E Hermans
Department of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands
J Peripher Nerv Syst 16:24-9. 2011..In conclusion, peripheral nerve involvement may be one of the multisystemic manifestations of DM1, but is usually subclinical. Other causes should be excluded when sensory symptoms or signs are severe...
Revised normative values for grip strength with the Jamar dynamometerMartine J H Peters
Department of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands
J Peripher Nerv Syst 16:47-50. 2011..Hand dominance had no influence. Other personal factors only minimally influenced final values. This study provides revised normative GS values for the Jamar dynamometer...
Fatigue and daytime sleepiness scale in myotonic dystrophy type 1Mieke C E Hermans
Department of Neurology, Maastricht University Medical Centre P O Box 5800, 6202 AZ, Maastricht, The Netherlands
Muscle Nerve 47:89-95. 2013..Fatigue and excessive daytime sleepiness are frequent complaints in myotonic dystrophy type 1 (DM1) that often overlap. We aimed to construct a combined fatigue and daytime sleepiness rating scale for DM1 using the Rasch measurement model...
Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance studyMieke C E Hermans
Department of Neurology, Maastricht University Medical Centre, PO Box 5800, Maastricht, AZ, 6202, The Netherlands
J Cardiovasc Magn Reson 14:48. 2012..Considering the importance of cardiomyopathy as a predictor of prognosis, we aimed to systematically evaluate and describe structural and functional cardiac alterations in patients with MD1...
Small-fibre neuropathies--advances in diagnosis, pathophysiology and managementJanneke G Hoeijmakers
Department of Neurology, University Medical Center Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands
Nat Rev Neurol 8:369-79. 2012..In this Review, we discuss recent advances in the diagnosis and pathophysiology of SFN, highlighting how improved understanding of these aspects of the disorder will contribute to better patient management...
Temperature threshold testing: a systematic reviewMayienne Bakkers
Department of Neurology Maastricht University Medical Center, Maastricht, The Netherlands
J Peripher Nerv Syst 18:7-18. 2013..Consensus is needed to standardize the use of TTT as a diagnostic and follow-up tool in patients...
[Small fibre neuropathy: knowledge is power]Jannkek G J Hoeijmakers
Maastricht Universitair Medisch Centrum, Maastricht, The Netherlands
Ned Tijdschr Geneeskd 156:A4224. 2012..Treatment of small fibre neuropathy consists of symptomatic pain relief and, if possible, treatment of the underlying cause of the condition...
Outcome measures in peripheral neuropathies: requirements through statementsIngemar S J Merkies
Department of Neurology, Spaarne Hospital, Hoofddorp, The Netherlands
Curr Opin Neurol 25:556-63. 2012..The aim of this review is to inform and educate clinicians through statements about the most important clinimetric requirements for outcome measures in peripheral neuropathies...
Rasch-built myotonic dystrophy type 1 activity and participation scale (DM1-Activ)Mieke C E Hermans
Department of Neurology, Maastricht University Medical Centre, P O Box 5800, 6202 AZ, Maastricht, The Netherlands
Neuromuscul Disord 20:310-8. 2010..DM1-Activ is a practical, reliable and valid outcome measure that fulfils all clinimetric requirements. Further evaluation of this scale is needed to provide a nomogram for clinical use...
Fatigue in immune-mediated neuropathiesIngemar S J Merkies
Department of Neurology, Spaarne Hospital, Hoofddorp, The Netherlands
Neuromuscul Disord 22:S203-7. 2012..Aspects like the degree of known fatigue in these disorders, its impact on daily functioning and quality of life, the suggested underlying mechanisms, and possible therapeutic interventions for fatigue will be addressed in this review...
Small fibre neuropathyGiuseppe Lauria
Neuromuscular Diseases Unit, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy
Curr Opin Neurol 25:542-9. 2012..This review summarizes the most recent advances in classification, diagnostic assessment, and treatment of small fibre neuropathy (SFN)...
Improving fatigue assessment in immune-mediated neuropathies: the modified Rasch-built fatigue severity scaleSonja I van Nes
Department of Neurology, Erasmus Medical Centre Rotterdam, Rotterdam, The Netherlands
J Peripher Nerv Syst 14:268-78. 2009..In conclusion, a 7-item linearly weighted Rasch-built modified FSS is presented for more proper assessment of fatigue in future studies in patients with immune-mediated neuropathies...
[Statistical significance or clinical relevance?]Els K Vanhoutte
Maastricht Universitair Medisch Centrum, afd Neurologie, Maastricht, The Netherlands
Ned Tijdschr Geneeskd 154:A2516. 2010..This was demonstrated using various MCID cut-off values...
Electrical spinal cord stimulation in painful diabetic polyneuropathy, a systematic review on treatment efficacy and safetyWouter A Pluijms
Department of Anaesthesiology, Maastricht University Medical Centre, Maastricht, The Netherlands
Eur J Pain 15:783-8. 2011..Subsequently, data were recruited on the efficacy and safety of spinal cord stimulation in this disorder...
Outcome measures in immune-mediated neuropathies: the need to standardize their use and to understand the clinimetric essentialsSonja I van Nes
Department of Neurology, Erasmus Medical Centre, Rotterdam Department of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands
J Peripher Nerv Syst 13:136-47. 2008....
