Catharina G Faber

Summary

Country: The Netherlands

Publications

  1. doi Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy
    Catharina G Faber
    Department of Neurology, University Medical Center Maastricht, Maastricht, The Netherlands
    Ann Neurol 71:26-39. 2012
  2. pmc Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study
    Nadine A M E van der Beek
    Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, s Gravendijkwal 230, 3015 CE, Rotterdam, The Netherlands
    Orphanet J Rare Dis 7:88. 2012
  3. pmc Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study
    Juna M de Vries
    Department of Neurology and Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Orphanet J Rare Dis 7:73. 2012
  4. pmc NaV1.7: stress-induced changes in immunoreactivity within magnocellular neurosecretory neurons of the supraoptic nucleus
    Joel A Black
    Department of Neurology, Yale University School of Medicine, New Haven, CT 06510, USA
    Mol Pain 9:39. 2013
  5. pmc AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands
    Catharina G Faber
    Department of Neurology, Maastricht University Medical Centre, PO Box 5800, 6202 AZ, Maastricht, The Netherlands
    J Neurol 256:1719-23. 2009
  6. doi Entrapment in anti myelin-associated glycoprotein neuropathy
    Catharina G Faber
    Dept of Neurology, University Hospital Maastricht, 5800, 6202 AZ, Maastricht, The Netherlands
    J Neurol 256:620-4. 2009
  7. doi Small fibers, large impact: quality of life in small-fiber neuropathy
    Mayienne Bakkers
    Department of Neurology, Maastricht University Medical Centre, P O Box 5800, 6202 AZ, Maastricht, The Netherlands
    Muscle Nerve 49:329-36. 2014
  8. pmc Gain-of-function Nav1.8 mutations in painful neuropathy
    Catharina 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
  9. doi Peripheral neuropathy in myotonic dystrophy type 1
    Mieke C E Hermans
    Department of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands
    J Peripher Nerv Syst 16:24-9. 2011
  10. doi Revised normative values for grip strength with the Jamar dynamometer
    Martine J H Peters
    Department of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands
    J Peripher Nerv Syst 16:47-50. 2011

Collaborators

Detail Information

Publications28

  1. doi Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy
    Catharina 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...
  2. pmc Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study
    Nadine A M E van der Beek
    Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, s Gravendijkwal 230, 3015 CE, Rotterdam, The Netherlands
    Orphanet J Rare Dis 7:88. 2012
    ..Furthermore, we defined the natural disease course and identified prognostic factors for disease progression...
  3. pmc Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study
    Juna M de Vries
    Department of Neurology and Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Orphanet J Rare Dis 7:73. 2012
    ..We investigated whether it alters the course of disease, and also identified potential prognostic factors...
  4. pmc NaV1.7: stress-induced changes in immunoreactivity within magnocellular neurosecretory neurons of the supraoptic nucleus
    Joel A Black
    Department of Neurology, Yale University School of Medicine, New Haven, CT 06510, USA
    Mol Pain 9:39. 2013
    ..The two sodium channels previously studied within the rat hypothalamic supraoptic nucleus, NaV1.2 and NaV1.6, display up-regulated expression in response to osmotic stress...
  5. pmc AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands
    Catharina G Faber
    Department of Neurology, Maastricht University Medical Centre, PO Box 5800, 6202 AZ, Maastricht, The Netherlands
    J Neurol 256:1719-23. 2009
    ....
  6. doi Entrapment in anti myelin-associated glycoprotein neuropathy
    Catharina 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...
  7. doi Small fibers, large impact: quality of life in small-fiber neuropathy
    Mayienne Bakkers
    Department of Neurology, Maastricht University Medical Centre, P O Box 5800, 6202 AZ, Maastricht, The Netherlands
    Muscle Nerve 49:329-36. 2014
    ..The impact of small-fiber neuropathy (SFN) on patients' quality of life (QOL) has not been studied extensively. Our aim was to determine the impact of SFN on QOL and examine possible determinants...
  8. pmc Gain-of-function Nav1.8 mutations in painful neuropathy
    Catharina 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...
  9. doi Peripheral neuropathy in myotonic dystrophy type 1
    Mieke 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...
  10. doi Revised normative values for grip strength with the Jamar dynamometer
    Martine 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...
  11. doi Temperature threshold testing: a systematic review
    Mayienne 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...
  12. doi Fatigue and daytime sleepiness scale in myotonic dystrophy type 1
    Mieke 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...
  13. doi Optimizing temperature threshold testing in small-fiber neuropathy
    Mayienne Bakkers
    Department of Neurology, Maastricht University Medical Center, P O Box 5800, 6202 AZ, Maastricht, The Netherlands
    Muscle Nerve 51:870-6. 2015
    ..We examined optimization of a temperature threshold testing (TTT) protocol for patients with suspected small-fiber neuropathy (SFN) to lessen the burden for both patients and technicians, without sacrificing accuracy...
  14. pmc Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study
    Mieke 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...
  15. doi Small-fibre neuropathies--advances in diagnosis, pathophysiology and management
    Janneke 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...
  16. doi Channelopathies, painful neuropathy, and diabetes: which way does the causal arrow point?
    Janneke G J Hoeijmakers
    Department of Neurology, Maastricht University Medical Center, Maastricht, 6202 AZ, The Netherlands
    Trends Mol Med 20:544-50. 2014
    ..We suggest that mutations of sodium channel NaV1.7, which is present in both cell types, may increase susceptibility for development of diabetes via β cell injury and produce painful neuropathy via a distinct effect on DRG neurons. ..
  17. doi Spinal cord stimulation and pain relief in painful diabetic peripheral neuropathy: a prospective two-center randomized controlled trial
    Rachel Slangen
    Department of Anesthesiology and Pain Medicine, Maastricht University Medical Centre, Maastricht, The Netherlands
    Diabetes Care 37:3016-24. 2014
    ..Small observational studies suggested that spinal cord stimulation (SCS) may have positive effects...
  18. doi Painful neuropathies: the emerging role of sodium channelopathies
    Brigitte A Brouwer
    Department of Anesthesiology and Pain Management, Maastricht University Medical Center, Maastricht, The Netherlands
    J Peripher Nerv Syst 19:53-65. 2014
    ..This review will focus on the emerging role of sodium channelopathies in painful peripheral neuropathies, which could serve as a basis for novel therapeutic strategies. ..
  19. ncbi [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...
  20. doi Outcome measures in peripheral neuropathies: requirements through statements
    Ingemar 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...
  21. doi 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...
  22. doi Advances in diagnostics and outcome measures in peripheral neuropathies
    Ingemar S J Merkies
    Department of Neurology, Spaarne Hospital, Hoofddorp, The Netherlands Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands
    Neurosci Lett 596:3-13. 2015
    ..Recent developments in defining the optimal set of outcome measures in inflammatory neuropathies may serve as an example for other conditions. Diagnostic and outcome measure advances in peripheral neuropathies will be discussed. ..
  23. doi Fatigue in immune-mediated neuropathies
    Ingemar 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...
  24. doi Small fibre neuropathy
    Giuseppe 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)...
  25. doi Improving fatigue assessment in immune-mediated neuropathies: the modified Rasch-built fatigue severity scale
    Sonja 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...
  26. ncbi [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...
  27. doi Electrical spinal cord stimulation in painful diabetic polyneuropathy, a systematic review on treatment efficacy and safety
    Wouter A Pluijms
    Department of Anaesthesiology, Maastricht University Medical Centre, Maastricht, The Netherlands
    Eur J Pain 15:783-8. 2011
    ..Therefore other treatment modalities should be considered, including spinal cord stimulation. We performed a systematic review to evaluate treatment efficacy and safety of spinal cord stimulation in painful diabetic polyneuropathy...
  28. doi Outcome measures in immune-mediated neuropathies: the need to standardize their use and to understand the clinimetric essentials
    Sonja 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
    ....