Catharina G Faber

Summary

Country: The Netherlands

Publications

  1. 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
  2. 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
  3. 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
  4. doi request reprint 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
  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 request reprint 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. ncbi request reprint 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 request reprint 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 request reprint 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

Publications23

  1. 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...
  2. 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...
  3. 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...
  4. doi request reprint 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...
  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 request reprint 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...
  7. ncbi request reprint 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
    ..Conclusions: SFN leads to a reduction in overall QOL. The presence of pain and some autonomic symptoms explained only a small portion of the findings. Muscle Nerve 49:329-336, 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
    ..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 request reprint 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 request reprint 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 request reprint 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 request reprint 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. 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...
  14. doi request reprint 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...
  15. ncbi request reprint [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...
  16. ncbi request reprint 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...
  17. doi request reprint 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...
  18. doi request reprint 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...
  19. ncbi request reprint 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)...
  20. doi request reprint 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...
  21. ncbi request reprint [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...
  22. doi request reprint 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
    ..Subsequently, data were recruited on the efficacy and safety of spinal cord stimulation in this disorder...
  23. doi request reprint 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
    ....