N C Voermans

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. doi request reprint Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos Syndrome
    Nicol C Voermans
    Neuromuscular Centre Nijmegen, Department of Neurology, Nijmegen, The Netherlands
    Semin Arthritis Rheum 40:267-74. 2010
  2. doi request reprint Neuromuscular features in Marfan syndrome
    N C Voermans
    Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Centre, 6500 HBNijmegen, The Netherlands
    Clin Genet 76:25-37. 2009
  3. doi request reprint Congenital myopathy with focal loss of cross-striations revisited
    N C Voermans
    Department of Neurology, Radboud University Nijmegen Medical Centre, The Netherlands
    Neuromuscul Disord 23:160-4. 2013
  4. doi request reprint Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients
    N C Voermans
    Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Centre, The Netherlands
    Neuromuscul Disord 22:944-54. 2012
  5. doi request reprint Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation
    N C Voermans
    Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 158:850-5. 2012
  6. ncbi request reprint [Clinical reasoning and decision making in practice. A 23 year old woman with malaise, anorexia, fever and behavior changes]
    N C Voermans
    Universitair Medisch Centrum St Radboud, afd Neurologie, Postbus 9101, 6500 HB Nijmegen
    Ned Tijdschr Geneeskd 148:1079-86. 2004
  7. doi request reprint Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies
    N C Voermans
    Neuromuscular Centre Nijmegen, Dept of Neurology, 935, Radboud University Nijmegen Medical Centre, 9101, 6500 HB Nijmegen, The Netherlands
    J Neurol 256:13-27. 2009
  8. doi request reprint Neuromuscular involvement in various types of Ehlers-Danlos syndrome
    Nicol C Voermans
    Department of Neurology, Neuromuscular Centre Nijmegen, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Ann Neurol 65:687-97. 2009
  9. doi request reprint Radicular dysfunction due to spinal deformities in Marfan syndrome at older age: three case reports
    N C Voermans
    Donders Centre for Neuroscience, Department of Neurology, Radboud University Nijmegen Medical Centre, The Netherlands
    Eur J Med Genet 53:35-9. 2010
  10. doi request reprint Postural headache in marfan syndrome associated with spinal cysts and liquor hypotension
    N C Voermans
    Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Neuropediatrics 40:201-4. 2009

Detail Information

Publications33

  1. doi request reprint Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos Syndrome
    Nicol C Voermans
    Neuromuscular Centre Nijmegen, Department of Neurology, Nijmegen, The Netherlands
    Semin Arthritis Rheum 40:267-74. 2010
    ..Fatigue and musculoskeletal pain are associated features but have never been studied systematically. We used a multidimensional assessment method to measure fatigue, its clinical relevance, and possible determinants...
  2. doi request reprint Neuromuscular features in Marfan syndrome
    N C Voermans
    Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Centre, 6500 HBNijmegen, The Netherlands
    Clin Genet 76:25-37. 2009
    ..Although meriting corroboration, these findings indicate a need to further the awareness of neuromuscular involvement in this population...
  3. doi request reprint Congenital myopathy with focal loss of cross-striations revisited
    N C Voermans
    Department of Neurology, Radboud University Nijmegen Medical Centre, The Netherlands
    Neuromuscul Disord 23:160-4. 2013
    ..10627-2A>G and p.Arg3539His (c.10616G>A). Focal loss of cross-striations on muscle biopsy is another histopathological feature that should raise the possibility of RYR1 involvement...
  4. doi request reprint Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients
    N C Voermans
    Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Centre, The Netherlands
    Neuromuscul Disord 22:944-54. 2012
    ..Future research should focus on the possible mechanisms of reduction of SERCA activity in Brody syndrome and other genetic causes, and on evaluation of treatment options...
  5. doi request reprint Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation
    N C Voermans
    Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 158:850-5. 2012
    ..Findings of muscle ultrasound, electromyography, and muscle biopsy pointed to a myopathy, similarly as in other EDS types. This myopathy probably contributes to the gross motor developmental delay in this type of EDS...
  6. ncbi request reprint [Clinical reasoning and decision making in practice. A 23 year old woman with malaise, anorexia, fever and behavior changes]
    N C Voermans
    Universitair Medisch Centrum St Radboud, afd Neurologie, Postbus 9101, 6500 HB Nijmegen
    Ned Tijdschr Geneeskd 148:1079-86. 2004
    ..Secondly, if intracranial haemorrhage has occurred in patients with infective endocarditis, therapeutic options should always be discussed with a neurosurgeon, even in those cases where the probability of a mycotic aneurysm is low...
  7. doi request reprint Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies
    N C Voermans
    Neuromuscular Centre Nijmegen, Dept of Neurology, 935, Radboud University Nijmegen Medical Centre, 9101, 6500 HB Nijmegen, The Netherlands
    J Neurol 256:13-27. 2009
    ..Hopefully, this review will contribute to enhanced recognition of joint hypermobility and thus be of aid in differential diagnosis...
  8. doi request reprint Neuromuscular involvement in various types of Ehlers-Danlos syndrome
    Nicol C Voermans
    Department of Neurology, Neuromuscular Centre Nijmegen, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Ann Neurol 65:687-97. 2009
    ..We designed a cross-sectional study to find out whether neuromuscular features are part of EDS...
  9. doi request reprint Radicular dysfunction due to spinal deformities in Marfan syndrome at older age: three case reports
    N C Voermans
    Donders Centre for Neuroscience, Department of Neurology, Radboud University Nijmegen Medical Centre, The Netherlands
    Eur J Med Genet 53:35-9. 2010
    ..Marfan syndrome might gradually become recognized as an inherited connective tissue disorder with potentially severe neurological complications during ageing...
  10. doi request reprint Postural headache in marfan syndrome associated with spinal cysts and liquor hypotension
    N C Voermans
    Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Neuropediatrics 40:201-4. 2009
    ..Surgical marsupialisation of the intradural cysts proved to be effective. This resulted in a significant reduction of the headache during the clinical follow-up of eight years...
  11. pmc Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy
    N C Voermans
    Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Clin Neuropathol 29:71-7. 2010
    ..1295delA; p.K432RfsX17) leading to a premature stopcodon. These findings confirmed the diagnosis of HIBM on the histological, molecular and biochemical level...
  12. doi request reprint Pain in ehlers-danlos syndrome is common, severe, and associated with functional impairment
    Nicol C Voermans
    Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Pain Symptom Manage 40:370-8. 2010
    ..Musculoskeletal pain is mentioned in the diagnostic criteria and described as early in onset, chronic, and debilitating. However, systematic research on pain in EDS is scarce...
  13. doi request reprint Mild muscular features in tenascin-X knockout mice, a model of Ehlers-danlos syndrome
    N C Voermans
    Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, The Netherlands
    Connect Tissue Res 52:422-32. 2011
    ..Therefore, this study aims to define the muscular phenotype of TNX knockout (KO) mice...
  14. doi request reprint Fatigue is associated with muscle weakness in Ehlers-Danlos syndrome: an explorative study
    N C Voermans
    Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Physiotherapy 97:170-4. 2011
    ..Furthermore, the predictive value of muscle weakness for fatigue severity was determined, together with that of pain and physical activity...
  15. doi request reprint Thought ripples on muscle waves: recognition of rippling muscle disease
    N C Voermans
    Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Centre, Nigmegen, The Netherlands
    Neuropediatrics 39:116-8. 2008
    ..It also indicates that typical RMD phenomena are not easily acknowledged among paediatricians or neurologists. We therefore present an overview of these clinical characteristics of rippling muscle disease RMD...
  16. ncbi request reprint Secondary parkinsonism in childhood: A rare complication after radiotherapy
    Nicol C Voermans
    Department of Neurology, Radboud University Nijmegen Medical Centre, The Netherlands
    Pediatr Neurol 34:495-8. 2006
    ..We suggest that focal encephalopathy resulting from postradiation edema secondary to microangiopathy led to dysfunction of the globus pallidus and thalamus...
  17. ncbi request reprint Pediatric median neuropathy due to pruritus in Alagille syndrome
    Nicol C Voermans
    Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Pediatr Neurol 35:216-9. 2006
    ..To our knowledge, median neuropathy has never been associated with Alagille syndrome, although severe pruritus is considered a major symptom and many patients exhibit widespread scratching and rubbing...
  18. ncbi request reprint Dissociated small hand muscle atrophy in aging: the 'senile hand' is a split hand
    N C Voermans
    Neuromuscular Centre Nijmegen, Institute of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Neurol 13:1381-4. 2006
    ..In addition, a difference in intrinsic susceptibility to oxidative stress might be involved. The relation between normal age-related muscle loss (sarcopenia) and the pathologic loss in motor neuron disease is discussed...
  19. ncbi request reprint Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency
    Nicol C Voermans
    Neuromuscular Center Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Center, The Netherlands
    Am J Med 119:176-9. 2006
  20. ncbi request reprint The effect of dantrolene sodium in Very Long Chain Acyl-CoA Dehydrogenase Deficiency
    N C Voermans
    Neuromuscular Center Nijmegen, Department of Neurology, 935 Radboud University Nijmegen Medical Center, P O Box 9101, The Netherlands
    Neuromuscul Disord 15:844-6. 2005
    ..We discuss the therapeutic mechanism of dantrolene sodium and its possible role as additional treatment modality for patients with VLCAD deficiency...
  21. ncbi request reprint Reduced quantitative muscle function in tenascin-X deficient Ehlers-Danlos patients
    N C Voermans
    Neuromuscular Centre Nijmegen, Department of Neurology, 935, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Neuromuscul Disord 17:597-602. 2007
    ..These findings dispute the interpretation of increased tendon distensibility. We hypothesize that alterations in the extracellular matrix modify myofascial force transmission and thus influence muscle function in EDS...
  22. doi request reprint Morphea profunda presenting as a neuromuscular mimic
    N C Voermans
    Departments of Neurology, Neuromuscular Centre Nijmegen, Nijmegen Medical Centre, The Netherlands
    J Clin Neuromuscul Dis 9:407-14. 2008
    ..Muscle biopsy in morphea profunda implies the risk of sampling error, whereas results of electromyography and muscle imaging might better represent the extent of muscle inflammation...
  23. ncbi request reprint Segmental overlap: foot drop in S1 radiculopathy
    N C Voermans
    Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Centre, The Netherlands
    Acta Neurochir (Wien) 148:809-13; discussion 813. 2006
    ..We describe a patient in whom overlap in segmental innervation complicated adequate diagnosis of a recurrent lumbar hernia. Further, we present an outline of electrophysiological and anatomical studies on segmental innervation...
  24. doi request reprint Clinical and molecular overlap between myopathies and inherited connective tissue diseases
    N C Voermans
    Neuromuscular Centre Nijmegen, Department of Neurology, 935, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Neuromuscul Disord 18:843-56. 2008
    ....
  25. ncbi request reprint Primary respiratory failure in inclusion body myositis
    N C Voermans
    Neuromuscular Centre Nijmegen, Department of Neurology, University Medical Centre Nijmegen, The Netherlands
    Neurology 63:2191-2. 2004
  26. doi request reprint Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant
    N C Voermans
    Neuromuscular Centre Nijmegen, Nijmegen Medical Centre, Radboud University, The Netherlands
    Neurology 71:532-4. 2008
  27. doi request reprint Balance control in patients with distal versus proximal muscle weakness
    C G C Horlings
    Department of Neurology, Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, The Netherlands
    Neuroscience 164:1876-86. 2009
    ..This observation, together with the retained ability of patients to use compensatory arm movements, provides targets that may be amenable to improvement with therapeutic intervention...
  28. doi request reprint Computer-aided visualization of muscle weakness distribution
    Allan J Pieterse
    Research Centre of Allied Health Sciences, Dept of Rehabilitation Physical Therapy code 897, Radboud University Nijmegen Medical Centre, 9101, 6500 HB Nijmegen, The Netherlands
    J Neurol 255:1670-8. 2008
    ..Moreover, the program can also be used to investigate and further refine the phenotypic description of these disorders...
  29. doi request reprint Assessment of postural asymmetry in mild to moderate Parkinson's disease
    A C H Geurts
    Department of Rehabilitation, Nijmegen Centre for Evidence Based Practice, Radboud University Nijmegen Medical Centre, The Netherlands
    Gait Posture 33:143-5. 2011
    ..It should also be further investigated whether this approach can be used as a tool to support the initial diagnosis or monitor disease progression, or as an outcome measure for interventions aimed at improving balance in PD...
  30. ncbi request reprint Why old people fall (and how to stop them)
    N C Voermans
    Department of Neurology, Radboud University Nijmegen Medical Centre, The Netherlands
    Pract Neurol 7:158-71. 2007
  31. ncbi request reprint [Epileptic seizures during childbirth in a patient with idiopathic generalised epilepsy]
    N C Voermans
    Universitair Medisch Centrum St Radboud, afd Neurologie, Postbus 9101, Nijmegen
    Ned Tijdschr Geneeskd 149:1406-11. 2005
    ..No further attacks were observed. This case history illustrates the occurrence of adult idiopathic generalised epilepsy and highlights the problems that can arise late in pregnancy and during childbirth...
  32. ncbi request reprint Caffeine and muscle cramps: a stimulating connection
    Martijn M Molema
    Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med 120:e1-2. 2007
  33. ncbi request reprint Fallacious falls
    Nicol C Voermans
    J Neurol 252:1271-3. 2005