B G M van Engelen

Summary

Affiliation: Radboud University Nijmegen Medical Centre
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 Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy
    Vered Raz
    Center for Human and Clinical Genetics, Leiden University Medical Center, Einthovenweg 20, Leiden, The Netherlands
    BMC Neurol 13:70. 2013
  4. pmc Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients
    Seyed Yahya Anvar
    Center for Human and Clinical Genetics, Leiden University Medical Center, P, O, Box 9600, 2300 RC Leiden, The Netherlands
    Skelet Muscle 1:15. 2011
  5. pmc Effects of shared medical appointments on quality of life and cost-effectiveness for patients with a chronic neuromuscular disease. Study protocol of a randomized controlled trial
    Femke M Seesing
    Department of Neurology, Radboud University Nijmegen Medical Center, Reinier Postlaan 4, Nijmegen, The Netherlands
    BMC Neurol 11:106. 2011
  6. pmc Living with myotonic dystrophy; what can be learned from couples? A qualitative study
    Edith H C Cup
    Nijmegen Centre for Evidence Based Practice, Department of Rehabilitation Occupational Therapy 898, Radboud University Nijmegen Medical Centre, P, O, Box 9101, 6500 HB, Nijmegen, The Netherlands
    BMC Neurol 11:86. 2011
  7. pmc Causes and consequences of cerebral small vessel disease. The RUN DMC study: a prospective cohort study. Study rationale and protocol
    Anouk Gw van Norden
    Donders Institute for Brain, Cognition and Behaviour, Centre for Neuroscience, Department of Neurology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    BMC Neurol 11:29. 2011
  8. pmc Effect of aerobic exercise training and cognitive behavioural therapy on reduction of chronic fatigue in patients with facioscapulohumeral dystrophy: protocol of the FACTS-2-FSHD trial
    Nicoline B M Voet
    Nijmegen Centre for Evidence Based Practice Department of Rehabilitation, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    BMC Neurol 10:56. 2010
  9. ncbi request reprint [The silent yet successful revolution of mechanical ventilation in patients with neuromuscular disorders, in particular Duchenne muscular dystrophy]
    B G M van Engelen
    Universitair Medisch Centrum St Radboud, Neuromusculair Centrum, Instituut voor Neurologie, HP 935, Postbus 9101, 6500 HB Nijmegen
    Ned Tijdschr Geneeskd 151:1817-8. 2007
  10. ncbi request reprint The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene
    B G M van Engelen
    Neuromuscular Centre, Nijmegen Institute of Neurology and Department of Pathology, University Medical Centre Nijmegen, 6500 HB Nijmegen, The Netherlands
    Neurology 64:374-6. 2005

Detail Information

Publications72

  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 Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy
    Vered Raz
    Center for Human and Clinical Genetics, Leiden University Medical Center, Einthovenweg 20, Leiden, The Netherlands
    BMC Neurol 13:70. 2013
    ..OPMD is characterized by fibrosis in skeletal muscles but the causative molecular mechanisms are not fully understood...
  4. pmc Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients
    Seyed Yahya Anvar
    Center for Human and Clinical Genetics, Leiden University Medical Center, P, O, Box 9600, 2300 RC Leiden, The Netherlands
    Skelet Muscle 1:15. 2011
    ..We suggest that the natural decrease in proteasome expression and its activity during muscle aging contributes to the onset of the disease...
  5. pmc Effects of shared medical appointments on quality of life and cost-effectiveness for patients with a chronic neuromuscular disease. Study protocol of a randomized controlled trial
    Femke M Seesing
    Department of Neurology, Radboud University Nijmegen Medical Center, Reinier Postlaan 4, Nijmegen, The Netherlands
    BMC Neurol 11:106. 2011
    ..The currently problem-focused one-to-one out-patient visits often leave little time for the patient's psychosocial needs, patient education, and patient empowerment...
  6. pmc Living with myotonic dystrophy; what can be learned from couples? A qualitative study
    Edith H C Cup
    Nijmegen Centre for Evidence Based Practice, Department of Rehabilitation Occupational Therapy 898, Radboud University Nijmegen Medical Centre, P, O, Box 9101, 6500 HB, Nijmegen, The Netherlands
    BMC Neurol 11:86. 2011
    ..To better match health care to their problems, concerns and needs, it is important to understand their perspective of living with this hereditary, systemic disease...
  7. pmc Causes and consequences of cerebral small vessel disease. The RUN DMC study: a prospective cohort study. Study rationale and protocol
    Anouk Gw van Norden
    Donders Institute for Brain, Cognition and Behaviour, Centre for Neuroscience, Department of Neurology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    BMC Neurol 11:29. 2011
    ..Diffusion tensor imaging (DTI) provides alternative information on microstructural white matter integrity. The association between SVD, its microstructural integrity, and incident dementia and parkinsonism has never been investigated...
  8. pmc Effect of aerobic exercise training and cognitive behavioural therapy on reduction of chronic fatigue in patients with facioscapulohumeral dystrophy: protocol of the FACTS-2-FSHD trial
    Nicoline B M Voet
    Nijmegen Centre for Evidence Based Practice Department of Rehabilitation, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    BMC Neurol 10:56. 2010
    ..Additionally, possible working mechanisms and the effects on various secondary outcome measures at all levels of the International Classification of Functioning, Disability and Health (ICF) are evaluated...
  9. ncbi request reprint [The silent yet successful revolution of mechanical ventilation in patients with neuromuscular disorders, in particular Duchenne muscular dystrophy]
    B G M van Engelen
    Universitair Medisch Centrum St Radboud, Neuromusculair Centrum, Instituut voor Neurologie, HP 935, Postbus 9101, 6500 HB Nijmegen
    Ned Tijdschr Geneeskd 151:1817-8. 2007
    ..These data are in line with reports from Great Britain. The significant impact of ventilatory support on the natural history of various neuromuscular disorders with respiratory insufficiency is a major breakthrough...
  10. ncbi request reprint The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene
    B G M van Engelen
    Neuromuscular Centre, Nijmegen Institute of Neurology and Department of Pathology, University Medical Centre Nijmegen, 6500 HB Nijmegen, The Netherlands
    Neurology 64:374-6. 2005
    ..At the heterozygous state the nonsense mutation leads to a classic LGMD1B phenotype; the homozygous LMNA nonsense mutation causes a lethal phenotype...
  11. ncbi request reprint The Dutch neuromuscular database CRAMP (Computer Registry of All Myopathies and Polyneuropathies): development and preliminary data
    B G M van Engelen
    Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Neuromuscul Disord 17:33-7. 2007
    ..More than 10,000 patients with neuromuscular diseases (4,837 female, 5,476 male) have been registered since 2004, half of whom (n=5059) have peripheral nerve disorders...
  12. ncbi request reprint 123rd ENMC International Workshop: management and therapy in myotonic dystrophy, 6-8 February 2004, Naarden, The Netherlands
    Baziel G M van Engelen
    Neuromuscular Centre Nijmegen, Institute of Neurology, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Neuromuscul Disord 15:389-94. 2005
  13. ncbi request reprint A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions
    I M P Gommans
    Neuromuscular Centre, Nijmegen Institute of Neurology, University Medical Center Nijmegen, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Brain 126:1545-51. 2003
    ..The novel phenotype of nemaline myopathy in the two presented families corresponds to an also novel, as yet uncharacterized, genotype...
  14. pmc Anti-signal recognition particle autoantibodies: marker of a necrotising myopathy
    G J D Hengstman
    Department of Neurology, Neuromuscular Centre Nijmegen, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Ann Rheum Dis 65:1635-8. 2006
    ..To elucidate the clinical importance of the anti-signal recognition particle (SRP) autoantibody in patients with myositis...
  15. doi request reprint Redefining the clinical phenotypes of non-dystrophic myotonic syndromes
    J Trip
    Maastricht University Medical Centre, Department of Neurology, PO Box 5800, 6202 AZ Maastricht, The Netherlands
    J Neurol Neurosurg Psychiatry 80:647-52. 2009
    ..To redefine phenotypical characteristics for both chloride (ClCh) and sodium channelopathies (NaCh) in non-dystrophic myotonic syndromes (NDM)...
  16. ncbi request reprint Experienced and physiological fatigue in neuromuscular disorders
    M L Schillings
    Department of Clinical Neurophysiology, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Clin Neurophysiol 118:292-300. 2007
    ..It might be caused both by changes at the peripheral and at the central level. This study measured the level of experienced fatigue and physiological correlates of fatigue in three genetically defined neuromuscular disorders...
  17. ncbi request reprint Phenotype of Charcot-Marie-Tooth disease Type 2
    H M E Bienfait
    Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands
    Neurology 68:1658-67. 2007
    ..To investigate the clinical and electrophysiologic phenotype of Charcot-Marie-Tooth disease (CMT) Type 2 in a large number of affected families...
  18. doi request reprint Muscle ultrasound measurements and functional muscle parameters in non-dystrophic myotonias suggest structural muscle changes
    J Trip
    Department of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands
    Neuromuscul Disord 19:462-7. 2009
    ..22; p=0.05). The echo intensity of the forearm flexors was inversely correlated to their muscles' force (r= -0.30; p=0.02). Together, these data suggest that non-dystrophic myotonias may lead to structural muscle changes...
  19. ncbi request reprint Diminished central activation during maximal voluntary contraction in chronic fatigue syndrome
    M L Schillings
    Department of Clinical Neurophysiology, University Medical Centre Nijmegen, Internal postal code 314, P O Box 9101, 6500 HB Nijmegen, Netherlands
    Clin Neurophysiol 115:2518-24. 2004
    ..We have investigated whether central activation failure (CAF) is increased during local muscle fatigue in chronic fatigue syndrome (CFS)...
  20. doi request reprint Open-label trial of anti-TNF-alpha in dermato- and polymyositis treated concomitantly with methotrexate
    G J D Hengstman
    Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur Neurol 59:159-63. 2008
    ..To determine the efficacy of infliximab combined with weekly methotrexate in drug-naive recent-onset dermatomyositis and polymyositis...
  21. doi request reprint Speech pathology interventions in patients with neuromuscular diseases: a systematic review
    S Knuijt
    Research Centre for Allied Health Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Folia Phoniatr Logop 63:15-20. 2011
    ..A systematic review was conducted to summarize and evaluate the literature on the effectiveness of speech pathology interventions in adults with neuromuscular diseases...
  22. ncbi request reprint Treatment of dermatomyositis and polymyositis with anti-tumor necrosis factor-alpha: long-term follow-up
    G J D Hengstman
    Neuromuscular Center Nijmegen, Institute of Neurology, University Medical Center Nijmegen, PO Box 9101, NL 6500 HB Nijmegen, The Netherlands
    Eur Neurol 52:61-3. 2004
  23. doi request reprint Dysphagia is present but mild in myotonic dystrophy type 2
    A A Tieleman
    Neuromuscular Center Nijmegen, Department of Neurology, Radboud University, Nijmegen Medical Center, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    Neuromuscul Disord 19:196-8. 2009
    ..Dysphagia is present among DM2 patients and is more severe in older patients. However, dysphagia is generally mild, and do not lead to weight loss, or aspiration pneumonia...
  24. 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...
  25. doi request reprint Epidemiology and pathophysiology of falls in facioscapulohumeral disease
    C G C Horlings
    Department of Neurology, Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands
    J Neurol Neurosurg Psychiatry 80:1357-63. 2009
    ..Here falls in patients with facioscapulohumeral disease (FSHD) who suffered from lower limb muscle weakness were examined. This study provides insights into the prevalence, relevance and pathophysiology of falls in FSHD...
  26. pmc Effects of training and albuterol on pain and fatigue in facioscapulohumeral muscular dystrophy
    E L van der Kooi
    Neuromuscular Center Nijmegen, Radboud University Nijmegen Medical Center, 6500 HB Nijmegen, The Netherlands
    J Neurol 254:931-40. 2007
    ..Next, we studied the effects of albuterol and strength training on pain, experienced fatigue, health-related functional status and psychological distress...
  27. ncbi request reprint Associations with autoimmune disorders and HLA class I and II antigens in inclusion body myositis
    U A Badrising
    Department of Neurology, K5Q, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands
    Neurology 63:2396-8. 2004
    ..Patients lacked the apparently protective HLA-DR53 antigen. The results provide further support for an autoimmune basis in IBM...
  28. ncbi request reprint Central adaptations during repetitive contractions assessed by the readiness potential
    M L Schillings
    Department of Clinical Neurophysiology, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    Eur J Appl Physiol 97:521-6. 2006
    ..Because the increase of the RP does not lead to an increased force production, we propose that it is a central adaptation counteracting the decrease of cortical efficiency during repetitive contractions...
  29. ncbi request reprint Warming up improves speech production in patients with adult onset myotonic dystrophy
    B J M de Swart
    Neuromuscular Centre Nijmegen, Institute of Neurology, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    J Commun Disord 40:185-95. 2007
    ..3. Warming up is a valuable intervention because it improves the velocity and fluency of speech production without aggravating the signs of flaccid dysarthria...
  30. pmc Health status in non-dystrophic myotonias: close relation with pain and fatigue
    J Trip
    Department of Neurology, Maastricht University Medical Centre, P O Box 5800, 6202 AZ, Maastricht, The Netherlands
    J Neurol 256:939-47. 2009
    ..The impact of NDM on the physical domains of patients' health status is substantial, and particularly painful myotonia and fatigue tend to impede their physical functioning...
  31. ncbi request reprint Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia
    J A P Hiel
    Department of Neurology, Maxima Medical Centre, Veldhoven, The Netherlands
    Neurology 67:346-9. 2006
    ..ATM activity, as measured by phosphorylation of p53, was close to normal, indicating that the p53 response is not the only factor in preventing neural damage in anterior horn cells in AT...
  32. ncbi request reprint Relation between muscle fiber conduction velocity and fiber size in neuromuscular disorders
    P J Blijham
    Department of Clinical Neurophysiology, Institute of Neurology 920, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    J Appl Physiol 100:1837-41. 2006
    ..A linear equation expresses the relation well: MFCV (m/s)=0.043.MFD (microm)+0.83. We conclude that fiber diameter determines MFCV largely independent of the underlying neuromuscular disorders studied...
  33. ncbi request reprint A new phenotype of autosomal dominant nemaline myopathy
    I M P Gommans
    Neuromuscular Centre Nijmegen, Institute of Neurology, University Medical Centre Nijmegen, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Neuromuscul Disord 12:13-8. 2002
    ..The most remarkable clinical feature was a peculiar kind of slowness in movement not reported previously in nemaline myopathy...
  34. doi request reprint Skeletal muscle involvement in myotonic dystrophy type 2. A comparative muscle ultrasound study
    A A Tieleman
    Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Neuromuscul Disord 22:492-9. 2012
    ..36, p=0.048). We conclude that all tested muscles are affected and structurally abnormal in DM2 patients. Proximal arm muscles are more affected in DM2 compared to DM1, which corresponds to clinical findings...
  35. pmc Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity
    B M van der Sluijs
    Neuromuscular Centre Nijmegen, Institute of Neurology University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    J Neurol Neurosurg Psychiatry 75:1499-501. 2004
    ..From this we conclude that AR oculopharyngodistal myopathy is a distinct phenotypical, histological, and genetic entity...
  36. pmc Histology of hereditary neuralgic amyotrophy
    N van Alfen
    Neuromuscular Centre Nijmegen, Institute of Neurology, 314 University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    J Neurol Neurosurg Psychiatry 76:445-7. 2005
    ....
  37. ncbi request reprint No effect of folic acid and methionine supplementation on D4Z4 methylation in patients with facioscapulohumeral muscular dystrophy
    E L van der Kooi
    Neuromuscular Centre Nijmegen, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Neuromuscul Disord 16:766-9. 2006
    ..Methylation levels did not change, while recommended serum-folate concentrations were reached...
  38. doi request reprint Strong association between myotonic dystrophy type 2 and autoimmune diseases
    A A Tieleman
    Neuromuscular Centre Nijmegen, Department of Neurology 935, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
    J Neurol Neurosurg Psychiatry 80:1293-5. 2009
    ..Our clinical impression of an association between DM2 and autoimmune diseases or autoantibody formation has not been published previously...
  39. doi request reprint New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype
    C C S Delnooz
    Radboud University Nijmegen Medical Centre, Department of Neurology 935, Nijmegen 6500 HB, The Netherlands
    J Neurol Neurosurg Psychiatry 81:968-72. 2010
    ..1514G-->A. In patients with either progressive cerebellar ataxia or LMN disease in the setting of a possibly recessive disorder, Sandhoff disease should be suspected, even when the onset age is over 45 years...
  40. pmc Clinical characteristics of patients with myositis and autoantibodies to different fragments of the Mi-2 beta antigen
    G J D Hengstman
    Neuromuscular Centre Nijmegen, Department of Neurology, University Medical Centre Nijmegen, PO Box 9101, Internal Code 935, 6500 HB Nijmegen, The Netherlands
    Ann Rheum Dis 65:242-5. 2006
    ..To assess the clinical implications of autoantibodies directed against different parts of the Mi-2 beta autoantigen in patients with myositis...
  41. ncbi request reprint The epidemiology of the Lambert-Eaton myasthenic syndrome in the Netherlands
    P W Wirtz
    Department of Neurology, Leiden University Medical Center, P O Box 9600, 2300 RC Leiden, The Netherlands
    Neurology 63:397-8. 2004
  42. doi request reprint Evaluation of prednisolone treatment in the acute phase of neuralgic amyotrophy: an observational study
    J J J van Eijk
    Department of Neurology, Neuromuscular Centre Nijmegen, Donders Centre for Neuroscience, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Neurol Neurosurg Psychiatry 80:1120-4. 2009
    ..Given the circumstantial evidence of a beneficial effect of prednisolone on pain and paresis, this report evaluates the effects of prednisolone treatment administered in the acute phase in a retrospective case series of 50 NA patients...
  43. ncbi request reprint Ptosis as a feature of late-onset glycogenosis type II
    W B Groen
    Department of Neurology, Neuromuscular Center Nijmegen, The Netherlands
    Neurology 67:2261-2. 2006
  44. ncbi request reprint High specificity of myositis specific autoantibodies for myositis compared with other neuromuscular disorders
    G J D Hengstman
    Neuromuscular Centre Nijmegen, Dept of Neurology, University Medical Centre Nijmegen, 9101, 6500 HB, Nijmegen, The Netherlands
    J Neurol 252:534-7. 2005
    ..None of the FSHD patients tested positive. We conclude that the tested MSAs are highly specific for myositis and that they are not merely associated with muscle inflammation...
  45. doi request reprint Trunk sway analysis to quantify the warm-up phenomenon in myotonia congenita patients
    C G C Horlings
    Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, The Netherlands
    J Neurol Neurosurg Psychiatry 80:207-12. 2009
    ..A new approach is presented to quantify this warm-up phenomenon under clinically relevant gait and balance tasks...
  46. ncbi request reprint Optimizing referral of patients with neuromuscular disorders to allied health care
    A J Pieterse
    Research Centre for Allied Health Sciences, Institute for Neurology, Radboud University, NijmegenMedical Centre, The Netherlands
    Eur J Neurol 16:562-8. 2009
    ....
  47. ncbi request reprint Psychiatric disorders appear equally in patients with myotonic dystrophy, facioscapulohumeral dystrophy, and hereditary motor and sensory neuropathy type I
    J S Kalkman
    Expert Centre Chronic Fatigue, Radboud University Nijmingen Medical Centre, The Netherlands
    Acta Neurol Scand 115:265-70. 2007
    ....
  48. pmc Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I
    J S Kalkman
    Expert Centre Chronic Fatigue, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
    J Neurol Neurosurg Psychiatry 76:1406-9. 2005
    ..To assess the prevalence of severe fatigue and its relation to functional impairment in daily life in patients with relatively common types of neuromuscular disorders...
  49. pmc Diagnostic value of MHC class I staining in idiopathic inflammatory myopathies
    J van der Pas
    Neuromuscular Centre, Institute of Neurology, University Medical Centre, Nijmegen, Netherlands
    J Neurol Neurosurg Psychiatry 75:136-9. 2004
    ..Identification of mononuclear cellular infiltrates in skeletal muscle tissue is the histological cornerstone of the diagnosis of idiopathic inflammatory myopathy (IIM). However, these infiltrates are not always present...
  50. pmc Ptosis aggravates dysphagia in oculopharyngeal muscular dystrophy
    B J M de Swart
    304 Neuromuscular Centre Nijmegen, Institute of Neurology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    J Neurol Neurosurg Psychiatry 77:266-8. 2006
    ..Ptosis and dysphagia are important features in oculopharyngeal muscular dystrophy (OPMD)...
  51. ncbi request reprint [Mitochondrial diseases; thinking beyond organ specialism necessary]
    B W Smits
    Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen
    Ned Tijdschr Geneeskd 152:2275-81. 2008
    ..Since much research effort is currently being invested in the development of causal medical treatments, the importance of an early diagnosis is likely to become of increasing importance in the future...
  52. ncbi request reprint Clinical neurophysiology of fatigue
    M J Zwarts
    University Medical Centre Nijmegen, Institute of Neurology, 920 Department of Clinical Neurophysiology, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Clin Neurophysiol 119:2-10. 2008
    ..The present report discusses the different manifestations of fatigue and the available tools to assess peripheral and central fatigue...
  53. ncbi request reprint Calcium regulation and muscle disease
    I M P Gommans
    Institute for Fundamental and Clinical Human Movement Sciences, Neuromuscular Centre Nijmegen, The Netherlands
    J Muscle Res Cell Motil 23:59-63. 2002
    ..Information of Ca2+-kinetics in these inherited muscular diseases improves our understanding of the role of calcium in the physiology and pathophysiology of the skeletal muscle cell...
  54. ncbi request reprint Successful treatment of dermatomyositis and polymyositis with anti-tumor-necrosis-factor-alpha: preliminary observations
    G J D Hengstman
    Neuromuscular Centre Nijmegen, Institute of Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Eur Neurol 50:10-5. 2003
    ..These preliminary results suggest that anti-TNF-alpha treatment with infliximab is a safe and rapidly effective therapy for myositis...
  55. ncbi request reprint Proteomics and neuromuscular diseases: theoretical concept and first results
    L P van den Heuvel
    University Medical Center Nijmegen, Laboratory for Pediatrics and Neurology, Department of Pediatrics, Geert Grooteplein 20, 6500 HB Nijmegen, The Netherlands
    Ann Clin Biochem 40:9-15. 2003
    ..Potentially, this new technique is capable of identifying novel mitochondrial diseases and defining their molecular basis...
  56. ncbi request reprint Nijmegen breakage syndrome: a neuropathological study
    M Lammens
    Department of Pathology, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Neuropediatrics 34:189-93. 2003
    ..The severe diminishment of neocortical neurones suggests an important role for the NBS1 gene in corticogenesis in man, as suggested earlier in animal studies of other DNA-repair genes...
  57. ncbi request reprint [Fatigue in neuromuscular disease]
    B G M van Engelen
    Neuromusculair Centrum Nijmegen, Instituut voor Neurologie, Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen
    Ned Tijdschr Geneeskd 148:1336-41. 2004
    ....
  58. ncbi request reprint Sensorineural hearing impairment in patients with Pmp22 duplication, deletion, and frameshift mutations
    W I M Verhagen
    Department of Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands
    Otol Neurotol 26:405-14. 2005
    ....
  59. pmc Myotonia and flaccid dysarthria in patients with adult onset myotonic dystrophy
    B J M de Swart
    Neuromuscular Centre Nijmegen, Institute of Neurology, University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, Netherlands
    J Neurol Neurosurg Psychiatry 75:1480-2. 2004
    ..Myotonia and weakness are the most important components of dysarthric speech in myotonic dystrophy...
  60. ncbi request reprint Transient cerebral white matter lesions in a patient with connexin 32 missense mutation
    H J Schelhaas
    Neuromuscular Center Nijmegen, Institute of Neurology, University Medical Center, Nijmegen, The Netherlands
    Neurology 59:2007-8. 2002
  61. ncbi request reprint Muscle function during repetitive moderate-intensity muscle contractions in myoadenylate deaminase-deficient Dutch subjects
    C J de Ruiter
    Institute for Fundamental and Clinical Human Movement Sciences, Vrije Universiteit, Van der Boechorststraat 9, 1081 BT Amsterdam, The Netherlands
    Clin Sci (Lond) 102:531-9. 2002
    ....
  62. pmc Difference in distribution of muscle weakness between myasthenia gravis and the Lambert-Eaton myasthenic syndrome
    P W Wirtz
    Department of Neurology, Leiden University Medical Centre, Leiden, Netherlands
    J Neurol Neurosurg Psychiatry 73:766-8. 2002
    ..Myasthenia gravis and the Lambert-Eaton myasthenic syndrome (LEMS) may have a similar distribution of muscle weakness. Deciding on a diagnosis of myasthenia gravis or LEMS on clinical grounds may therefore be difficult...
  63. ncbi request reprint [The practice guideline 'Dermatomyositis, polymyositis and sporadic inclusion body myositis']
    J E Hoogendijk
    Universitair Medisch Centrum Utrecht, Utrecht
    Ned Tijdschr Geneeskd 149:2104-11. 2005
    ..Physical activity does not have a negative effect on the course of these diseases. The long-term prognosis ofdermatomyositis and polymyositis is not well known. The clinical course of sIBM is slowly progressive...
  64. ncbi request reprint Skeletal muscle of mice with a mutation in slow alpha-tropomyosin is weaker at lower lengths
    A de Haan
    Institute for Fundamental and Clinical Human Movement Sciences, Faculty of Human Movement Sciences, Vrije University, Van der Boechorststraat 9, 1081 BT, Amsterdam, The Netherlands
    Neuromuscul Disord 12:952-7. 2002
    ..As the muscles are active over a large range of different muscle lengths during daily activities, this finding may explain, at least in part, the muscle weakness experienced by patients with nemaline myopathy...
  65. ncbi request reprint [The spectrum of hereditary skeletal-muscle channelopathies]
    J Trip
    Academisch Ziekenhuis Maastricht, Neuromusculair Centrum, afd Neurologie, Postbus 5800, 6202 AZ Maastricht
    Ned Tijdschr Geneeskd 149:2093-8. 2005
    ..It is difficult to classify hereditary muscle channelopathies on the basis of clinical criteria only. A more reliable diagnosis is made using DNA analysis. Scientific research should focus on genotype-phenotype relationships...
  66. ncbi request reprint Less is more: treatment of aggravating behaviour in myasthenia gravis patients with dysphagia
    B J M de Swart
    Eur J Neurol 9:688-9. 2002
  67. pmc Warm-up phenomenon in myotonia associated with the V445M sodium channel mutation
    J Trip
    J Neurol 254:257-8. 2007
  68. ncbi request reprint 99th ENMC international workshop: myotonic dystrophy: present management, future therapy. 9-11 November 2001, Naarden, The Netherlands
    P S Harper
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK
    Neuromuscul Disord 12:596-9. 2002
  69. ncbi request reprint Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy
    S van Koningsbruggen
    Center for Human and Clinical Genetics, Leiden University Medical Center, 2333 AL, Leiden, The Netherlands
    J Immunol Methods 279:149-61. 2003
    ..Our results suggest that phage display derived heavy-chain antibodies can be used in proteomics to study the localization and function of hypothetical gene products, relevant to human disease...
  70. pmc Muscle tissue oxygenation as a functional tool in the follow up of dermatomyositis
    M C P van Beekvelt
    J Neurol Neurosurg Psychiatry 73:93-4. 2002
  71. ncbi request reprint Effects of IV glucose and oral medium-chain triglyceride in patients with VLCAD deficiency
    M C ├śrngreen
    Neuromuscular Research Unit, The Copenhagen Muscle Research Center and the Department of Neurology, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Neurology 69:313-5. 2007
  72. ncbi request reprint Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease
    M A Martin
    Centro de Investigacion, Hospital Universitario 12 de Octubre, Madrid, Spain
    Ann Hum Genet 68:17-22. 2004
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