Esther Brusse

Summary

Affiliation: Erasmus MC
Country: The Netherlands

Publications

  1. pmc Fatigue in spinocerebellar ataxia: patient self-assessment of an early and disabling symptom
    Esther Brusse
    Department of Neurology, Erasmus MC University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands
    Neurology 76:953-9. 2011
  2. ncbi request reprint Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype
    Esther Brusse
    Department of Neurology, Erasmus MC University Medical Center Rotterdam, The Netherlands
    Mov Disord 21:396-401. 2006
  3. ncbi request reprint Diagnosis and management of early- and late-onset cerebellar ataxia
    E Brusse
    Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    Clin Genet 71:12-24. 2007
  4. pmc A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
    Esther Brusse
    Department of Neurology, Erasmus MC University Medical Center, P O Box 2040, 3000 CA, Rotterdam, The Netherlands
    Neurogenetics 10:289-97. 2009
  5. pmc A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]
    John C van Swieten
    Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    Am J Hum Genet 72:191-9. 2003
  6. pmc Phenotypical variation within 22 families with Pompe disease
    Stephan C A Wens
    Department of Neurology, Erasmus MC, s Gravendijkwal 230, 3015 CE Rotterdam, The Netherlands
    Orphanet J Rare Dis 8:182. 2013
  7. pmc Increased aortic stiffness and blood pressure in non-classic Pompe disease
    Stephan C A Wens
    Department of Neurology, Erasmus University Medical Center, Mailbox 2040, 3000 CA, Rotterdam, The Netherlands
    J Inherit Metab Dis 37:391-7. 2014
  8. doi request reprint Randomised controlled trial comparing two different intravenous immunoglobulins in chronic inflammatory demyelinating polyradiculoneuropathy
    K Kuitwaard
    Department of Neurology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
    J Neurol Neurosurg Psychiatry 81:1374-9. 2010
  9. doi request reprint Elevated Plasma Cardiac Troponin T Levels Caused by Skeletal Muscle Damage in Pompe Disease
    Stephan C A Wens
    From the Department of Neurology S C A W, E B, P A v D, Center for Lysosomal and Metabolic Diseases S C A W, G J S, M E K, T J M v G, S G, J P, E B, A T v d P, P A v D, W W M P P, Molecular Stem Cell Biology, Department of Clinical Genetics G J S, T J M v G, S G, J P, W W M P P, Department of Cardiology M M, Department of Clinical Chemistry R H N v S, Erasmus MC University Medical Center, Rotterdam, The Netherlands Division of Metabolic Diseases and Genetics, Department of Pediatrics, Erasmus MC Sophia, Rotterdam, The Netherlands G J S, T J M v G, S G, J P, A T v d P, W W M P P Proteomics Center, Department of Pharmacology
    Circ Cardiovasc Genet 9:6-13. 2016
  10. pmc Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease
    Gerben J Schaaf
    Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Acta Neuropathol Commun 3:65. 2015

Collaborators

Detail Information

Publications15

  1. pmc Fatigue in spinocerebellar ataxia: patient self-assessment of an early and disabling symptom
    Esther Brusse
    Department of Neurology, Erasmus MC University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands
    Neurology 76:953-9. 2011
    ..To identify the prevalence and severity of fatigue and predicting factors for severe fatigue in autosomal dominant spinocerebellar ataxia (SCA)...
  2. ncbi request reprint Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype
    Esther Brusse
    Department of Neurology, Erasmus MC University Medical Center Rotterdam, The Netherlands
    Mov Disord 21:396-401. 2006
    ..Behavioral problems were also observed. Further investigations will have to determine the role of FGF14 in the pathogenesis of neurodegeneration and the frequency of this FGF14 mutation in SCA. (c) 2005 Movement Disorder Society...
  3. ncbi request reprint Diagnosis and management of early- and late-onset cerebellar ataxia
    E Brusse
    Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    Clin Genet 71:12-24. 2007
    ..An appropriate diagnosis is of utmost importance to such considerations as prognosis, genetic counselling and possible therapeutic implications...
  4. pmc A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
    Esther Brusse
    Department of Neurology, Erasmus MC University Medical Center, P O Box 2040, 3000 CA, Rotterdam, The Netherlands
    Neurogenetics 10:289-97. 2009
    ..These results expand the clinical spectrum of HMN and suggest a digenic inheritance of HMN in this family with a BSCL2 mutation and a chromosome 16 locus likely contributing to the phenotype...
  5. pmc A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]
    John C van Swieten
    Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    Am J Hum Genet 72:191-9. 2003
    ..The present FGF14 mutation represents a novel gene defect involved in the neurodegeneration of cerebellum and basal ganglia...
  6. pmc Phenotypical variation within 22 families with Pompe disease
    Stephan C A Wens
    Department of Neurology, Erasmus MC, s Gravendijkwal 230, 3015 CE Rotterdam, The Netherlands
    Orphanet J Rare Dis 8:182. 2013
    ..We hypothesized that siblings and families with the same genotype share more similar phenotypes than the total population of non-classic Pompe patients, and that this might reveal genotype-phenotype correlations...
  7. pmc Increased aortic stiffness and blood pressure in non-classic Pompe disease
    Stephan C A Wens
    Department of Neurology, Erasmus University Medical Center, Mailbox 2040, 3000 CA, Rotterdam, The Netherlands
    J Inherit Metab Dis 37:391-7. 2014
    ..Whether this is due to glycogen accumulation requires further investigation. To reduce the potential risk of cardiovascular diseases, we recommend that blood pressure and other common cardiovascular risk factors are monitored regularly...
  8. doi request reprint Randomised controlled trial comparing two different intravenous immunoglobulins in chronic inflammatory demyelinating polyradiculoneuropathy
    K Kuitwaard
    Department of Neurology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
    J Neurol Neurosurg Psychiatry 81:1374-9. 2010
    ..A liquid IVIg preparation is more user friendly and potentially can be infused at a faster rate...
  9. doi request reprint Elevated Plasma Cardiac Troponin T Levels Caused by Skeletal Muscle Damage in Pompe Disease
    Stephan C A Wens
    From the Department of Neurology S C A W, E B, P A v D, Center for Lysosomal and Metabolic Diseases S C A W, G J S, M E K, T J M v G, S G, J P, E B, A T v d P, P A v D, W W M P P, Molecular Stem Cell Biology, Department of Clinical Genetics G J S, T J M v G, S G, J P, W W M P P, Department of Cardiology M M, Department of Clinical Chemistry R H N v S, Erasmus MC University Medical Center, Rotterdam, The Netherlands Division of Metabolic Diseases and Genetics, Department of Pediatrics, Erasmus MC Sophia, Rotterdam, The Netherlands G J S, T J M v G, S G, J P, A T v d P, W W M P P Proteomics Center, Department of Pharmacology
    Circ Cardiovasc Genet 9:6-13. 2016
    ..Elevated plasma cardiac troponin T (cTnT) levels in patients with neuromuscular disorders may erroneously lead to the diagnosis of acute myocardial infarction or myocardial injury...
  10. pmc Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease
    Gerben J Schaaf
    Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Acta Neuropathol Commun 3:65. 2015
    ..Pathology included muscle fiber vacuolization, loss of cross striation, and immune cell infiltration...
  11. doi request reprint Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification
    Marie Claire Yvette de Wit
    Department of Pediatric Neurology, Erasmus Medical Center Sophia Children s Hospital, Rotterdam, The Netherlands
    Arch Neurol 65:358-66. 2008
    ..Much progress in understanding the genetic causes has been made recently. The number of affected children in whom a molecularly confirmed diagnosis can be made is unclear...
  12. doi request reprint Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples
    Chiara S M Straathof
    Department of Neurology, Leiden University Medical Center, P O Box 9600, 2300RC, Leiden, The Netherlands
    Muscle Nerve 53:44-8. 2016
    ..We searched for new mutations in the DMD gene in a cohort of previously undiagnosed patients who had been referred in the period 1985-1995...
  13. doi request reprint Serum IgG levels in IV immunoglobulin treated chronic inflammatory demyelinating polyneuropathy
    Krista Kuitwaard
    Department of Neurology, Erasmus MC, University Medical Center Rotterdam, Room Ee 2230, PO Box 2040, Rotterdam 3000 CA, The Netherlands
    J Neurol Neurosurg Psychiatry 84:859-61. 2013
    ..To determine the variability of serum IgG in patients with chronic inflammatory demyelinating polyneuropathy (CIDP)...
  14. doi request reprint Enzyme replacement therapy and fatigue in adults with Pompe disease
    Deniz Güngör
    Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Mol Genet Metab 109:174-8. 2013
    ..Pompe disease is a hereditary metabolic myopathy, for which enzyme replacement therapy (ERT) has been available since 2006. We investigated whether ERT reduces fatigue in adult patients with Pompe disease...
  15. ncbi request reprint Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction
    Peter C G Nijssen
    Department of Neurology, St Elisabeth Hospital, Tilburg, The Netherlands
    Mov Disord 17:482-7. 2002
    ..We conclude that parkinsonism in ANCL is likely to be caused by both presynaptic nigral cell loss and postsynaptic striatal degeneration...