Anneke Gabreëls-Festen

Summary

Affiliation: University Medical Centre
Country: The Netherlands

Publications

  1. pmc Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33
    A Gabreels-Festen
    Institute of Neurology, University Hospital Nijmegen, The Netherlands
    J Neurol Neurosurg Psychiatry 66:569-74. 1999
  2. ncbi Human nerve pathology caused by different mutational mechanisms of the PMP22 gene
    A Gabreels-Festen
    Institute of Neurology, University Hospital Nijmegen, The Netherlands
    Ann N Y Acad Sci 883:336-43. 1999
  3. pmc Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients
    Anneke Gabreëls-Festen
    Institute of Neurology, University Medical Centre Nijmegen, The Netherlands
    J Anat 200:341-56. 2002

Detail Information

Publications3

  1. pmc Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33
    A Gabreels-Festen
    Institute of Neurology, University Hospital Nijmegen, The Netherlands
    J Neurol Neurosurg Psychiatry 66:569-74. 1999
    ....
  2. ncbi Human nerve pathology caused by different mutational mechanisms of the PMP22 gene
    A Gabreels-Festen
    Institute of Neurology, University Hospital Nijmegen, The Netherlands
    Ann N Y Acad Sci 883:336-43. 1999
    ....
  3. pmc Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients
    Anneke Gabreëls-Festen
    Institute of Neurology, University Medical Centre Nijmegen, The Netherlands
    J Anat 200:341-56. 2002
    ..6 years), and ambulant patients were found in all genetic subgroups. We conclude that DSS, although in general denoting a more serious neuropathy than CMT1, does not imply a severe disability or wheelchair dependency in adult life...