Kathryn J Peall

Summary

Country: UK

Publications

  1. pmc SGCE mutations cause psychiatric disorders: clinical and genetic characterization
    Kathryn J Peall
    MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Henry Wellcome Building, Heath Park, Cardiff, UK
    Brain 136:294-303. 2013
  2. ncbi request reprint Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review
    Kathryn J Peall
    MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, Cardiff, United Kingdom
    Mov Disord 26:1939-42. 2011
  3. ncbi request reprint SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype
    Kathryn J Peall
    MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ, UK
    J Neurol 261:2296-304. 2014
  4. ncbi request reprint Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum
    Kathryn J Peall
    MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK
    Dev Med Child Neurol 56:642-8. 2014

Detail Information

Publications4

  1. pmc SGCE mutations cause psychiatric disorders: clinical and genetic characterization
    Kathryn J Peall
    MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Henry Wellcome Building, Heath Park, Cardiff, UK
    Brain 136:294-303. 2013
    ..SGCE mutations are likely to have a pleiotropic effect in causing both motor and specific psychiatric symptoms...
  2. ncbi request reprint Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review
    Kathryn J Peall
    MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, Cardiff, United Kingdom
    Mov Disord 26:1939-42. 2011
    ..Mutations in the maternally imprinted epsilon-sarcoglycan gene occur in 30%-50% of myoclonus-dystonia cases. Psychiatric symptoms, particularly obsessive-compulsive disorder, have been described in some patients...
  3. ncbi request reprint SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype
    Kathryn J Peall
    MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ, UK
    J Neurol 261:2296-304. 2014
    ..Cases with whole SGCE gene deletions had additional clinical characteristics, which are not always predicted by deletion size or gene involvement. ..
  4. ncbi request reprint Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum
    Kathryn J Peall
    MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK
    Dev Med Child Neurol 56:642-8. 2014
    ..Loss-of-function mutations in NKX2.1, a gene vital to the normal development and function of the brain, lungs, and thyroid, have been identified in a number of individuals...