Christos Proukakis

Summary

Affiliation: University College London
Country: UK

Publications

  1. pmc A novel α-synuclein missense mutation in Parkinson disease
    Christos Proukakis
    Department of Clinical Neuroscience, University College London, UK
    Neurology 80:1062-4. 2013
  2. pmc Somatic alpha-synuclein mutations in Parkinson's disease: hypothesis and preliminary data
    Christos Proukakis
    Department of Clinical Neuroscience, Institute of Neurology, University College London, London, United Kingdom
    Mov Disord 28:705-12. 2013
  3. ncbi Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations
    Christos Proukakis
    Department of Clinical Neuroscience, Institute of Neurology, University College London, London, United Kingdom
    Mov Disord 29:1060-4. 2014
  4. pmc α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?
    Aoife P Kiely
    Queen Square Brain Bank, UCL Institute of Neurology, London, UK
    Acta Neuropathol 125:753-69. 2013
  5. doi Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males
    Christos Proukakis
    Department of Clinical Neurosciences, University College London Institute of Neurology, Royal Free Campus, London, NW3 2PF, UK
    J Neurol Sci 306:62-5. 2011
  6. ncbi Hyposmia and cognitive impairment in Gaucher disease patients and carriers
    Alisdair McNeill
    Department of Clinical Neuroscience, University College London Institute of Neurology, Royal Free Hospital, London, United Kingdom
    Mov Disord 27:526-32. 2012

Detail Information

Publications6

  1. pmc A novel α-synuclein missense mutation in Parkinson disease
    Christos Proukakis
    Department of Clinical Neuroscience, University College London, UK
    Neurology 80:1062-4. 2013
    ..Alpha-synuclein (SNCA) is central to the pathogenesis of Parkinson disease (PD), with 3 missense mutations reported to date. We report a novel mutation (p.H50Q) in a pathologically proven case...
  2. pmc Somatic alpha-synuclein mutations in Parkinson's disease: hypothesis and preliminary data
    Christos Proukakis
    Department of Clinical Neuroscience, Institute of Neurology, University College London, London, United Kingdom
    Mov Disord 28:705-12. 2013
    ..Further studies of brain-derived DNA are warranted and should include DNA from multiple regions and methods for detecting other types of genomic variation...
  3. ncbi Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations
    Christos Proukakis
    Department of Clinical Neuroscience, Institute of Neurology, University College London, London, United Kingdom
    Mov Disord 29:1060-4. 2014
    ..We have recently hypothesized that somatic mutations in early development could contribute to PD...
  4. pmc α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?
    Aoife P Kiely
    Queen Square Brain Bank, UCL Institute of Neurology, London, UK
    Acta Neuropathol 125:753-69. 2013
    ..Greater understanding of the disease mechanism underlying the G51D mutation could aid in understanding of α-synuclein biology and its impact on disease phenotype...
  5. doi Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males
    Christos Proukakis
    Department of Clinical Neurosciences, University College London Institute of Neurology, Royal Free Campus, London, NW3 2PF, UK
    J Neurol Sci 306:62-5. 2011
    ..Hereditary spastic paraplegia (HSP) is characterised in its pure form by slowly progressive spastic paraparesis. Around 40% of autosomal dominant (AD) cases are caused by mutations in SPAST, encoding spastin...
  6. ncbi Hyposmia and cognitive impairment in Gaucher disease patients and carriers
    Alisdair McNeill
    Department of Clinical Neuroscience, University College London Institute of Neurology, Royal Free Hospital, London, United Kingdom
    Mov Disord 27:526-32. 2012
    ..Impairment of olfaction, cognition, and parkinsonian motor signs occurs more frequently in Gaucher disease patients and carriers than in controls, which may indicate the early stages of neurodegeneration...