Daniel G Healy

Summary

Country: UK

Publications

  1. ncbi The ADH1C stop mutation in multiple system atrophy patients and healthy probands in the United Kingdom and Germany
    Ina Schmitt
    Mov Disord 21:2034. 2006
  2. ncbi A heterozygous effect for PINK1 mutations in Parkinson's disease?
    Patrick M Abou-Sleiman
    Department of Molecular Neuroscience, Institute of Neurology, London, United Kingdom
    Ann Neurol 60:414-9. 2006
  3. ncbi Case-control studies in the genomic era: a clinician's guide
    Daniel G Healy
    Institute of Neurology, Queen Square Hospital, Lambert palace road, London, UK
    Lancet Neurol 5:701-7. 2006
  4. pmc Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
    Daniel G Healy
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
    Lancet Neurol 7:583-90. 2008
  5. doi Neurological picture. Spontaneous intracranial hypotension, hygromata and haematomata
    D G Healy
    The National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
    J Neurol Neurosurg Psychiatry 79:442. 2008
  6. ncbi Did Géricault's "Madwoman Obsessed With Gambling" have Parkinson's disease?
    Daniel G Healy
    Institute of Neurology, Queen Square and Guy s and St Thomas Hospitals, London, UK
    Mov Disord 22:1069-70. 2007
  7. ncbi UCHL-1 is not a Parkinson's disease susceptibility gene
    Daniel G Healy
    Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom
    Ann Neurol 59:627-33. 2006
  8. ncbi NR4A2 genetic variation in sporadic Parkinson's disease: a genewide approach
    Daniel G Healy
    Department of Molecular Neuroscience, Institute of Neurology, London, United Kingdom
    Mov Disord 21:1960-3. 2006
  9. ncbi UCHL-1 gene in multiple system atrophy: a haplotype tagging approach
    Daniel G Healy
    Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom
    Mov Disord 20:1338-43. 2005
  10. ncbi A functional polymorphism regulating dopamine beta-hydroxylase influences against Parkinson's disease
    Daniel G Healy
    Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom
    Ann Neurol 55:443-6. 2004

Detail Information

Publications29

  1. ncbi The ADH1C stop mutation in multiple system atrophy patients and healthy probands in the United Kingdom and Germany
    Ina Schmitt
    Mov Disord 21:2034. 2006
  2. ncbi A heterozygous effect for PINK1 mutations in Parkinson's disease?
    Patrick M Abou-Sleiman
    Department of Molecular Neuroscience, Institute of Neurology, London, United Kingdom
    Ann Neurol 60:414-9. 2006
    ..To investigate the significance of PINK1 mutations in sporadic Parkinson's disease (PD)...
  3. ncbi Case-control studies in the genomic era: a clinician's guide
    Daniel G Healy
    Institute of Neurology, Queen Square Hospital, Lambert palace road, London, UK
    Lancet Neurol 5:701-7. 2006
    ..Important causes of non-replication include inadequate statistical power to detect small and moderate effects, phenotype heterogeneity, population stratification, publication bias, and multiple comparison testing...
  4. pmc Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
    Daniel G Healy
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
    Lancet Neurol 7:583-90. 2008
    ..LRRK2-associated PD be distinguished from idiopathic PD; which mutations in LRRK2 are pathogenic; and what is the age-specific cumulative risk of PD for individuals who inherit or are at risk of inheriting a deleterious mutation in LRRK2?..
  5. doi Neurological picture. Spontaneous intracranial hypotension, hygromata and haematomata
    D G Healy
    The National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
    J Neurol Neurosurg Psychiatry 79:442. 2008
  6. ncbi Did Géricault's "Madwoman Obsessed With Gambling" have Parkinson's disease?
    Daniel G Healy
    Institute of Neurology, Queen Square and Guy s and St Thomas Hospitals, London, UK
    Mov Disord 22:1069-70. 2007
    ..The author speculates on a diagnosis of Parkinson's disease, a disorder only recently described by James Parkinson (1817), but probably already known to French Neurology...
  7. ncbi UCHL-1 is not a Parkinson's disease susceptibility gene
    Daniel G Healy
    Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom
    Ann Neurol 59:627-33. 2006
    ..The strongest evidence comes from a meta-analysis of small studies that reported the S18Y polymorphism as protective against PD, after pooling studies of white and Asian subjects. Here, we present data that challenge this association...
  8. ncbi NR4A2 genetic variation in sporadic Parkinson's disease: a genewide approach
    Daniel G Healy
    Department of Molecular Neuroscience, Institute of Neurology, London, United Kingdom
    Mov Disord 21:1960-3. 2006
    ..Here, we use a haplotype-tagging approach in 802 PD patients and 784 controls and demonstrate that common genetic variation, including NR4A2 haplotypes, does not influence the risk of PD in the Caucasian population...
  9. ncbi UCHL-1 gene in multiple system atrophy: a haplotype tagging approach
    Daniel G Healy
    Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom
    Mov Disord 20:1338-43. 2005
    ..This search included the S18Y variant of UCHL-1, which has been reported to be protective in Parkinson's disease...
  10. ncbi A functional polymorphism regulating dopamine beta-hydroxylase influences against Parkinson's disease
    Daniel G Healy
    Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom
    Ann Neurol 55:443-6. 2004
    ..46 (CI = 0.27-0.8). Rather than identifying a haplotype, or a marker in linkage disequilibrium with the risk variant, this to our knowledge is the first report directly linking PD susceptibility with a proven functional variant...
  11. ncbi Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data
    Naheed L Khan
    Department of Molecular Neuroscience, Institute of Neurology, London, UK
    Brain 128:2786-96. 2005
    ....
  12. ncbi A common LRRK2 mutation in idiopathic Parkinson's disease
    William P Gilks
    Department of Molecular Neuroscience, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
    Lancet 365:415-6. 2005
    ..We suggest that testing for this mutation will be important in the management and genetic counselling of patients with Parkinson's disease...
  13. ncbi The gene responsible for PARK6 Parkinson's disease, PINK1, does not influence common forms of parkinsonism
    Daniel G Healy
    Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom
    Ann Neurol 56:329-35. 2004
    ....
  14. ncbi Causes of Parkinson's disease: genetics of DJ-1
    Patrick M Abou-Sleiman
    Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, WC1N 3BG, UK
    Cell Tissue Res 318:185-8. 2004
    ..It therefore remains to be determined whether these patients form Lewy bodies and/or Lewy neurites, the eosinophilic fibrillary inclusions that contain predominantly alpha-synuclein and that are the pathological hallmark of PD...
  15. ncbi The spectrum of pathological involvement of the striatonigral and olivopontocerebellar systems in multiple system atrophy: clinicopathological correlations
    Tetsutaro Ozawa
    Queen Square Brain Bank, Department of Molecular Neuroscience, Institute of Neurology, Queen Square, UCL, London, UK
    Brain 127:2657-71. 2004
    ....
  16. ncbi Altered cleavage and localization of PINK1 to aggresomes in the presence of proteasomal stress
    Miratul M K Muqit
    Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK
    J Neurochem 98:156-69. 2006
    ..These observations provide valuable insights into the mechanisms of LB formation in PD that should lead to a better understanding of PD pathogenesis...
  17. ncbi Molecular genetic pathways in Parkinson's disease: a review
    Shushant Jain
    Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London WC1N 3BG, U K
    Clin Sci (Lond) 109:355-64. 2005
    ..This review aims to summarize the genetic findings within PD...
  18. doi Parkin disease: a clinicopathologic entity?
    Karen M Doherty
    Reta Lila Weston Institute for Neurological Studies, University College London, London, England
    JAMA Neurol 70:571-9. 2013
    ..The few available detailed neuropathologic reports suggest that homozygous and compound heterozygous parkin mutations are characterized by severe substantia nigra pars compacta neuronal loss...
  19. ncbi Genetic causes of Parkinson's disease: UCHL-1
    Daniel G Healy
    Department of Molecular Neuroscience, Institute of Neurology, Queen Square, WC1N 3BG, London, UK
    Cell Tissue Res 318:189-94. 2004
    ..Important issues regarding UCHL-1 and its role in PD remain inconclusive, especially regarding the pathogenicity of the mendelian I93M mutation. This review tries to address some of these uncertainties...
  20. pmc G2019S leucine-rich repeat kinase 2 causes uncoupling protein-mediated mitochondrial depolarization
    Tatiana D Papkovskaia
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London NW3 2PF, UK
    Hum Mol Genet 21:4201-13. 2012
    ....
  21. ncbi PINK, PANK, or PARK? A clinicians' guide to familial parkinsonism
    Daniel G Healy
    Department of Molecular Neuroscience, Institute of Neurology, and National Hospital for Neurology and Neurosurgery, London, UK
    Lancet Neurol 3:652-62. 2004
    ..However, their discovery also requires us to raise issues about genetic testing and genetic counselling...
  22. ncbi The role of pathogenic DJ-1 mutations in Parkinson's disease
    Patrick M Abou-Sleiman
    Department of Molecular Neuroscience, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
    Ann Neurol 54:283-6. 2003
    ..No mutations were found in our cohort of later onset sporadic pathologically confirmed cases, suggesting that DJ-1 mutations may only rarely contribute to the cause of this more typical sporadic form of the disease...
  23. ncbi Clinical picture of bilateral vestibular schwannomas, sudden bilateral hearing loss, and aviation
    Daniel G Healy
    Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London WCIN 3BG, UK
    Neurology 63:933. 2004
  24. ncbi Non-motor symptoms of Parkinson's disease: diagnosis and management
    K Ray Chaudhuri
    Movement Disorders Unit, Kings College Hospital, Guy s King s and St Thomas School of Medicine, London, UK
    Lancet Neurol 5:235-45. 2006
    ..Inevitably, the development of treatments that can slow or prevent the progression of Parkinson's disease and its multicentric neurodegeneration provides the best hope of curing non-motor symptoms...
  25. ncbi Commentary on "A genome wide linkage disequilibrium screen in Parkinson's disease" by Foltynie et al. in J Neurol (2005) 252:597-602
    Nicholas W Wood
    J Neurol 252:603-4. 2005
  26. ncbi Assessment of a DJ-1 (PARK7) polymorphism in Finnish PD
    Daniel G Healy
    Neurology 62:2335. 2004
  27. ncbi Hereditary early-onset Parkinson's disease caused by mutations in PINK1
    Enza Maria Valente
    CSS IRCCS, Mendel Institute, Viale Regina Margherita 261, 00198 Rome, Italy
    Science 304:1158-60. 2004
    ..These data provide a direct molecular link between mitochondria and the pathogenesis of PD...
  28. ncbi The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease
    Rina Bandopadhyay
    Reta Lila Weston Institute of Neurological Studies, Royal Free and UCL Medical School, 46 Cleveland Street, London W1T 4JF, UK
    Brain 127:420-30. 2004
    ..These results are consistent with the hypothesis that neuronal-glial interactions are important in the pathophysiology of Parkinson's disease...
  29. ncbi Apolipoprotein e genotype modifies the phenotype of Alzheimer disease
    Jonathan M Schott
    Arch Neurol 63:155-6. 2006