D. Healy

发表

Non-motor symptoms of Parkinson's disease: diagnosis and management

K. Chaudhuri, A. Schapira, D. Healy, 2006, The Lancet Neurology.

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

E. Tolosa, A. Lang, A. Durr, 2008, The Lancet Neurology.

UCHL1 is a Parkinson's disease susceptibility gene.

D. Goldstein, R. Barker, N. Quinn, 2004 .

Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1

R. Nussbaum, A. Bentivoglio, A. Albanese, 2004, Science.

UCHL‐1 is not a Parkinson's disease susceptibility gene

D. Goldstein, R. Barker, N. Quinn, 2006, Annals of neurology.

Parkinsonism-Plus Syndromes

D. Healy, S. O’Dowd, D. Bradley, 2011 .

The endophenotype and the phenotype: Temporal discrimination and adult‐onset dystonia

Cathal Walsh, Robert Whelan, Richard B Reilly, 2013, Movement disorders : official journal of the Movement Disorder Society.

The α-synuclein gene in multiple system atrophy

D. Goldstein, E. Tolosa, N. Quinn, 2006, Journal of Neurology, Neurosurgery & Psychiatry.

UCHL‐1 gene in multiple system atrophy: A haplotype tagging approach

M. T. Pellecchia, D. Goldstein, E. Tolosa, 2005, Movement disorders : official journal of the Movement Disorder Society.

Title Cervical dystonia : A disorder of the midbrain network forcovert attentional orienting

Michael K. Hutchinson, R. Reilly, J. Butler, 2018 .

Altered cleavage and localization of PINK1 to aggresomes in the presence of proteasomal stress

A. Lees, T. Révész, N. Wood, 2006, Journal of neurochemistry.

Genetic causes of Parkinson’s disease: UCHL-1

N. Wood, D. Healy, P. Abou-Sleiman, 2004, Cell and Tissue Research.

DJ-1 mutations in Parkinson's disease.

N. Quinn, K. Bhatia, A. Lees, 2004, Journal of neurology, neurosurgery, and psychiatry.

The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group.

M. T. Pellecchia, E. Tolosa, H. Wichmann, 2005, Brain : a journal of neurology.

Test for LRRK2 mutations in patients with Parkinson’s disease

A. Schapira, N. Wood, D. Healy, 2008, Practical Neurology.

Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research

Martin N. Rossor, Margaret Sutherland, Colin J. Mahoney, 2012, PloS one.

Glucosylceramidase degradation in fibroblasts carrying bi-allelic Parkin mutations.

A. Schapira, D. Healy, A. McNeill, 2013, Molecular genetics and metabolism.

Pathogenic Parkinson’s disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation☆

Michael J. Devine, J. Hardy, A. Schapira, 2013, Biochemical and biophysical research communications.

Evidence for pre and postsynaptic nigrostriatal dysfunction in the fragile X tremor–Ataxia syndrome

S. Schneider, K. Bhatia, A. Lees, 2009 .

Epidemiological, clinical and genetic aspects of adult onset isolated focal dystonia in Ireland

Michael K. Hutchinson, F. Molloy, C. Walsh, 2017, European journal of neurology.

Did Géricault's “Madwoman Obsessed With Gambling” have Parkinson's disease?

D. Healy, 2007, Movement Disorders.

The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease.

Rina Bandopadhyay, Nicholas W Wood, Andrew J Lees, 2004, Brain : a journal of neurology.

The "round the houses" sign and "zig-zag" sign in progressive supranuclear palsy and other conditions.

S. Cronin, S. O'sullivan, D. Healy, 2020, Parkinsonism & Related Disorders.

Disulfide-Dependent Multimeric Assembly of Resistin Family Hormones

R. Nussbaum, A. Bentivoglio, A. Albanese, 2022 .

Assessment of a DJ-1 (PARK7) polymorphism in Finnish PD

N. Wood, K. Ahmadi, D. Healy, 2004, Neurology.

Copper deficiency as a treatable cause of poor balance

Z. Khaleeli, G. Giovannoni, D. Healy, 2010, BMJ : British Medical Journal.

A heterozygous effect for PINK1 mutations in Parkinson's disease?

N. Quinn, K. Bhatia, A. Lees, 2006, Annals of neurology.

The role of pathogenic DJ‐1 mutations in Parkinson's disease

N. Quinn, A. Lees, N. Wood, 2003, Annals of neurology.

Bartonella neuroretinitis (cat-scratch disease)

D. Healy, S. Yap, M. Saeed, 2020, Practical Neurology.

Cervical Dystonia: A Disorder of the Midbrain Network for Covert Attentional Orienting

Tadashi Isa, Daniel G. Healy, Cathal Walsh, 2014, Front. Neurol..

Multiple mitochondrial DNA deletions in monozygotic twins with OPMD

N. Wood, D. Healy, M. Davis, 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

PINK1 protein in normal human brain and Parkinson's disease.

J. Holton, A. Lees, T. Révész, 2006, Brain : a journal of neurology.

PINK 1 protein in normal human brain and Parkinson ’ s disease

J. Holton, A. Lees, T. Révész, 2006 .

G2019S leucine-rich repeat kinase 2 causes uncoupling protein-mediated mitochondrial depolarization

M. Duchen, J. Cooper, A. Schapira, 2012, Human molecular genetics.

PINK1 (PARK6) associated Parkinson disease in Ireland

N. Wood, D. Healy, S. Gandhi, 2004, Neurology.

The gene responsible for PARK6 Parkinson's disease, PINK1, does not influence common forms of parkinsonism

D. Goldstein, N. Quinn, K. Bhatia, 2004, Annals of neurology.

Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data.

A. Singleton, N. Quinn, D. Brooks, 2005, Brain : a journal of neurology.

Spontaneous intracranial hypotension, hygromata and haematomata

T. Yousry, D. Healy, P. Goadsby, 2008, Journal of Neurology Neurosurgery & Psychiatry.

Case-control studies in the genomic era: a clinician's guide

D. Healy, 2006, The Lancet Neurology.

Clinical picture of bilateral vestibular schwannomas, sudden bilateral hearing loss, and aviation

N. Wood, D. Healy, 2004, Neurology.

A common LRRK2 mutation in idiopathic Parkinson's disease

Nicholas W Wood, Niall P Quinn, Kailash P Bhatia, 2005, The Lancet.

Population genetics for target identification.

D. Goldstein, N. Wood, D. Healy, 2004, Drug discovery today. Technologies.

Anti-NMDA receptor encephalitis: an important differential diagnosis in psychosis

O. Hardiman, K. Murphy, D. Healy, 2011, British Journal of Psychiatry.

A Clinicopathologic Entity

J. Hardy, N. Quinn, A. Lees, 2017 .

Characterisation of a novel NR4A2 mutation in Parkinson's disease brain

M. Cookson, J. Holton, K. Bhatia, 2009, Neuroscience Letters.

NR4A2 genetic variation in sporadic Parkinson's disease: A genewide approach

N. Quinn, K. Bhatia, T. Révész, 2006, Movement disorders : official journal of the Movement Disorder Society.

Pregabalin‐ and gabapentin‐associated myoclonus in a patient with chronic renal failure

D. Healy, P. Brown, G. Ingle, 2009, Movement disorders : official journal of the Movement Disorder Society.

Clinical spectrum of AIFM1‐associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness

D. Healy, S. Murphy, R. Walsh, 2019, Journal of the peripheral nervous system : JPNS.

[Copper deficiency as a treatable cause of poor balance].

Z. Khaleeli, G. Giovannoni, D. Healy, 2010, Praxis.

PINK, PANK, or PARK? A clinicians' guide to familial parkinsonism

N. Wood, D. Healy, P. Abou-Sleiman, 2004, The Lancet Neurology.

Tau gene and Parkinson’s disease: a case–control study and meta-analysis

A J Lees, N W Wood, D G Healy, 2004, Journal of Neurology, Neurosurgery & Psychiatry.

Temporal discrimination, a cervical dystonia endophenotype: Penetrance and functional correlates

Cathal Walsh, Robert Whelan, Richard B Reilly, 2014, Movement disorders : official journal of the Movement Disorder Society.

The spectrum of pathological involvement of the striatonigral and olivopontocerebellar systems in multiple system atrophy: clinicopathological correlations.

Niall P Quinn, Dominic Paviour, Andrew J Lees, 2004, Brain : a journal of neurology.

Apolipoprotein e genotype modifies the phenotype of Alzheimer disease.

Nick C Fox, E. Warrington, M. Rossor, 2006, Archives of neurology.

Parkin disease: a clinicopathologic entity?

J. Hardy, N. Quinn, A. Lees, 2013, JAMA neurology.

Michael K. Hutchinson, R. Reilly, J. Butler, 2015, Front. Neurol..

A functional polymorphism regulating dopamine β‐hydroxylase influences against Parkinson's disease

D. Goldstein, E. Tolosa, N. Quinn, 2004, Annals of neurology.

K. Chaudhuri, D. Healy, S. Pal, 2006, Age and ageing.

Molecular genetic pathways in Parkinson's disease: a review.

N. Wood, D. Healy, S. Jain, 2005, Clinical science.

An evaluation of the role of environmental factors in the disease penetrance of cervical dystonia

Michael K. Hutchinson, R. Reilly, J. Butler, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

PARKIN DISEASE–A CLINICOPATHOLOGICAL ENTITY?

J. Hardy, N. Quinn, A. Lees, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

Causes of Parkinson’s disease: genetics of DJ-1

N. Wood, D. Healy, P. Abou-Sleiman, 2004, Cell and Tissue Research.

A functional polymorphism regulating dopamine beta-hydroxylase influences against Parkinson's disease.(vol 55, 443, 2004)

D. Goldstein, E. Tolosa, N. Quinn, 2004 .

The −1021C→T DBH gene variant is not associated with epilepsy or antiepileptic drug response

D. Goldstein, S. Sisodiya, C. Depondt, 2004, Neurology.

Population genetic approaches to neurological disease: Parkinson's disease as an example

D. Goldstein, M. Weale, N. Wood, 2005, Philosophical Transactions of the Royal Society B: Biological Sciences.

Pseudomonoballismus in a Deafferented Arm Following Combined Medullary and Cerebellar Lesions of the Proprioceptive Pathways

D. Healy, S. Looby, S. Connolly, 2017, Movement disorders clinical practice.

Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1

R. Nussbaum, A. Bentivoglio, A. Albanese, 2004, Science.

Atypical social cognitive processing in premotor Huntington’s disease: a single case study

P. Casey, O. Hardiman, D. Healy, 2015, Irish Journal of Psychological Medicine.

Temporal discrimination, a cervical dystonia endophenotype: Penetrance and functional correlates

Michael K. Hutchinson, R. Whelan, J. Balsters, 2014, Movement disorders : official journal of the Movement Disorder Society.

Commentary: The Fidgety Man with the Skin Rash

S. Reich, D. Healy, D. Desai, 2021, Movement disorders clinical practice.

Parkin disease: a clinicopathologic entity?

N. Quinn, A. Lees, T. Révész, 2013, JAMA neurology.

Genetic Approaches to Solving Common Diseases

N. Wood, D. Healy, P. Abou-Sleiman, 2004, Journal of Neurology.

Erratum: A functional polymorphism regulating dopamine β-hydroxylase influences against Parkinson's disease (Annals of Neurology (March 2004) 55 (443-446) DOI: 10.1002/ana.20235

D. Goldstein, E. Tolosa, N. Quinn, 2004 .