Lista de obras - D.G. Healy - Dominio Público Uruguay

A common LRRK2 mutation in idiopathic Parkinson's disease

artículo científico publicado en 2005

A film of patients with movement disorders made in Queen Square, London in the Mid‐1920s by Samuel Alexander Kinnier Wilson ⬇️

artículo científico publicado el 2 de marzo de 2011

A functional polymorphism regulating dopamine beta-hydroxylase influences against Parkinson's disease

artículo científico publicado en 2004

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

article

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

artículo científico publicado en 2006

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

artículo científico publicado en 2014

Apolipoprotein e genotype modifies the phenotype of Alzheimer disease

artículo científico publicado en 2006

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

artículo científico publicado en 2004

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

artículo científico publicado en 2004

Cervical dystonia: a disorder of the midbrain network for covert attentional orienting

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2004

Commentary on "A genome wide linkage disequilibrium screen in Parkinson's disease" by Foltynie et al. in J Neurol (2005) 252:597-602

artículo científico publicado en 2005

Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue.

artículo científico publicado en 2012

Creation of an open-access, mutation-defined fibroblast resource for neurological disease research

artículo científico publicado en 2012

DJ-1 mutations in Parkinson's disease

artículo científico publicado en 2004

Evidence for pre and postsynaptic nigrostriatal dysfunction in the fragile X tremor-ataxia syndrome

artículo científico publicado en 2009

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

artículo científico publicado en 2012

Genetic approaches to solving common diseases.

artículo científico publicado en 2004

Genetic causes of Parkinson's disease: UCHL-1.

artículo científico publicado en 2004

Glucosylceramidase degradation in fibroblasts carrying bi-allelic Parkin mutations

artículo científico publicado en 2013

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

artículo científico publicado en 2004

Molecular genetic pathways in Parkinson's disease: a review

artículo científico publicado en 2005

Multiple mitochondrial DNA deletions in monozygotic twins with OPMD

artículo científico publicado en 2007

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

artículo científico publicado en 2005

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

scientific article published on 01 November 2006

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

artículo científico publicado en 2006

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

artículo científico publicado en 2004

PINK1 protein in normal human brain and Parkinson's disease

artículo científico publicado en 2006

Parkin disease: a clinicopathologic entity?

artículo científico publicado en 2013

Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue

artículo científico publicado en 2011

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

scientific journal article

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

artículo científico publicado en 2008

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

artículo científico publicado en 2005

Population genetics for target identification

artículo científico

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

artículo científico publicado en 2004

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

artículo científico publicado en 2014

Test for LRRK2 mutations in patients with Parkinson's disease.

artículo científico publicado en 2008

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

artículo científico publicado en 2020

The ADH1C stop mutation in multiple system atrophy patients and healthy probands in the United Kingdom and Germany

scientific article published on 01 November 2006

The alpha-synuclein gene in multiple system atrophy

artículo científico publicado en 2006

The endophenotype and the phenotype: temporal discrimination and adult-onset dystonia

artículo científico publicado en 2013

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

artículo científico publicado en 2004

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

artículo científico publicado en 2005

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

artículo científico publicado en 2004

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

artículo científico publicado en 2003

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

artículo científico publicado en 2004

UCHL-1 gene in multiple system atrophy: a haplotype tagging approach

artículo científico publicado en 2005

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

artículo científico publicado en 2006

Lista de obras de D.G. Healy

A common LRRK2 mutation in idiopathic Parkinson's disease

A film of patients with movement disorders made in Queen Square, London in the Mid‐1920s by Samuel Alexander Kinnier Wilson ⬇️

A functional polymorphism regulating dopamine beta-hydroxylase influences against Parkinson's disease

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

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

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

Apolipoprotein e genotype modifies the phenotype of Alzheimer disease

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

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

Cervical dystonia: a disorder of the midbrain network for covert attentional orienting

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

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

Commentary on "A genome wide linkage disequilibrium screen in Parkinson's disease" by Foltynie et al. in J Neurol (2005) 252:597-602

Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue.

Creation of an open-access, mutation-defined fibroblast resource for neurological disease research

DJ-1 mutations in Parkinson's disease

Evidence for pre and postsynaptic nigrostriatal dysfunction in the fragile X tremor-ataxia syndrome

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

Genetic approaches to solving common diseases.

Genetic causes of Parkinson's disease: UCHL-1.

Glucosylceramidase degradation in fibroblasts carrying bi-allelic Parkin mutations

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

Molecular genetic pathways in Parkinson's disease: a review

Multiple mitochondrial DNA deletions in monozygotic twins with OPMD

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

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

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

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

PINK1 protein in normal human brain and Parkinson's disease

Parkin disease: a clinicopathologic entity?

Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue

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

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

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

Population genetics for target identification

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

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

Test for LRRK2 mutations in patients with Parkinson's disease.

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

The ADH1C stop mutation in multiple system atrophy patients and healthy probands in the United Kingdom and Germany

The alpha-synuclein gene in multiple system atrophy

The endophenotype and the phenotype: temporal discrimination and adult-onset dystonia

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

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

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

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

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

UCHL-1 gene in multiple system atrophy: a haplotype tagging approach

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