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List of works by Owen A. Ross

(Patho-)physiological relevance of PINK1-dependent ubiquitin phosphorylation

scientific article

A Novel Tau Mutation in Exon 12, p.Q336H, Causes Hereditary Pick Disease

scientific article

A Prognostic View on the Application of Individualized Genomics in Parkinson’s Disease ⬇️

scientific article published on January 12, 2013

A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction

scientific article published on 25 July 2009

A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease

scientific article

A familial form of parkinsonism, dementia, and motor neuron disease: a longitudinal study

scientific article

A genome-wide association study in multiple system atrophy

scientific article published on 14 September 2016

A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease

scientific article

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

scientific article

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

article by Sven J. van der Lee et al published 27 May 2019 in Acta Neuropathologica

A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics

scientific article

A novel de novo pathogenic mutation in the CACNA1A gene

scientific article

A novel polymorphic triplet repeat in intron five of the alpha-synuclein gene: no evidence of expansion or allelic association with idiopathic Parkinson's disease in the Irish

scientific article published in September 2002

A novel tau mutation, p.K317N, causes globular glial tauopathy

scientific article published on 22 April 2015

ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans

scientific article published on 11 October 2018

APOE ε2 is associated with increased tau pathology in primary tauopathy

scientific article published in Nature Communications

APOE ε4 is associated with severity of Lewy body pathology independent of Alzheimer pathology

scientific article published on 24 August 2018

APOE4 exacerbates α-synuclein pathology and related toxicity independent of amyloid

scientific article published on 01 February 2020

ATXN2 trinucleotide repeat length correlates with risk of ALS.

scientific article

Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review

scientific article

Age and Age-Related Diseases: Role of Inflammation Triggers and Cytokines.

scientific article

Age- and disease-dependent increase of the mitophagy marker phospho-ubiquitin in normal aging and Lewy body disease

scientific article published on 28 July 2018

Alpha-synuclein and tau: teammates in neurodegeneration?

scientific article

Alpha-synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population

scholarly article by Alex Rajput et al published 4 November 2009 in Movement Disorders

An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology

scientific article published on 30 January 2012

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

scientific article

Analysis of COQ2 gene in multiple system atrophy

scientific article

Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease

scientific article

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

scientific article published on 29 January 2020

Analysis of nuclear export sequence regions of FUS-Related RNA-binding proteins in essential tremor

scientific article

Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome

scientific article published on 18 October 2012

Angiogenin variation and Parkinson disease

scientific article published in May 2012

ApoE variant p.V236E is associated with markedly reduced risk of Alzheimer's disease

scientific article published on 10 March 2014

Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data

scientific article

Association of ABI3 and PLCG2 missense variants with disease risk and neuropathology in Lewy body disease and progressive supranuclear palsy

scientific article published on 22 October 2020

Association of GBA Mutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson Disease

scientific article published on 29 August 2016

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study ⬇️

scientific article published on 30 August 2011

Association of MAPT Subhaplotypes With Risk of Progressive Supranuclear Palsy and Severity of Tau Pathology

scientific article published on 01 June 2019

Association of MAPT subhaplotypes with clinical and demographic features in Parkinson's disease

scientific article published on 07 August 2020

Association of Parkinson disease age of onset with DRD2, DRD3 and GRIN2B polymorphisms

scientific article published on 25 November 2015

Association of Tripartite Motif Containing 11 rs564309 with Tau Pathology in Progressive Supranuclear Palsy

scientific article published on 06 March 2020

Association of alpha-, beta-, and gamma-Synuclein with diffuse lewy body disease

scientific article published on August 2010

Association of pyridoxal kinase and Parkinson disease

scientific article published in March 2010

Association of the APOE, MTHFR and ACE Genes Polymorphisms and Stroke in Zambian Patients

scientific article

Association studies of sporadic Parkinson's disease in the genomic era.

scientific article published on February 2014

Association study between multiple system atrophy and TREM2 p.R47H

Associations of mitochondrial genomic variation with corticobasal degeneration, progressive supranuclear palsy, and neuropathological tau measures

scientific article published on 17 September 2020

Asymmetrical leg atrophy in levodopa-responsive dystonia due to a novel GTP cyclohydrolase mutation

scientific article

Ataxin-2 repeat-length variation and neurodegeneration

scientific article

Atypical Parkinsonian syndromes: a general neurologist's perspective

scientific article

Autosomal dominant Parkinson's disease caused by SNCA duplications

scientific article published on 3 September 2015

Cerebellar ataxia in progressive supranuclear palsy: An autopsy study of PSP-C.

scientific article published on 3 February 2016

Chromosome 22q11.2 deletion may contain a locus for recessive early-onset Parkinson's disease

scientific article published on 27 June 2014

Chronic traumatic encephalopathy pathology in a neurodegenerative disorders brain bank

scientific article

Clinical Heterogeneity of the LRRK2 G2019S Mutation

Clinical characteristics of Parkinson's disease among Jewish Ethnic groups in Israel

scientific article published on 30 July 2008

Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease

scientific article

Clinical traits of LRRK2-associated Parkinson's disease in Ireland: a link between familial and idiopathic PD.

scientific article published in September 2005

Clinicopathologic and 11C-Pittsburgh compound B implications of Thal amyloid phase across the Alzheimer's disease spectrum

scientific article published on 23 March 2015

Common mitochondrial sequence variants in ischemic stroke

scientific article

Common variants in Parkinson's disease

scientific article published on 01 April 2007

Common variants within oxidative phosphorylation genes influence risk of ischemic stroke and intracerebral hemorrhage

scientific article

Comparison of clinical features among Parkinson's disease subtypes: A large retrospective study in a single center

scientific article

Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa

scientific article published on October 2010

Copy number variation in Parkinson's disease ⬇️

scientific article published on 06 September 2010

Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

scientific article published on 18 January 2020

Correction: Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

scientific article

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

scientific article

DCTN1 mutations in Perry syndrome

scientific article

DCTN1 variation in pathologically-confirmed PSP and CBD tauopathy

scientific article published on 30 August 2017

DCTN1-related neurodegeneration: Perry syndrome and beyond

scientific article published on 12 June 2017

DNAJC13 mutations in Parkinson disease

scientific article (publication date: April 2014)

DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease

scientific article published on 12 June 2009

Deep brain stimulation for levodopa-refractory benign tremulous parkinsonism

scientific article published on 24 June 2016

Diagnosis and management of dementia with Lewy bodies: Fourth consensus report of the DLB Consortium

scientific article

Differential clinicopathologic and genetic features of late-onset amnestic dementias

scientific article published on 5 June 2014

Differentiating clinicopathologic and genetic aspects of hippocampal sclerosis in Alzheimer's disease from limbic predominant Alzheimer's disease and “pure” hippocampal sclerosis

scholarly article by Neill Graff-Radford et al published July 2012 in Alzheimer's and Dementia

Digenic parkinsonism: investigation of the synergistic effects of PRKN and LRRK2.

scientific article published on December 2006

Does trans size matter in Huntington disease?

scientific article

Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease

scientific article published on 22 August 2008

EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population

scientific article

ELAVL4, PARK10, and the Celts

article

Early-onset Parkinson's disease due to PINK1 p.Q456X mutation--clinical and functional study

scientific article

Epigenetic regulation in Parkinson's disease

scientific article published on 29 June 2016

Establishing diagnostic criteria for Perry syndrome

scientific article published on 31 October 2017

Ethnoracial differences in Alzheimer's disease from the FLorida Autopsied Multi-Ethnic (FLAME) cohort

scholarly article by Octavio A Santos et al published May 2019 in Alzheimer's and Dementia

Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study

scientific article

Evaluation of the role of SNCA variants in survival without neurological disease

scientific article

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

scientific article

Exome Variant Mining in Familial Parkinson Disease: Will Replication Find the Gold?

scientific article

Exonic Re-Sequencing of the Chromosome 2q24.3 Parkinson's Disease Locus

scientific article published on 19 June 2015

Expanding the clinical phenotype of SNCA duplication carriers

scientific article

FGF20 and Parkinson's disease: no evidence of association or pathogenicity via alpha-synuclein expression

scientific article

Familial genes in sporadic disease: common variants of alpha-synuclein gene associate with Parkinson's disease

scientific article

Fine-mapping and candidate gene investigation within the PARK10 locus

scientific article

First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation

scientific article

Frequency of APOE, MTHFR and ACE polymorphisms in the Zambian population

scientific article

Frequency of cytokine gene promoter polymorphisms in the Northern Ireland Cystic Fibrosis population

article

Frequency of cytokine polymorphisms in populations from western Europe, Africa, Asia, the Middle East and South America

scientific article published on November 2002

Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells

scientific article

Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder

scholarly article by Jiao Li et al published July 2018 in Movement Disorders

Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease

scientific article

Functional promoter region polymorphism of the proinflammatory chemokine IL-8 gene associates with Parkinson's disease in the Irish

scientific article published in April 2004

GCH1 in early-onset Parkinson's disease.

scientific article

GWAS risk factors in Parkinson's disease: LRRK2 coding variation and genetic interaction with PARK16.

scientific article

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.

scientific article

Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology

scientific article

Genetic susceptibility variants in parkinsonism

scientific article published on 07 September 2015

Genetic variants associated with myocardial infarction in the PSMA6 gene and Chr9p21 are also associated with ischaemic stroke ⬇️

scientific article published on 06 August 2012

Genetic variants of α-synuclein are not associated with essential tremor

scientific article published on 24 October 2011

Genetic variation of Omi/HtrA2 and Parkinson's disease

scientific article published on 14 September 2008

Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease

scientific article

Genetics of Parkinson disease and essential tremor

scientific article published on August 2010

Genetics of Parkinson's Disease

scholarly article published 2008

Genetics of Vascular Dementia

scientific article

Genetics of ischemic stroke: inheritance of a sporadic disorder

scientific article published on January 2009

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

scientific article published on 15 February 2021

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

scientific article published on 2 November 2015

Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.

scientific article

Genome-wide association study in essential tremor identifies three new loci

scientific article published on 20 October 2016

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy

scientific article published on 16 June 2015

Genomewide association, Parkinson disease, and PARK10

scientific article published on June 2006

Genomic investigation of alpha-synuclein multiplication and parkinsonism

scientific article published on June 2008

Global distribution and reduced penetrance: Lrrk2 R1441C in an Irish Parkinson's disease kindred

scholarly article by David Gosal et al published 2007 in Movement Disorders

Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

scientific article

Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa

scientific article

Glucocerebrosidase mutations in diffuse Lewy body disease

scientific article

Glucosidase-beta variations and Lewy body disorders

scientific article

Glutathione S-transferase omega genes in Alzheimer and Parkinson disease risk, age-at-diagnosis and brain gene expression: an association study with mechanistic implications

scientific article

Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism

scientific article published on 26 October 2008

Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease

scientific article

Heterogeneity of Moyamoya disease: after a decade of linkage, is there new hope for a gene?

scientific article published in June 2008

Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism

scientific article

Hippocampal sclerosis in Lewy body disease is a TDP-43 proteinopathy similar to FTLD-TDP Type A

scientific article

Histamine N-methyltransferase Thr105Ile is not associated with Parkinson's disease or essential tremor

scientific article

Human leukocyte antigen variation and Parkinson's disease

scientific article

Hypothetical soluble KIR2DS4 natural killer cell receptor molecule does not associate with successful ageing in the Irish

scientific article published in May 2004

Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations

scientific article

Identification of genetic modifiers of age-at-onset for familial Parkinson's disease

scientific article

Identification of missing variants by combining multiple analytic pipelines

scientific article published on 16 April 2018

Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis

scientific article

Identification of potential protein interactors of Lrrk2

scientific article

Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

scientific article published on 9 January 2018

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

scientific article

Investigating FUS variation in Parkinson's disease

scientific article published on January 2014

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

scientific article published on 16 December 2017

Investigating the role of FUS exonic variants in essential tremor

scientific article published on 16 April 2013

Killer Immunoglobulin-like Receptors (KIR) haplogroups A and B track with Natural Killer Cells and Cytokine Profile in Aged Subjects: Observations from Octo/Nonagenarians in the Belfast Elderly Longitudinal Free-living Aging STudy (BELFAST).

scientific article published on 19 August 2013

LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease

scientific article

LINGO1 rs9652490 is associated with essential tremor and Parkinson disease

scientific article

LRRK2 exonic variants and risk of multiple system atrophy

scientific article

LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation

scientific article published on 28 October 2011

LRRK2 mutations and Parkinsonism

scientific article published in The Lancet

LRRK2 mutations are not common in Alzheimer's disease

scientific article published in November 2005

LRRK2 variation and Parkinson's disease in African Americans

scientific article

LRRK2 variation and dementia with Lewy bodies

scientific article published on 29 July 2016

Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease

scientific article

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

scientific article

Large-scale replication and heterogeneity in Parkinson disease genetic loci

scientific article

Latin America's first case of Perry syndrome and a new treatment option for respiratory insufficiency

scientific article published on 06 February 2014

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

scientific article published on 26 July 2012

Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson's disease

scientific article

Lewy body disease is a contributor to logopenic progressive aphasia phenotype

scientific article published on 04 December 2020

Linkage disequilibrium and association of MAPT H1 in Parkinson disease

scientific article

Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions

scientific article published on 7 December 2006

Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia

scientific article published on 10 January 2007

Lrrk2 R1628P in non-Chinese Asian races

scientific article published in October 2008

Lrrk2 and Lewy body disease

scientific article published in February 2006

Lrrk2 mutations in South America: A study of Chilean Parkinson's disease

scientific article

Lrrk2 p.Q1111H substitution and Parkinson's disease in Latin America

scientific article

Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain

article

MAPT haplotype H1G is associated with increased risk of dementia with Lewy bodies

scientific article published on 7 June 2016

MAPT haplotype diversity in multiple system atrophy

scientific article published on 16 June 2016

MAPT subhaplotypes in corticobasal degeneration: assessing associations with disease risk, severity of tau pathology, and clinical features

scientific article published on 07 December 2020

Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.

scientific article

Mitochondrial DNA damage in lymphocytes: a role in immunosenescence?

scientific article

Mitochondrial J haplogroup is associated with lower blood pressure and anti-oxidant status: findings in octo/nonagenarians from the BELFAST Study

scientific article published on 10 July 2012

Mitochondrial membrane protein-associated neurodegeneration

scientific article published on 21 March 2017

Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders

scientific article

Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease

scientific article published on 29 September 2010

Multiple system atrophy and apolipoprotein E.

scientific article published on 14 February 2018

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

scientific article published on 25 December 2011

NOTCH3 variants and risk of ischemic stroke

scientific article

Neuropathologically defined subtypes of Alzheimer's disease differ significantly from neurofibrillary tangle-predominant dementia

scientific article

Neuropathologically defined subtypes of Alzheimer's disease with distinct clinical characteristics: a retrospective study

scientific article

Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease.

scientific article

Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration

scientific article published on February 2014

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease

scientific article

Occurrence of Crohn's disease with Parkinson's disease.

scientific article published on 10 February 2017

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease

scientific article

PARK2 variability in Polish Parkinson's disease patients--interaction with mitochondrial haplogroups

scientific article published on 22 February 2012

PINK1 Phosphorylates MIC60/Mitofilin to Control Structural Plasticity of Mitochondrial Crista Junctions

scientific article

Parkinson disease—moving beyond association

scholarly article by Owen A Ross & Matthew J. Farrer published June 2010 in Nature Reviews Neurology

Parkinson-Associated SNCA Enhancer Variants Revealed by Open Chromatin in Mouse Dopamine Neurons.

scientific article

Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations

scientific article published on 17 June 2013

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease

scholarly article by Mathias Toft et al published 2007 in Movement Disorders

Patient-control association study of the Leucine-Rich repeat kinase 2 (LRRK2) gene in South African Parkinson's disease patients

scientific article published on 06 September 2013

Phactr2 and Parkinson's disease

scientific article published on 10 February 2009

Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson's disease

scientific article

Phenotypic associations of tau and ApoE in Parkinson's disease

scientific article published on 3 January 2007

Plasma neurofilament light predicts mortality in patients with stroke

scientific article published on 01 November 2020

Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study

scientific article

Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium

scientific article

Principal-component analysis for assessment of population stratification in mitochondrial medical genetics

scientific article

Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants

scientific article published on 17 August 2013

Quantitative PCR-based screening of alpha-synuclein multiplication in multiple system atrophy

scientific article published on 8 February 2007

RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies

scientific article published on 24 March 2016

Rare variants in MC1R/TUBB3 exon 1 are not associated with Parkinson's disease

scientific article published on 17 December 2015

Regional analysis and genetic association of nigrostriatal degeneration in Lewy body disease

scientific article published on 26 September 2017

Relationships between lewy and tau pathologies in 375 consecutive non-Alzheimer's olfactory bulbs

scientific article published on 11 January 2018

Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci

scholarly article by Monica Y Sanchez-Contreras published in July 2018

Reply to: SNCA variants are associated with increased risk of multiple system atrophy

scientific article published in March 2010

Reply: GIGYF2 variants are not associated with Parkinson's disease in Italy

article

Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder

scientific article

Reported mutations inGIGYF2are not a common cause of Parkinson's disease

scholarly article by Carles Vilariño-Güell et al published 15 March 2009 in Movement Disorders

Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies

scientific article

Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease

scientific article published on 22 July 2011

SLC1A2 rs3794087 does not associate with essential tremor

scientific article

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

scientific article

Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum

scientific article published on 9 April 2018

Sensitive ELISA-based detection method for the mitophagy marker p-S65-Ub in human cells, autopsy brain, and blood samples

scientific article published on 28 October 2020

Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia

scientific article published on 4 November 2012

Sex and age interact to determine clinicopathologic differences in Alzheimer's disease.

scientific article

Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia

scientific article

Similarities between familial and sporadic autopsy-proven progressive supranuclear palsy

scientific article published on May 2013

Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin

scientific article published on 3 June 2015

Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration

scientific article published on 6 October 2016

Subtypes of dementia with Lewy bodies are associated with α-synuclein and tau distribution

scientific article published on 19 June 2020

Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight

article

Systematic analysis of dark and camouflaged genes: disease-relevant genes hiding in plain sight: Supplemental figures

article

TARDBP mutations in Parkinson's disease

scientific article

THAL AMYLOID PHASE: CLINICOPATHOLOGIC AND PIB-PET IMPLICATIONS OF AD PATHOPHYSIOLOGY

TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study

scientific article published on 24 December 2014

TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease

scientific article published on 21 June 2013

TREM2 p.R47H substitution is not associated with dementia with Lewy bodies

scientific article published on 14 July 2016

The PINK1 p.I368N mutation affects protein stability and ubiquitin kinase activity

scientific article

The ups and downs of alpha-synuclein mRNA expression

scientific article published in January 2007

Three families with Perry syndrome from distinct parts of the world

scientific article

Three sib-pairs of autopsy-confirmed progressive supranuclear palsy

scientific article

Translation initiator EIF4G1 mutations in familial Parkinson disease

scientific article (publication date: 9 September 2011)

Tremor in progressive supranuclear palsy

scientific article published on 22 March 2016

Update on novel familial forms of Parkinson's disease and multiple system atrophy

scientific article published on January 2014

VPS35 Mutations in Parkinson Disease

scholarly article by Carles Vilariño-Güell et al published August 2011 in American Journal of Human Genetics

VPS35 and DNAJC13 disease-causing variants in essential tremor

scientific article published on 13 August 2014

VPS35 mutations in Parkinson disease

scientific article

Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway

scientific article published on 12 February 2007

Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.

scientific article

α-synuclein genetic variability: A biomarker for dementia in Parkinson disease

scientific article

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