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Authors whose works are in public domain in at least one jurisdiction

List of works by Timothy Lynch

1-50 of 141 results

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

scientific article (publication date: July 2008)

VPS35 mutations in Parkinson disease

scientific article

Collaborative Analysis of α-Synuclein Gene Promoter Variability and Parkinson Disease

scientific article published in The Journal of the American Medical Association

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

scientific article

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

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

scientific article published on 30 August 2011

Translation initiator EIF4G1 mutations in familial Parkinson disease

scientific article (publication date: 9 September 2011)

Lrrk2 pathogenic substitutions in Parkinson's disease

scientific article published on 17 September 2005

Large-scale replication and heterogeneity in Parkinson disease genetic loci

scientific article

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

scientific article

Low frequency of alpha-synuclein mutations in familial Parkinson's disease

scientific article published in March 1998

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

scientific article

PINK1 (PARK6) associated Parkinson disease in Ireland

scientific article

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

scientific article published in April 2006

Parkin disease: a clinicopathologic entity?

scientific article

Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients with MAPT mutations.

scientific article

Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21

scientific article published on 01 January 1996

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

scientific article

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

scientific article

SGCE mutations cause psychiatric disorders: clinical and genetic characterization

scientific article

Genomewide association, Parkinson disease, and PARK10

scientific article published on June 2006

Genetic variation of Omi/HtrA2 and Parkinson's disease

scientific article published on 14 September 2008

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

scientific article

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

scientific article published on 30 January 2014

C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism

scientific article published on July 1, 2012

Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians

scientific article published in September 2002

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

scientific article

Association of the MAPT locus with Parkinson's disease

scientific article

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

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

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

scientific article

Presenilin 1 mutation in an african american family presenting with atypical Alzheimer dementia

scientific article published in June 2003

Reliability of patient completion of the historical section of the Unified Parkinson's Disease Rating Scale

scientific article published in March 1996

Parkinsonism, FXTAS, and FMR1 premutations

scientific article published in February 2005

Sporadic adult onset dystonia: sensory abnormalities as an endophenotype in unaffected relatives

scientific article

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

scientific article

SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.

scientific article published on 11 September 2014

Human leukocyte antigen variation and Parkinson's disease

scientific article

SNCA,MAPT, andGSK3Bin Parkinson disease: a gene-gene interaction study

article

Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy

scientific article published on April 1996

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

scientific article

Closing the tau loop: the missing tau mutation

scientific article published on August 21, 2015

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

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

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

scientific article

Genetics of Frontotemporal Dementia

scientific article published on December 2016

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

scientific article

Fine-mapping and candidate gene investigation within the PARK10 locus

scientific article

GAD antibody positive paraneoplastic stiff person syndrome in a patient with renal cell carcinoma

scientific article published on 01 July 2007

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

scientific article published on November 29, 2013