List of works by Rachel A Gibson

A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews

scientific article

A genome-wide scan provides evidence for loci influencing a severe heritable form of common migraine.

scientific article published on 14 April 2005

A knowledge-driven interaction analysis reveals potential neurodegenerative mechanism of multiple sclerosis susceptibility.

scientific article published on 24 February 2011

A nonsense mutation and exon skipping in the Fanconi anaemia group C gene ⬇️

scientific article published on June 1, 1993

A randomised trial evaluating the effects of the TRPV1 antagonist SB705498 on pruritus induced by histamine, and cowhage challenge in healthy volunteers

scientific article

A randomized, double-blind, placebo-controlled trial of camicinal in Parkinson's disease.

scientific article published on 26 December 2017

ATP13A2 variability in Parkinson disease.

scientific article published on March 2009

Age at onset in two common neurodegenerative diseases is genetically controlled

scientific article published on March 2002

An assessment of the Irish population for large-scale genetic mapping studies involving epilepsy and other complex diseases

An exploration of cognitive subgroups in Alzheimer's disease

scientific article

Anatomically-distinct genetic associations of APOE epsilon4 allele load with regional cortical atrophy in Alzheimer's disease

scientific article published in November 2008

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

scientific article published on 30 August 2011

Association of the MAPT locus with Parkinson's disease

scientific article

Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease

scientific article

Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR

scientific article

Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations.

scientific article published in September 2006

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

scientific journal article

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

scientific article published on October 2010

Construction of a high-resolution physical and transcription map of chromosome 16q24.3: a region of frequent loss of heterozygosity in sporadic breast cancer.

scientific article published in May 1998

DNAJC13 mutations in Parkinson disease

scientific article (publication date: April 2014)

EcoRI RFLP in the Fanconi anaemia complementation group C gene (FACC)

article

Fanconi's anaemia presenting as acute myeloid leukaemia in adulthood

scientific article published on 01 July 1996

Genetic polymorphisms of the N-acetyltransferase genes and risk of Parkinson's disease

scientific article published on 01 April 2003

Genetic variation in GOLM1 and prefrontal cortical volume in Alzheimer's disease

scientific article published on 8 June 2010

Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis

scientific journal article

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

scientific article

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

scientific article

LRRK2 Gly2019Ser penetrance in Arab-Berber patients from Tunisia: a case-control genetic study

scientific article published on 6 June 2008

Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci

scientific article

Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study

scientific article published in November 2007

PINK1 mutations and parkinsonism

scientific article published on 06 August 2008

Pathway and network-based analysis of genome-wide association studies in multiple sclerosis

scientific article published on 13 March 2009

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

scientific article

Proteomic identification and early validation of complement 1 inhibitor and pigment epithelium-derived factor: Two novel biomarkers of Alzheimer's disease in human plasma.

scientific article

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

scientific article

Translation initiator EIF4G1 mutations in familial Parkinson disease

scientific article (publication date: 9 September 2011)

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