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Lista de obras de Rachel A Gibson

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

artículo científico publicado en 1993

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

artículo científico publicado en 2005

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

artículo científico publicado en 2011

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

artículo científico publicado el 1 de junio de 1993

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

ATP13A2 variability in Parkinson disease.

scientific article published on March 2009

Age at onset in two common neurodegenerative diseases is genetically controlled

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2011

Association of Single-Nucleotide Polymorphisms of the Tau Gene With Late-Onset Parkinson Disease ⬇️

artículo científico publicado el 14 de noviembre de 2001

Association of the MAPT locus with Parkinson's disease

artículo científico publicado en 2009

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

artículo científico publicado en 2007

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

artículo científico publicado en 1993

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 1998

DNAJC13 mutations in Parkinson disease

artículo científico publicado en 2014

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

article

Fanconi's anaemia presenting as acute myeloid leukaemia in adulthood

artículo científico publicado en 1996

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

artículo científico publicado en 2003

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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

Translation initiator EIF4G1 mutations in familial Parkinson disease

artículo científico publicado en 2011

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