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Author Details

Rachel A Gibson
Guy's Hospital
1993
52
33
PMIDPaper TitleJournal TitlePublished Year
29278279A randomized, double-blind, placebo-controlled trial of camicinal in Parkinson's disease.Mov Disord2018
24218364DNAJC13 mutations in Parkinson disease.Hum Mol Genet2014
25047038A randomised trial evaluating the effects of the TRPV1 antagonist SB705498 on pruritus induced by histamine, and cowhage challenge in healthy volunteers.PLoS One2014
23913756Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.Mov Disord2013
20570408Genetic variation in GOLM1 and prefrontal cortical volume in Alzheimer's disease.Neurobiol Aging2012
21346779A knowledge-driven interaction analysis reveals potential neurodegenerative mechanism of multiple sclerosis susceptibility.Genes Immun2011
21885347Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.Lancet Neurol2011
21907011Translation initiator EIF4G1 mutations in familial Parkinson disease.Am J Hum Genet2011
19726410A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease.J Neurol Neurosurg Psychiatry2010
20721913Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa.Mov Disord2010
20522523Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.Brain2010
20144646Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease.Mech Ageing Dev2010
20398883Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.Am J Hum Genet2010
19958568An exploration of cognitive subgroups in Alzheimer's disease.J Int Neuropsychol Soc2010
19945510Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa.Neurosci Lett2010
19010793Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.Hum Mol Genet2009
19525953Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.Nat Genet2009
19085912ATP13A2 variability in Parkinson disease.Hum Mutat2009
19286671Pathway and network-based analysis of genome-wide association studies in multiple sclerosis.Hum Mol Genet2009
19013250Anatomically-distinct genetic associations of APOE epsilon4 allele load with regional cortical atrophy in Alzheimer's disease.Neuroimage2009
17433753A founding LRRK2 haplotype shared by Tunisian, US, European and Middle Eastern families with Parkinson's disease.Parkinsonism Relat Disord2008
21136851Proteomic identification and early validation of complement 1 inhibitor and pigment epithelium-derived factor: Two novel biomarkers of Alzheimer's disease in human plasma.Proteomics Clin Appl2008
18539535LRRK2 Gly2019Ser penetrance in Arab-Berber patients from Tunisia: a case-control genetic study.Lancet Neurol2008
18685134PINK1 mutations and parkinsonism.Neurology2008
17971835An assessment of the Irish population for large-scale genetic mapping studies involving epilepsy and other complex diseases.Eur J Hum Genet2008
17998437Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease.Arch Neurol2008
17115391Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families.Mov Disord2007
17913586Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study.Lancet Neurol2007
16966502Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations.Arch Neurol2006
15830246A genome-wide scan provides evidence for loci influencing a severe heritable form of common migraine.Neurogenetics2005
12682333Genetic polymorphisms of the N-acetyltransferase genes and risk of Parkinson's disease.Neurology2003
11875758Age at onset in two common neurodegenerative diseases is genetically controlled.Am J Hum Genet2002
11710888Complete genomic screen in Parkinson disease: evidence for multiple genes.JAMA2001
11344308Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa.Proc Natl Acad Sci U S A2001
11710889Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease.JAMA2001
10431244Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism.Nat Genet1999
9628816Construction of a high-resolution physical and transcription map of chromosome 16q24.3: a region of frequent loss of heterozygosity in sporadic breast cancer.Genomics1998
9452030Exon 6 skipping in the Fanconi anemia C gene associated with a nonsense/missense mutation (775C-->T) in exon 5: the first example of a nonsense mutation in one exon causing skipping of another downstream.Hum Mutat1998
8986283VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): mutation in the FAC gene.Am J Med Genet1997
9272737Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance.Eur J Hum Genet1997
9169126The genomic organization of the Fanconi anemia group A (FAA) gene.Genomics1997
8844212Novel mutations and polymorphisms in the Fanconi anemia group C gene.Hum Mutat1996
8757521Fanconi's anaemia presenting as acute myeloid leukaemia in adulthood.Br J Haematol1996
7581462Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3.Nat Genet1995
7853372Genetic mapping of the FACC gene and linkage analysis in Fanconi anaemia families.J Med Genet1994
8128956Mutation analysis of the Fanconi anemia gene FACC.Am J Hum Genet1994
7689011A nonsense mutation and exon skipping in the Fanconi anaemia group C gene.Hum Mol Genet1993
7902167EcoRI RFLP in the Fanconi anaemia complementation group C gene (FACC).Hum Mol Genet1993
8103176FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia.Lancet1993
8348157A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.Nat Genet1993
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Collaborators

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Tampere University
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School of Pharmacy and Biomolecular Sciences, Ireland FutureNeuro SFI Research Centre
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FutureNeuro SFI Research Centre, The Royal College of Surgeons in Ireland
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