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Author Details
Full Name
Rachel A Gibson
Affiliation
Guy's Hospital
ORCID
Career Start Year
1993
Papers
52
H Index
33
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
29278279
A randomized, double-blind, placebo-controlled trial of camicinal in Parkinson's disease.
Mov Disord
2018
24218364
DNAJC13 mutations in Parkinson disease.
Hum Mol Genet
2014
25047038
A randomised trial evaluating the effects of the TRPV1 antagonist SB705498 on pruritus induced by histamine, and cowhage challenge in healthy volunteers.
PLoS One
2014
23913756
Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.
Mov Disord
2013
20570408
Genetic variation in GOLM1 and prefrontal cortical volume in Alzheimer's disease.
Neurobiol Aging
2012
21346779
A knowledge-driven interaction analysis reveals potential neurodegenerative mechanism of multiple sclerosis susceptibility.
Genes Immun
2011
21885347
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.
Lancet Neurol
2011
21907011
Translation initiator EIF4G1 mutations in familial Parkinson disease.
Am J Hum Genet
2011
19726410
A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease.
J Neurol Neurosurg Psychiatry
2010
20721913
Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa.
Mov Disord
2010
20522523
Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.
Brain
2010
20144646
Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease.
Mech Ageing Dev
2010
20398883
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.
Am J Hum Genet
2010
19958568
An exploration of cognitive subgroups in Alzheimer's disease.
J Int Neuropsychol Soc
2010
19945510
Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa.
Neurosci Lett
2010
19010793
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
Hum Mol Genet
2009
19525953
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
Nat Genet
2009
19085912
ATP13A2 variability in Parkinson disease.
Hum Mutat
2009
19286671
Pathway and network-based analysis of genome-wide association studies in multiple sclerosis.
Hum Mol Genet
2009
19013250
Anatomically-distinct genetic associations of APOE epsilon4 allele load with regional cortical atrophy in Alzheimer's disease.
Neuroimage
2009
17433753
A founding LRRK2 haplotype shared by Tunisian, US, European and Middle Eastern families with Parkinson's disease.
Parkinsonism Relat Disord
2008
21136851
Proteomic 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 Appl
2008
18539535
LRRK2 Gly2019Ser penetrance in Arab-Berber patients from Tunisia: a case-control genetic study.
Lancet Neurol
2008
18685134
PINK1 mutations and parkinsonism.
Neurology
2008
17971835
An assessment of the Irish population for large-scale genetic mapping studies involving epilepsy and other complex diseases.
Eur J Hum Genet
2008
17998437
Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease.
Arch Neurol
2008
17115391
Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families.
Mov Disord
2007
17913586
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study.
Lancet Neurol
2007
16966502
Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations.
Arch Neurol
2006
15830246
A genome-wide scan provides evidence for loci influencing a severe heritable form of common migraine.
Neurogenetics
2005
12682333
Genetic polymorphisms of the N-acetyltransferase genes and risk of Parkinson's disease.
Neurology
2003
11875758
Age at onset in two common neurodegenerative diseases is genetically controlled.
Am J Hum Genet
2002
11710888
Complete genomic screen in Parkinson disease: evidence for multiple genes.
JAMA
2001
11344308
Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa.
Proc Natl Acad Sci U S A
2001
11710889
Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease.
JAMA
2001
10431244
Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism.
Nat Genet
1999
9628816
Construction of a high-resolution physical and transcription map of chromosome 16q24.3: a region of frequent loss of heterozygosity in sporadic breast cancer.
Genomics
1998
9452030
Exon 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 Mutat
1998
8986283
VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): mutation in the FAC gene.
Am J Med Genet
1997
9272737
Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance.
Eur J Hum Genet
1997
9169126
The genomic organization of the Fanconi anemia group A (FAA) gene.
Genomics
1997
8844212
Novel mutations and polymorphisms in the Fanconi anemia group C gene.
Hum Mutat
1996
8757521
Fanconi's anaemia presenting as acute myeloid leukaemia in adulthood.
Br J Haematol
1996
7581462
Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3.
Nat Genet
1995
7853372
Genetic mapping of the FACC gene and linkage analysis in Fanconi anaemia families.
J Med Genet
1994
8128956
Mutation analysis of the Fanconi anemia gene FACC.
Am J Hum Genet
1994
7689011
A nonsense mutation and exon skipping in the Fanconi anaemia group C gene.
Hum Mol Genet
1993
7902167
EcoRI RFLP in the Fanconi anaemia complementation group C gene (FACC).
Hum Mol Genet
1993
8103176
FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia.
Lancet
1993
8348157
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.
Nat Genet
1993
1 - 50 of 52
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