about
LRRK2 expression in idiopathic and G2019S positive Parkinson's disease subjects: a morphological and quantitative studyPINK1 cleavage at position A103 by the mitochondrial protease PARL.Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional studyA hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTDState of play in amyotrophic lateral sclerosis geneticsMutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosisNeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseasesThe Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data.Erratum: The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS DataC9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten.Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansionGenetic architecture of ALS in SardiniaScreening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansionClinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion.CRESTing the ALS mountainALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations.The RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients.Novel TARDBP sequence variant and C9ORF72 repeat expansion in a family with frontotemporal dementia.OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes.A genome-wide association study of myasthenia gravisATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.TBK1 is associated with ALS and ALS-FTD in Sardinian patients.A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.Hypoxia induces p53 through a pathway distinct from most DNA-damaging and stress-inducing agents.Mitochondrial dysfunction triggered by loss of HtrA2 results in the activation of a brain-specific transcriptional stress response.Exploring the epigenetics of Alzheimer disease.Differential DJ-1 gene expression in Parkinson's disease.Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulationFunctional annotation of genomic variants in studies of late-onset Alzheimer's diseaseMelatonin receptor type 1A gene linked to Alzheimer's disease in old ageCorrection: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation
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P50
description
hulumtues
@sq
researcher
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wetenschapper
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հետազոտող
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name
Alan Renton
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Alan Renton
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Alan Renton
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Alan Renton
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Alan Renton
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type
label
Alan Renton
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Alan Renton
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Alan Renton
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Alan Renton
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Alan Renton
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Alan E Renton
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Alan E. Renton
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Alan Renton
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Alan Renton
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Alan Renton
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Alan Renton
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Alan Renton
@sl
P106
P1153
25650590800
P21
P31
P496
0000-0001-6702-8268