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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional studyNeuronal dark matter: the emerging role of microRNAs in neurodegenerationComparison of blood RNA extraction methods used for gene expression profiling in amyotrophic lateral sclerosis.Analysis of the cytosolic proteome in a cell culture model of familial amyotrophic lateral sclerosis reveals alterations to the proteasome, antioxidant defenses, and nitric oxide synthetic pathways.Impairment of mitochondrial anti-oxidant defence in SOD1-related motor neuron injury and amelioration by ebselen.Microarray analysis of the cellular pathways involved in the adaptation to and progression of motor neuron injury in the SOD1 G93A mouse model of familial ALS.Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansionsPhosphatase and tensin homologue/protein kinase B pathway linked to motor neuron survival in human superoxide dismutase 1-related amyotrophic lateral sclerosis.SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits.The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.Unravelling the enigma of selective vulnerability in neurodegeneration: motor neurons resistant to degeneration in ALS show distinct gene expression characteristics and decreased susceptibility to excitotoxicity.Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisationS[+] Apomorphine is a CNS penetrating activator of the Nrf2-ARE pathway with activity in mouse and patient fibroblast models of amyotrophic lateral sclerosisGene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functionsLoss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones.The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral SclerosisAntisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.Lysosomal and phagocytic activity is increased in astrocytes during disease progression in the SOD1 (G93A) mouse model of amyotrophic lateral sclerosis.The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutationC9ORF72 transcription in a frontotemporal dementia case with two expanded alleles.Investigating cell death mechanisms in amyotrophic lateral sclerosis using transcriptomics.C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study.TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions.Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis.Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology.Gene expression profiling in human neurodegenerative disease.Invited review: decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art.Mutant SOD1 alters the motor neuronal transcriptome: implications for familial ALS.Dysregulation of astrocyte-motoneuron cross-talk in mutant superoxide dismutase 1-related amyotrophic lateral sclerosis.ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN.Differential gene expression in a cell culture model of SOD1-related familial motor neurone disease.Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72.Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis.Brain iron dysregulation and the risk of ageing white matter lesions.HFE H63D, C282Y and AGTR1 A1166C polymorphisms and brain white matter lesions in the aging brain.Motor neurone disease/amyotrophic lateral sclerosis associated with intermediate-length CAG repeat expansions in Ataxin-2 does not have 1C2-positive polyglutamine inclusions.
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P50
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P106
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8927793400
P2031
2002-01-01T00:00:00Z
P21
P31
P496
0000-0002-7468-5917