C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis

Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions

(2015) Rohini Raman et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype

(2014) Johnathan Cooper-Knock et al.   ACTA NEUROPATHOLOGICA

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

(2014) Johnathan Cooper-Knock et al.   BRAIN

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations

(2013) Ian R. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Protein aggregation in amyotrophic lateral sclerosis

(2013) Anna M. Blokhuis et al.   ACTA NEUROPATHOLOGICA

C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci

(2013) Sarah Mizielinska et al.   ACTA NEUROPATHOLOGICA

hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

(2013) Kohji Mori et al.   ACTA NEUROPATHOLOGICA

Endoplasmic reticulum stress impairs cholesterol efflux and synthesis in hepatic cells

(2013) Clemens Röhrl et al.   JOURNAL OF LIPID RESEARCH

Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation

(2013) Vladimir L Buchman et al.   Molecular Neurodegeneration

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

(2013) Peter E.A. Ash et al.   NEURON

RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention

(2013) Christopher J. Donnelly et al.   NEURON

Redox Regulation in Amyotrophic Lateral Sclerosis

(2013) Sonam Parakh et al.   Oxidative Medicine and Cellular Longevity

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

(2013) C. Lagier-Tourenne et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion

(2013) D. Sareen et al.   Science Translational Medicine

Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

(2013) Youn-Bok Lee et al.   Cell Reports

Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions ofC9ORF72

(2012) Azza Ismail et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Gene expression profiling in human neurodegenerative disease

(2012) Johnathan Cooper-Knock et al.   Nature Reviews Neurology

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Transcriptome instability in colorectal cancer identified by exon microarray analyses: Associations with splicing factor expression levels and patient survival

(2011) Anita Sveen et al.   Genome Medicine

ALS disease onset may occur later in patients with pre-morbid diabetes mellitus

(2010) A. Jawaid et al.   EUROPEAN JOURNAL OF NEUROLOGY

Evidence of endoplasmic reticular stress in the spinal motor neurons exposed to CSF from sporadic amyotrophic lateral sclerosis patients

(2010) K. Vijayalakshmi et al.   NEUROBIOLOGY OF DISEASE

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Noisy Splicing Drives mRNA Isoform Diversity in Human Cells

(2010) Joseph K. Pickrell et al.   PLoS Genetics

puma: a Bioconductor package for propagating uncertainty in microarray analysis

(2009) Richard D Pearson et al.   BMC BIOINFORMATICS

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

Neural cell cycle dysregulation and central nervous system diseases

(2009) Wei Wang et al.   PROGRESS IN NEUROBIOLOGY

FIRMA: a method for detection of alternative splicing from exon array data

(2008) E. Purdom et al.   BIOINFORMATICS

WGCNA: an R package for weighted correlation network analysis

(2008) Peter Langfelder et al.   BMC BIOINFORMATICS

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

(2008) Da Wei Huang et al.   NUCLEIC ACIDS RESEARCH