C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD

Fragile X syndrome due to a missense mutation

(2014) Leila K Myrick et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

Promoter-Bound Trinucleotide Repeat mRNA Drives Epigenetic Silencing in Fragile X Syndrome

(2014) D. Colak et al.   SCIENCE

Modelling C9ORF72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis and frontotemporal dementia

(2013) Alan Stepto et al.   ACTA NEUROPATHOLOGICA

The neuropathology associated with repeat expansions in the C9ORF72 gene

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

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

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

Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72

(2013) Melissa E. Murray et al.   ACTA NEUROPATHOLOGICA

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

(2013) Pietro Fratta 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

Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

(2013) Veronique V. Belzil et al.   ACTA NEUROPATHOLOGICA

Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

(2013) Sandra Almeida et al.   ACTA NEUROPATHOLOGICA

Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion

(2013) Zhengrui Xi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Repeat-associated non-ATG (RAN) translation in neurological disease

(2013) J. D. Cleary et al.   HUMAN MOLECULAR GENETICS

The Disease-associated r(GGGGCC)nRepeat from theC9orf72Gene Forms Tract Length-dependent Uni- and Multimolecular RNA G-quadruplex Structures

(2013) Kaalak Reddy et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Stress granules as crucibles of ALS pathogenesis

(2013) Yun R. Li et al.   JOURNAL OF CELL BIOLOGY

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

(2013) Marka van Blitterswijk et al.   LANCET NEUROLOGY

Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis

(2013) Matthew B. Harms et al.   NEUROBIOLOGY OF AGING

C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles

(2013) J. Cooper-Knock et al.   NEUROLOGY

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

Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

(2013) Shuo-Chien Ling et al.   NEURON

Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration

(2013) Z. Xu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

C9orf72 Hexanucleotide Repeat Expansions in Clinical Alzheimer Disease

(2013) Matthew Harms et al.   JAMA Neurology

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

(2012) A. Chio et al.   BRAIN

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p

(2012) G.-Y. R. Hsiung et al.   BRAIN

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72

(2012) Johnathan Cooper-Knock et al.   BRAIN

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

(2012) J. S. Snowden et al.   BRAIN

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

(2012) Javier Simón-Sánchez et al.   BRAIN

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

(2012) Bradley F. Boeve et al.   BRAIN

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

(2012) C. J. Mahoney et al.   BRAIN

Atypical, slowly progressive behavioural variant frontotemporal dementia associated withC9ORF72hexanucleotide expansion

(2012) Baber K Khan et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

ENCODE Data in the UCSC Genome Browser: year 5 update

(2012) Kate R. Rosenbloom et al.   NUCLEIC ACIDS RESEARCH

FXN methylation predicts expression and clinical outcome in Friedreich ataxia

(2011) Marguerite V. Evans-Galea et al.   ANNALS OF NEUROLOGY

A nonsense mutation in FMR1 causing fragile X syndrome

(2011) Karen Grønskov et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males

(2010) Stephen C. Collins et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome–Like Phenotype

(2010) Stephen C. Collins et al.   PLoS One

Developmental programming of CpG island methylation profiles in the human genome

(2009) Ravid Straussman et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Instability and chromatin structure of expanded trinucleotide repeats

(2009) Vincent Dion et al.   TRENDS IN GENETICS