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Patrick Vourc'h et al.
NEUROBIOLOGY OF AGING (2021)
C9orf72 hexanucleotide repeat expansion in Indian patients with ALS: a common founder and its geographical predilection
Uzma Shamim et al.
NEUROBIOLOGY OF AGING (2020)
Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72
Qiang Zhu et al.
NATURE NEUROSCIENCE (2020)
A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease
Chris Kay et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Human iPSC-derived astrocytes from ALS patients with mutated C9ORF72 show increased oxidative stress and neurotoxicity
Anastasya Birger et al.
EBioMedicine (2019)
Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons
Yingxiao Shi et al.
NATURE MEDICINE (2018)
High frequency of C9orf72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis patients from two founder populations sharing the same risk haplotype
Orly Goldstein et al.
NEUROBIOLOGY OF AGING (2018)
Intron retention induced by microsatellite expansions as a disease biomarker
Lukasz J. Sznajder et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers
Petra Frick et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2018)
Widespread intra-dependencies in the removal of introns from human transcripts
Seong Won Kim et al.
NUCLEIC ACIDS RESEARCH (2017)
Dysregulated molecular pathways in amyotrophic lateral sclerosis-frontotemporal dementia spectrum disorder
Fen-Biao Gao et al.
EMBO JOURNAL (2017)
Global identification of hnRNP A1 binding sites for SSO-based splicing modulation
Gitte H. Bruun et al.
BMC BIOLOGY (2016)
C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons
Rajeeve Sivadasan et al.
NATURE NEUROSCIENCE (2016)
Large C9orf72 repeat expansions are seen in Chinese patients with sporadic amyotrophic lateral sclerosis
Yongping Chen et al.
NEUROBIOLOGY OF AGING (2016)
Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs
Jie Jiang et al.
NEURON (2016)
Methylation of C9orf72 expansion reduces RNA foci formation and dipeptide-repeat proteins expression in cells
Peter O. Bauer
NEUROSCIENCE LETTERS (2016)
C9orf72 is required for proper macrophage and microglial function in mice
J. G. O'Rourke et al.
SCIENCE (2016)
Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease
Aaron Burberry et al.
SCIENCE TRANSLATIONAL MEDICINE (2016)
Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells
Yaara Cohen-Hadad et al.
STEM CELL REPORTS (2016)
The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway
Peter M. Sullivan et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2016)
The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients
Zhengrui Xi et al.
ACTA NEUROPATHOLOGICA (2015)
A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease
Priya Gami et al.
ACTA NEUROPATHOLOGICA (2015)
Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration
EunRan Suh et al.
ACTA NEUROPATHOLOGICA (2015)
Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS
Helene Tran et al.
NEURON (2015)
C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD
Elaine Y. Liu et al.
ACTA NEUROPATHOLOGICA (2014)
Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions
Johnathan Cooper-Knock et al.
BRAIN (2014)
Hypermethylation of the CpG-island near the C9orf72 G4C2-repeat expansion in FTLD patients
Zhengrui Xi et al.
HUMAN MOLECULAR GENETICS (2014)
Estimating the Inheritance of Frontotemporal Lobar Degeneration in the Italian Population
Barbara Borroni et al.
JOURNAL OF ALZHEIMERS DISEASE (2014)
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
Chizuru Akimoto et al.
JOURNAL OF MEDICAL GENETICS (2014)
C9orf72 nucleotide repeat structures initiate molecular cascades of disease
Aaron R. Haeusler et al.
NATURE (2014)
Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion
Adrian J. Waite et al.
NEUROBIOLOGY OF AGING (2014)
Allele-Specific Suppression of Mutant Huntingtin Using Antisense Oligonucleotides: Providing a Therapeutic Option for All Huntington Disease Patients
Niels H. Skotte et al.
PLOS ONE (2014)
Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons
Sandra Almeida et al.
ACTA NEUROPATHOLOGICA (2013)
Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion
Zhengrui Xi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population
Jon Beck et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder
Bradley N. Smith et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats
Julie van der Zee et al.
HUMAN MUTATION (2013)
Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72
Takuya Konno et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2013)
Association between repeat sizes and clinical and pathological characteristics in carriers of C90RF72 repeat expansions (Xpansize-72): a cross-sectional cohort study
Marka van Blitterswijk et al.
LANCET NEUROLOGY (2013)
Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS
Peter E. A. Ash et al.
NEURON (2013)
RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention
Christopher J. Donnelly et al.
NEURON (2013)
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration
Clotilde Lagier-Tourenne et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion
Dhruv Sareen et al.
SCIENCE TRANSLATIONAL MEDICINE (2013)
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Elisa Majounie et al.
LANCET NEUROLOGY (2012)
A direct characterization of human mutation based on microsatellites
James X. Sun et al.
NATURE GENETICS (2012)
Quantitative determination of allele frequency in pooled DNA by using sequencing method
Peng Cao et al.
JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES (2011)
Potent and Selective Antisense Oligonucleotides Targeting Single-Nucleotide Polymorphisms in the Huntington Disease Gene/Allele-Specific Silencing of Mutant Huntingtin
Jeffrey B. Carroll et al.
MOLECULAR THERAPY (2011)
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
Mariely DeJesus-Hernandez et al.
NEURON (2011)
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Alan E. Renton et al.
NEURON (2011)
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study
Hannu Laaksovirta et al.
LANCET NEUROLOGY (2010)
The genome-wide determinants of human and chimpanzee microsatellite evolution
Yogeshwar D. Kelkar et al.
GENOME RESEARCH (2008)
Rapid identification of single nucleotide polymorphisms and estimation of allele frequencies using sequence traces from DNA pools
X. Ye et al.
POULTRY SCIENCE (2006)
Fluorescent dye terminator sequencing methods for quantitative determination of replication fitness of human immunodeficiency virus type 1 containing the codon 74 and 184 mutations in reverse transcriptase
V Nurpeisov et al.
JOURNAL OF CLINICAL MICROBIOLOGY (2003)
Predictive identification of exonic splicing enhancers in human genes
WG Fairbrother et al.
SCIENCE (2002)
Genetic factors in the early diagnosis of ALS
PM Andersen
AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS (2000)
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