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

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

(2013) Pietro Fratta 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

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

(2013) Jon Beck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

(2013) Timothy P. Levine et al.   BIOINFORMATICS

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

(2013) Hong Joo Kim et al.   NATURE

C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment

(2013) Rita Cacace et al.   NEUROBIOLOGY OF AGING

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

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

(2013) Peter E.A. Ash 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

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

(2013) K. Mori et al.   SCIENCE

Deciphering amyotrophic lateral sclerosis: What phenotype, neuropathology and genetics are telling us about pathogenesis

(2013) John Ravits et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

C9orf72 Hexanucleotide Repeat Expansions in Clinical Alzheimer Disease

(2013) Matthew Harms et al.   JAMA Neurology

The genetics and neuropathology of amyotrophic lateral sclerosis

(2012) Ammar Al-Chalabi et al.   ACTA NEUROPATHOLOGICA

RNA-binding proteins in microsatellite expansion disorders: Mediators of RNA toxicity

(2012) Gloria V. Echeverria et al.   BRAIN RESEARCH

Induced Pluripotent Stem Cells from Patients with Huntington's Disease Show CAG-Repeat-Expansion-Associated Phenotypes

(2012) The HD iPSC Consortium   Cell Stem Cell

Cell biology of spinocerebellar ataxia

(2012) Harry T. Orr   JOURNAL OF CELL BIOLOGY

The Cbln family of proteins interact with multiple signaling pathways

(2012) Peng Wei et al.   JOURNAL OF NEUROCHEMISTRY

Targeting nuclear RNA for in vivo correction of myotonic dystrophy

(2012) Thurman M. Wheeler et al.   NATURE

Sustained Therapeutic Reversal of Huntington's Disease by Transient Repression of Huntingtin Synthesis

(2012) Holly B. Kordasiewicz et al.   NEURON

A High-Density Genome-Wide Association Screen of Sporadic ALS in US Veterans

(2012) Lydia Coulter Kwee et al.   PLoS One

Inhibition of Apoptosis Blocks Human Motor Neuron Cell Death in a Stem Cell Model of Spinal Muscular Atrophy

(2012) Dhruv Sareen et al.   PLoS One

KCNQ Channels Show Conserved Ethanol Block and Function in Ethanol Behaviour

(2012) Sonia Cavaliere et al.   PLoS One

Proteasome inhibition induces α-synuclein SUMOylation and aggregate formation

(2011) Yong Man Kim et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics

(2011) Arnulf H. Koeppen   JOURNAL OF THE NEUROLOGICAL SCIENCES

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

(2011) Ilse Gijselinck et al.   LANCET NEUROLOGY

A bioinformatic assay for pluripotency in human cells

(2011) Franz-Josef Müller et al.   NATURE METHODS

A more efficient method to generate integration-free human iPS cells

(2011) Keisuke Okita et al.   NATURE METHODS

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

Primary Central Nervous System Lymphoma

(2010) Elizabeth R. Gerstner et al.   ARCHIVES OF NEUROLOGY

A large genome scan for rare CNVs in amyotrophic lateral sclerosis

(2010) Hylke M. Blauw et al.   HUMAN MOLECULAR GENETICS

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration

(2010) C. Lagier-Tourenne et al.   HUMAN MOLECULAR GENETICS

TAR DNA-binding protein 43 in neurodegenerative disease

(2010) Alice S. Chen-Plotkin et al.   Nature Reviews Neurology

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Non-ATG-initiated translation directed by microsatellite expansions

(2010) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy

(2009) Robert J. Osborne et al.   HUMAN MOLECULAR GENETICS

Selective functional, regional, and neuronal vulnerability in frontotemporal dementia

(2008) William W Seeley   CURRENT OPINION IN NEUROLOGY

Induced pluripotent stem cells from a spinal muscular atrophy patient

(2008) Allison D. Ebert et al.   NATURE

Analyzing real-time PCR data by the comparative CT method

(2008) Thomas D Schmittgen et al.   Nature Protocols

Polyglutamine neurodegeneration: protein misfolding revisited

(2008) Aislinn J. Williams et al.   TRENDS IN NEUROSCIENCES