Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers

(2020) Jazmyne L. Jackson et al.   Molecular Neurodegeneration

Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD

(2020) Ruxandra Dafinca et al.   Stem Cell Reports

ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair

(2019) Joseph R. Klim et al.   NATURE NEUROSCIENCE

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration

(2019) Ze’ev Melamed et al.   NATURE NEUROSCIENCE

CRISPR Interference-Based Platform for Multimodal Genetic Screens in Human iPSC-Derived Neurons

(2019) Ruilin Tian et al.   NEURON

The landscape of multiscale transcriptomic networks and key regulators in Parkinson’s disease

(2019) Qian Wang et al.   Nature Communications

Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia

(2019) Oliver H. Tam et al.   Cell Reports

Corticobasal degeneration with TDP-43 pathology presenting with progressive supranuclear palsy syndrome: a distinct clinicopathologic subtype

(2018) Shunsuke Koga et al.   ACTA NEUROPATHOLOGICA

OUP accepted manuscript

(2018)   BIOINFORMATICS

Mice with endogenous TDP‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis

(2018) Pietro Fratta et al.   EMBO JOURNAL

Towards a TDP-43-Based Biomarker for ALS and FTLD

(2018) Emily Feneberg et al.   MOLECULAR NEUROBIOLOGY

Neurons selectively targeted in frontotemporal dementia reveal early stage TDP-43 pathobiology

(2018) Alissa L. Nana et al.   ACTA NEUROPATHOLOGICA

Review: Neuropathology of non-tau frontotemporal lobar degeneration

(2018) M. Neumann et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

GENCODE reference annotation for the human and mouse genomes

(2018) Adam Frankish et al.   NUCLEIC ACIDS RESEARCH

Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients

(2017) Mercedes Prudencio et al.   HUMAN MOLECULAR GENETICS

Rates of hippocampal atrophy and presence of post-mortem TDP-43 in patients with Alzheimer's disease: a longitudinal retrospective study

(2017) Keith A Josephs et al.   LANCET NEUROLOGY

Tdp-43 cryptic exons are highly variable between cell types

(2017) Yun Ha Jeong et al.   Molecular Neurodegeneration

Nextflow enables reproducible computational workflows

(2017) Paolo Di Tommaso et al.   NATURE BIOTECHNOLOGY

Annotation-free quantification of RNA splicing using LeafCutter

(2017) Yang I. Li et al.   NATURE GENETICS

qSVA framework for RNA quality correction in differential expression analysis

(2017) Andrew E. Jaffe et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MultiQC: summarize analysis results for multiple tools and samples in a single report

(2016) Philip Ewels et al.   BIOINFORMATICS

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

(2016) Jie Jiang et al.   NEURON

TAR DNA-binding protein 43 and pathological subtype of Alzheimer's disease impact clinical features

(2015) Keith A. Josephs et al.   ANNALS OF NEUROLOGY

Frontotemporal dementia

(2015) Jee Bang et al.   LANCET

TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD

(2015) J. P. Ling et al.   SCIENCE

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

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

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

featureCounts: an efficient general purpose program for assigning sequence reads to genomic features

(2013) Y. Liao et al.   BIOINFORMATICS

Dynamic regulation of SCG10 in regenerating axons after injury

(2013) Jung Eun Shin et al.   EXPERIMENTAL NEUROLOGY

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

(2013) Shuo-Chien Ling et al.   NEURON

Classification of FTLD-TDP cases into pathological subtypes using antibodies against phosphorylated and non-phosphorylated TDP43

(2013) Rachel H Tan et al.   Acta Neuropathologica Communications

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Snakemake--a scalable bioinformatics workflow engine

(2012) J. Koster et al.   BIOINFORMATICS

Neuropathological background of phenotypical variability in frontotemporal dementia

(2011) Keith A. Josephs et al.   ACTA NEUROPATHOLOGICA

A harmonized classification system for FTLD-TDP pathology

(2011) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome

(2011) Bo Li et al.   BMC BIOINFORMATICS

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43

(2011) Magdalini Polymenidou et al.   NATURE NEUROSCIENCE

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43

(2011) James R Tollervey et al.   NATURE NEUROSCIENCE

Analysis and design of RNA sequencing experiments for identifying isoform regulation

(2010) Yarden Katz et al.   NATURE METHODS

Evaluation of subcortical pathology and clinical correlations in FTLD-U subtypes

(2009) Keith A. Josephs et al.   ACTA NEUROPATHOLOGICA

Phosphorylated TDP-43 in Alzheimer’s disease and dementia with Lewy bodies

(2009) Tetsuaki Arai et al.   ACTA NEUROPATHOLOGICA

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

(2009) M. D. Robinson et al.   BIOINFORMATICS

Mutation withinTARDBPleads to Frontotemporal Dementia without motor neuron disease

(2009) B. Borroni et al.   HUMAN MUTATION

Regional distribution of TDP-43 inclusions in Alzheimer disease (AD) brains: Their relation to AD common pathology

(2009) Ai Kadokura et al.   NEUROPATHOLOGY

Phosphorylation-dependent TDP-43 antibody detects intraneuronal dot-like structures showing morphological characters of granulovacuolar degeneration

(2009) Ai Kadokura et al.   NEUROSCIENCE LETTERS

Temporal lobar predominance of TDP-43 neuronal cytoplasmic inclusions in Alzheimer disease

(2008) William T. Hu et al.   ACTA NEUROPATHOLOGICA

TAR DNA-Binding Protein 43 Immunohistochemistry Reveals Extensive Neuritic Pathology in FTLD-U: A Midwest-Southwest Consortium for FTLD Study

(2008) Kimmo J. Hatanpaa et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Concomitant TAR-DNA-Binding Protein 43 Pathology Is Present in Alzheimer Disease and Corticobasal Degeneration but Not in Other Tauopathies

(2008) Kunihiro Uryu et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Abnormal TDP-43 immunoreactivity in AD modifies clinicopathologic and radiologic phenotype

(2008) K. A. Josephs et al.   NEUROLOGY

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE