Related references
Note: Only part of the references are listed.Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes
Jack Humphrey et al.
NATURE NEUROSCIENCE (2023)
MutationalPatterns: the one stop shop for the analysis of mutational processes
Freek Manders et al.
BMC GENOMICS (2022)
Meta-analysis of human and mouse ALS astrocytes reveals multi-omic signatures of inflammatory reactive states
Oliver J. Ziff et al.
GENOME RESEARCH (2022)
Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines
Emily G. Baxi et al.
NATURE NEUROSCIENCE (2022)
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
Anna-Leigh Brown et al.
NATURE (2022)
DNA Damage, Defective DNA Repair, and Neurodegeneration in Amyotrophic Lateral Sclerosis
Anna Konopka et al.
FRONTIERS IN AGING NEUROSCIENCE (2022)
Upregulation of B-catenin due to loss of miR-139 contributes to motor neuron death in amyotrophic lateral sclerosis
Sophie Hawkins et al.
STEM CELL REPORTS (2022)
The impact of age on genetic testing decisions in amyotrophic lateral sclerosis
Puja R. Mehta et al.
BRAIN (2022)
p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR)
Maya Maor-Nof et al.
CELL (2021)
Improving clinical trial outcomes in amyotrophic lateral sclerosis
Matthew C. Kiernan et al.
NATURE REVIEWS NEUROLOGY (2021)
Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types
Sara Saez-Atienzar et al.
SCIENCE ADVANCES (2021)
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Wouter van Rheenen et al.
NATURE GENETICS (2021)
Multi-omic analysis of selectively vulnerable motor neuron subtypes implicates altered lipid metabolism in ALS
Hojae Lee et al.
NATURE NEUROSCIENCE (2021)
Value of systematic genetic screening of patients with amyotrophic lateral sclerosis
Stephanie R. Shepheard et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2021)
Age-dependent instability of mature neuronal fate in induced neurons from Alzheimer's patients
Jerome Mertens et al.
CELL STEM CELL (2021)
DNA Damage and Repair Deficiency in ALS/FTD-Associated Neurodegeneration: From Molecular Mechanisms to Therapeutic Implication
Haibo Wang et al.
FRONTIERS IN MOLECULAR NEUROSCIENCE (2021)
Human Induced Pluripotent Stem Cell-Derived TDP-43 Mutant Neurons Exhibit Consistent Functional Phenotypes Across Multiple Gene Edited Lines Despite Transcriptomic and Splicing Discrepancies
Alec S. T. Smith et al.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)
An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients
Jonathan Li et al.
ISCIENCE (2021)
TDP-43 prevents endogenous RNAs from triggering a lethal RIG-I-dependent interferon response
William Dunker et al.
CELL REPORTS (2021)
The Potential of Induced Pluripotent Stem Cells to Test Gene Therapy Approaches for Neuromuscular and Motor Neuron Disorders
Marisa Cappella et al.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)
Single-cell transcriptome profiling of the human developing spinal cord reveals a conserved genetic programme with human-specific features
Teresa Rayon et al.
DEVELOPMENT (2021)
Synaptic disruption and CREB-regulated transcription are restored by K+ channel blockers in ALS
Alberto Catanese et al.
EMBO MOLECULAR MEDICINE (2021)
Mini-Review: Induced pluripotent stem cells and the search for new cell-specific ALS therapeutic targets
Laura Ferraiuolo et al.
NEUROSCIENCE LETTERS (2021)
MOCCASIN: a method for correcting for known and unknown confounders in RNA splicing analysis
Barry Slaff et al.
NATURE COMMUNICATIONS (2021)
Poly-glycine-alanine exacerbates C9orf72 repeat expansion-mediated DNA damage via sequestration of phosphorylated ATM and loss of nuclear hnRNPA3
Yoshihiro Nihei et al.
ACTA NEUROPATHOLOGICA (2020)
The nf-core framework for community-curated bioinformatics pipelines
Philip A. Ewels et al.
NATURE BIOTECHNOLOGY (2020)
Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins
Masin Abo-Rady et al.
STEM CELL REPORTS (2020)
Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD
Ruxandra Dafinca et al.
STEM CELL REPORTS (2020)
Review Induced Pluripotent Stem Cell (iPSC)-Based Neurodegenerative Disease Models for Phenotype Recapitulation and Drug Screening
Chia-Yu Chang et al.
MOLECULES (2020)
Motor cortex transcriptome reveals microglial key events in amyotrophic lateral sclerosis
Oriol Dols-Icardo et al.
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION (2020)
TDP-43 Triggers Mitochondrial DNA Release via mPTP to Activate cGAS/STING in ALS
Chien-Hsiung Yu et al.
CELL (2020)
The role of DNA damage response in amyotrophic lateral sclerosis
Yu Sun et al.
GUARDIANS OF THE GENOME: DNA DAMAGE AND REPAIR (2020)
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia
Mercedes Prudencio et al.
JOURNAL OF CLINICAL INVESTIGATION (2020)
Motor neuron disease-associated loss of nuclear TDP-43 is linked to DNA double-strand break repair defects
Joy Mitra et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2019)
Spatiotemporal dynamics of molecular pathology in amyotrophic lateral sclerosis
Silas Maniatis et al.
SCIENCE (2019)
Loss of Nuclear TDP-43 Is Associated with Decondensation of LINE Retrotransposons
Elaine Y. Liu et al.
CELL REPORTS (2019)
Lifetime Risk and Heritability of Amyotrophic Lateral Sclerosis
Marie Ryan et al.
JAMA NEUROLOGY (2019)
Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia
Oliver H. Tam et al.
CELL REPORTS (2019)
ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair
Joseph R. Klim et al.
NATURE NEUROSCIENCE (2019)
Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration
Ze'ev Melamed et al.
NATURE NEUROSCIENCE (2019)
Pleiotropic requirements for human TDP-43 in the regulation of cell and organelle homeostasis
Agnes Roczniak-Ferguson et al.
LIFE SCIENCE ALLIANCE (2019)
Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods
Brian J. Haas et al.
GENOME BIOLOGY (2019)
Perturbation-response genes reveal signaling footprints in cancer gene expression
Michael Schubert et al.
NATURE COMMUNICATIONS (2018)
Intron retention and nuclear loss of SFPQ are molecular hallmarks of ALS
Raphaelle Luisier et al.
NATURE COMMUNICATIONS (2018)
TDP-43 induces p53-mediated cell death of cortical progenitors and immature neurons
Miriam A. Vogt et al.
SCIENTIFIC REPORTS (2018)
Gene discovery in amyotrophic lateral sclerosis: implications for clinical management
Ammar Al-Chalabi et al.
NATURE REVIEWS NEUROLOGY (2017)
The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis
Manal A. Farg et al.
HUMAN MOLECULAR GENETICS (2017)
Chronic oxidative damage together with genome repair deficiency in the neurons is a double whammy for neurodegeneration: Is damage response signaling a potential therapeutic target?
Haibo Wang et al.
MECHANISMS OF AGEING AND DEVELOPMENT (2017)
C9orf72 expansion disrupts ATM-mediated chromosomal break repair
Callum Walker et al.
NATURE NEUROSCIENCE (2017)
Major hnRNP proteins act as general TDP-43 functional modifiers both in Drosophila and human neuronal cells
Chiara Appocher et al.
NUCLEIC ACIDS RESEARCH (2017)
CRISPR/Cas9-mediated targeted gene correction in amyotrophic lateral sclerosis patient iPSCs
Lixia Wang et al.
PROTEIN & CELL (2017)
FUS Mutant Human Motoneurons Display Altered Transcriptome and microRNA Pathways with Implications for ALS Pathogenesis
Riccardo De Santis et al.
STEM CELL REPORTS (2017)
Genetic Correction of SOD1 Mutant iPSCs Reveals ERK and JNK Activated AP1 as a Driver of Neurodegeneration in Amyotrophic Lateral Sclerosis
Akshay Bhinge et al.
STEM CELL REPORTS (2017)
Massive transcriptome sequencing of human spinal cord tissues provides new insights into motor neuron degeneration in ALS
Anna Maria D'Erchia et al.
SCIENTIFIC REPORTS (2017)
Putting p53 in Context
Edward R. Kastenhuber et al.
CELL (2017)
Modeling ALS with motor neurons derived from human induced pluripotent stem cells
Samuel Sances et al.
NATURE NEUROSCIENCE (2016)
Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons
Rodrigo Lopez-Gonzalez et al.
NEURON (2016)
Two familial ALS proteins function in prevention/repair of transcription-associated DNA damage
Sarah J. Hill et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
Distinct and shared functions of ALS-associated proteins TDP-43, FUS and TAF15 revealed by multisystem analyses
Katannya Kapeli et al.
NATURE COMMUNICATIONS (2016)
A new view of transcriptome complexity and regulation through the lens of local splicing variations
Jorge Vaquero-Garcia et al.
ELIFE (2016)
RNAseq Analyses Identify Tumor Necrosis Factor-Mediated Inflammation as a Major Abnormality in ALS Spinal Cord
David G. Brohawn et al.
PLOS ONE (2016)
The interplay between DNA damage response and RNA processing: the unexpected role of splicing factors as gatekeepers of genome stability
Chiara Naro et al.
FRONTIERS IN GENETICS (2015)
Pathways Disrupted in Human ALS Motor Neurons Identified through Genetic Correction of Mutant SOD1
Evangelos Kiskinis et al.
CELL STEM CELL (2014)
Integrative transcriptome sequencing identifies trans-splicing events with important roles in human embryonic stem cell pluripotency
Chan-Shuo Wu et al.
GENOME RESEARCH (2014)
Normalization of RNA-seq data using factor analysis of control genes or samples
Davide Risso et al.
NATURE BIOTECHNOLOGY (2014)
Sequencing Degraded RNA Addressed by 3′ Tag Counting
Benjamin Sigurgeirsson et al.
PLOS ONE (2014)
Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2
Michael I. Love et al.
GENOME BIOLOGY (2014)
The epidemiology of ALS: a conspiracy of genes, environment and time
Ammar Al-Chalabi et al.
NATURE REVIEWS NEUROLOGY (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)
Insights into the regulation of protein abundance from proteomic and transcriptomic analyses
Christine Vogel et al.
NATURE REVIEWS GENETICS (2012)
Overexpression of TDP-43 causes partially p53-dependent G2/M arrest and p53-independent cell death in HeLa cells
Kikyo Lee et al.
NEUROSCIENCE LETTERS (2012)
Role of Cell Cycle Re-Entry in Neurons: A Common Apoptotic Mechanism of Neuronal Cell Death
Jaume Folch et al.
NEUROTOXICITY RESEARCH (2012)
Alteration of POLDIP3 Splicing Associated with Loss of Function of TDP-43 in Tissues Affected with ALS
Atsushi Shiga et al.
PLOS ONE (2012)
Somatic coding mutations in human induced pluripotent stem cells
Athurva Gore et al.
NATURE (2011)
Death receptor signalling in central nervous system inflammation and demyelination
Conor Mc Guire et al.
TRENDS IN NEUROSCIENCES (2011)
An estimate of amyotrophic lateral sclerosis heritability using twin data
A. Al-Chalabi et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2010)
Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
Caroline Vance et al.
SCIENCE (2009)
Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations
Ian R. A. Mackenzie et al.
ANNALS OF NEUROLOGY (2007)
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Manuela Neumann et al.
SCIENCE (2006)
Gene expression profile of spinal motor neurons in sporadic amyotrophic lateral sclerosis
YM Jiang et al.
ANNALS OF NEUROLOGY (2005)
p53 is abnormally elevated and active in the CNS of patients with amyotrophic lateral sclerosis
LJ Martin
NEUROBIOLOGY OF DISEASE (2000)
Share Paper
