Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes

Genetic analysis of the human microglial transcriptome across brain regions, aging and disease pathologies

(2022) Katia de Paiva Lopes et al.   NATURE GENETICS

Integration of Alzheimer’s disease genetics and myeloid genomics identifies disease risk regulatory elements and genes

(2021) Gloriia Novikova et al.   Nature Communications

A map of transcriptional heterogeneity and regulatory variation in human microglia

(2021) Adam M. H. Young et al.   NATURE GENETICS

Publisher Correction: Altered perivascular fibroblast activity precedes ALS disease onset

(2021) Anna Månberg et al.   NATURE MEDICINE

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

(2021) Wouter van Rheenen et al.   NATURE GENETICS

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(2021) Shuangbin Xu et al.   Frontiers in Genetics

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

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(2020) Timothy A. Myers et al.   Frontiers in Genetics

Disease-associated astrocytes in Alzheimer’s disease and aging

(2020) Naomi Habib et al.   NATURE NEUROSCIENCE

Spatial Transcriptomics and In Situ Sequencing to Study Alzheimer’s Disease

(2020) Wei-Ting Chen et al.   CELL

Chitotriosidase, a biomarker of amyotrophic lateral sclerosis, accentuates neurodegeneration in spinal motor neurons through neuroinflammation

(2020) Anu Mary Varghese et al.   Journal of Neuroinflammation

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(2020) Jorge Oscanoa et al.   NUCLEIC ACIDS RESEARCH

Knockout of reactive astrocyte activating factors slows disease progression in an ALS mouse model

(2020) Kevin A. Guttenplan et al.   Nature Communications

Global alterations to the choroid plexus blood-CSF barrier in amyotrophic lateral sclerosis

(2020) J. Saul et al.   Acta Neuropathologica Communications

Motor cortex transcriptome reveals microglial key events in amyotrophic lateral sclerosis

(2020) Oriol Dols-Icardo et al.   Neurology-Neuroimmunology & Neuroinflammation

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

(2020) Mercedes Prudencio et al.   JOURNAL OF CLINICAL INVESTIGATION

Cell type–specific genetic regulation of gene expression across human tissues

(2020) Sarah Kim-Hellmuth et al.   SCIENCE

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3

(2020) Mercedes Prudencio et al.   Science Translational Medicine

A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis

(2020) Ryoichi Nakamura et al.   Communications Biology

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

Opportunities and challenges for transcriptome-wide association studies

(2019) Michael Wainberg et al.   NATURE GENETICS

ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions

(2019) Egor Dolzhenko et al.   BIOINFORMATICS

Single-cell transcriptomic analysis of Alzheimer’s disease

(2019) Hansruedi Mathys et al.   NATURE

Proteomics in cerebrospinal fluid and spinal cord suggests UCHL1, MAP2 and GPNMB as biomarkers and underpins importance of transcriptional pathways in amyotrophic lateral sclerosis

(2019) Patrick Oeckl et al.   ACTA NEUROPATHOLOGICA

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

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

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

(2019) Dennis W. Dickson et al.   Acta Neuropathologica Communications

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

(2019) Mike A Nalls et al.   LANCET NEUROLOGY

Cerebrospinal fluid macrophage biomarkers in amyotrophic lateral sclerosis

(2018) Alexander G. Thompson et al.   ANNALS OF NEUROLOGY

ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis

(2018) Serena Lattante et al.   NEUROBIOLOGY OF AGING

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

(2018) Aude Nicolas et al.   NEURON

Variation among intact tissue samples reveals the core transcriptional features of human CNS cell classes

(2018) Kevin W. Kelley et al.   NATURE NEUROSCIENCE

dtangle: accurate and robust cell type deconvolution

(2018) Gregory J Hunt et al.   BIOINFORMATICS

Glycoprotein NMB: a novel Alzheimer’s disease associated marker expressed in a subset of activated microglia

(2018) Melanie Hüttenrauch et al.   Acta Neuropathologica Communications

Neurotoxic reactive astrocytes are induced by activated microglia

(2017) Shane A. Liddelow et al.   NATURE

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(2017) Paolo Di Tommaso et al.   NATURE BIOTECHNOLOGY

Annotation-free quantification of RNA splicing using LeafCutter

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

Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson’s disease on chromosome 7p15.3

(2017) Megha N. Murthy et al.   NEUROGENETICS

Massive transcriptome sequencing of human spinal cord tissues provides new insights into motor neuron degeneration in ALS

(2017) Anna Maria D’Erchia et al.   Scientific Reports

Peripheral monocytes are functionally altered and invade the CNS in ALS patients

(2016) Lisa Zondler et al.   ACTA NEUROPATHOLOGICA

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(2016) Philip Ewels et al.   BIOINFORMATICS

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(2016) Gabriel E. Hoffman et al.   BMC BIOINFORMATICS

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

(2016) Kevin P Kenna et al.   NATURE GENETICS

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

(2016) Wouter van Rheenen et al.   NATURE GENETICS

C9orf72 is required for proper macrophage and microglial function in mice

(2016) J. G. ORourke et al.   SCIENCE

Identification of Vulnerable Cell Types in Major Brain Disorders Using Single Cell Transcriptomes and Expression Weighted Cell Type Enrichment

(2016) Nathan G. Skene et al.   Frontiers in Neuroscience

RNAseq Analyses Identify Tumor Necrosis Factor-Mediated Inflammation as a Major Abnormality in ALS Spinal Cord

(2016) David G. Brohawn et al.   PLoS One

Chitotriosidase and lysosomal enzymes as potential biomarkers of disease progression in amyotrophic lateral sclerosis: A survey clinic-based study

(2015) Veronica Pagliardini et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

(2015) Mercedes Prudencio et al.   NATURE NEUROSCIENCE

A survey of human brain transcriptome diversity at the single cell level

(2015) Spyros Darmanis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

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(2015) Arthur Liberzon et al.   Cell Systems

Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics

(2014) Claudia Giambartolomei et al.   PLoS Genetics

Degeneration and impaired regeneration of gray matter oligodendrocytes in amyotrophic lateral sclerosis

(2013) Shin H Kang et al.   NATURE NEUROSCIENCE

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(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Intricate interplay between astrocytes and motor neurons in ALS

(2013) H. P. Phatnani et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Neurodegeneration-Specific Gene-Expression Signature of Acutely Isolated Microglia from an Amyotrophic Lateral Sclerosis Mouse Model

(2013) Isaac M. Chiu et al.   Cell Reports

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(2012) Alexander Dobin et al.   BIOINFORMATICS

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(2012) J. Harrow et al.   GENOME RESEARCH

Genomic Analysis of Reactive Astrogliosis

(2012) J. L. Zamanian et al.   JOURNAL OF NEUROSCIENCE

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

Using probabilistic estimation of expression residuals (PEER) to obtain increased power and interpretability of gene expression analyses

(2012) Oliver Stegle et al.   Nature Protocols

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(2012) Guangchuang Yu et al.   OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY

Microglial Activation Correlates with Disease Progression and Upper Motor Neuron Clinical Symptoms in Amyotrophic Lateral Sclerosis

(2012) Johannes Brettschneider et al.   PLoS One

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(2011) Davide Risso et al.   BMC BIOINFORMATICS

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(2011) Bo Li et al.   BMC BIOINFORMATICS

Astrocytes from familial and sporadic ALS patients are toxic to motor neurons

(2011) Amanda M Haidet-Phillips et al.   NATURE BIOTECHNOLOGY

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

Axonal inclusions in spinocerebellar ataxia type 3

(2010) Kay Seidel et al.   ACTA NEUROPATHOLOGICA

Paraoxonase gene mutations in amyotrophic lateral sclerosis

(2010) Nicola Ticozzi et al.   ANNALS OF NEUROLOGY

Oxidative stress in skeletal muscle stimulates early expression of Rad in a mouse model of amyotrophic lateral sclerosis

(2010) Benoît Halter et al.   FREE RADICAL BIOLOGY AND MEDICINE

Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis

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Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

(2010) Andrew C. Elden et al.   NATURE

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(2009) H. Li et al.   BIOINFORMATICS

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

(2009) Michael A van Es et al.   NATURE GENETICS

The effect of mutant SOD1 dismutase activity on non-cell autonomous degeneration in familial amyotrophic lateral sclerosis

(2009) Lijun Wang et al.   NEUROBIOLOGY OF DISEASE

ALS motor phenotype heterogeneity, focality, and spread: Deconstructing motor neuron degeneration

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Neuron-Specific Expression of Mutant Superoxide Dismutase Is Sufficient to Induce Amyotrophic Lateral Sclerosis in Transgenic Mice

(2008) D. Jaarsma et al.   JOURNAL OF NEUROSCIENCE

Focal transplantation–based astrocyte replacement is neuroprotective in a model of motor neuron disease

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Astrocytes as determinants of disease progression in inherited amyotrophic lateral sclerosis

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