Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3′UTR protect against ALS

Non-neuronal cells in amyotrophic lateral sclerosis — from pathogenesis to biomarkers

(2021) Björn F. Vahsen et al.   Nature Reviews Neurology

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

Neuroimmunity in amyotrophic lateral sclerosis: focus on microglia

(2020) Anca Motataianu et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Longitudinal biomarkers in amyotrophic lateral sclerosis

(2020) Fen Huang et al.   Annals of Clinical and Translational Neurology

Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene

(2020) Johnathan Cooper-Knock et al.   Cell Reports

Immune dysregulation in amyotrophic lateral sclerosis: mechanisms and emerging therapies

(2019) David R Beers et al.   LANCET NEUROLOGY

Implications of Microglia in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

(2019) Henriette Haukedal et al.   JOURNAL OF MOLECULAR BIOLOGY

UTAP: User-friendly Transcriptome Analysis Pipeline

(2019) Refael Kohen et al.   BMC BIOINFORMATICS

MARS-seq2.0: an experimental and analytical pipeline for indexed sorting combined with single-cell RNA sequencing

(2019) Hadas Keren-Shaul et al.   Nature Protocols

WebGestalt 2019: gene set analysis toolkit with revamped UIs and APIs

(2019) Yuxing Liao et al.   NUCLEIC ACIDS RESEARCH

The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

(2019) Rick A.A. van der Spek et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

(2019) Sali M. K. Farhan et al.   NATURE NEUROSCIENCE

Rare-variant collapsing analyses for complex traits: guidelines and applications

(2019) Gundula Povysil et al.   NATURE REVIEWS GENETICS

Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology

(2019) Irit Reichenstein et al.   Science Translational Medicine

Transcriptome–pathology correlation identifies interplay between TDP-43 and the expression of its kinase CK1E in sporadic ALS

(2018) Florian Krach et al.   ACTA NEUROPATHOLOGICA

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

(2018)   EUROPEAN JOURNAL OF HUMAN GENETICS

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

(2018) Yingxiao Shi et al.   NATURE MEDICINE

Inflammation in ALS/FTD pathogenesis

(2018) Madelyn E. McCauley et al.   ACTA NEUROPATHOLOGICA

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

(2018) Joon-Yong An et al.   SCIENCE

Microglia and C9orf72 in neuroinflammation and ALS and frontotemporal dementia

(2017) Deepti Lall et al.   JOURNAL OF CLINICAL INVESTIGATION

MicroRNA Profiling Reveals Marker of Motor Neuron Disease in ALS Models

(2017) Mariah L. Hoye et al.   JOURNAL OF NEUROSCIENCE

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

(2017) Rebecca Sims et al.   NATURE GENETICS

Amyotrophic Lateral Sclerosis

(2017) Robert H. Brown et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Highly Efficient Human Pluripotent Stem Cell Microglia Model Displays a Neuronal-Co-culture-Specific Expression Profile and Inflammatory Response

(2017) Walther Haenseler et al.   Stem Cell Reports

ALS Along the Axons – Expression of Coding and Noncoding RNA Differs in Axons of ALS models

(2017) Nimrod Rotem et al.   Scientific Reports

RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data: Table 1.

(2016) Xiaowei Zhan et al.   BIOINFORMATICS

Vulnerability of microRNA biogenesis in FTD–ALS

(2016) Chen Eitan et al.   BRAIN RESEARCH

In-situ expression of Interleukin-18 and associated mediators in the human brain of sALS patients: Hypothesis for a role for immune-inflammatory mechanisms

(2016) Hazim Kadhim et al.   MEDICAL HYPOTHESES

Expression of microRNAs in human post-mortem amyotrophic lateral sclerosis spinal cords provides insight into disease mechanisms

(2016) Claudia Figueroa-Romero et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

Optimized sgRNA design to maximize activity and minimize off-target effects of CRISPR-Cas9

(2016) John G Doench et al.   NATURE BIOTECHNOLOGY

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

(2016) Kevin P Kenna et al.   NATURE GENETICS

Adenosine-to-inosine RNA editing controls cathepsin S expression in atherosclerosis by enabling HuR-mediated post-transcriptional regulation

(2016) Konstantinos Stellos et al.   NATURE MEDICINE

The Perseus computational platform for comprehensive analysis of (prote)omics data

(2016) Stefka Tyanova et al.   NATURE METHODS

Gene discovery in amyotrophic lateral sclerosis: implications for clinical management

(2016) Ammar Al-Chalabi et al.   Nature Reviews Neurology

The Regulation of NF-κB Subunits by Phosphorylation

(2016) Frank Christian et al.   Cells

Establishing the UK DNA Bank for motor neuron disease (MND)

(2015) Lucy Smith et al.   BMC GENETICS

Dysregulated miRNA biogenesis downstream of cellular stress and ALS-causing mutations: a new mechanism for ALS

(2015) A. Emde et al.   EMBO JOURNAL

TDP-43 activates microglia through NF-κB and NLRP3 inflammasome

(2015) Weihua Zhao et al.   EXPERIMENTAL NEUROLOGY

Sequence determinants of improved CRISPR sgRNA design

(2015) Han Xu et al.   GENOME RESEARCH

NLRP3 inflammasome is expressed by astrocytes in the SOD1 mouse model of ALS and in human sporadic ALS patients

(2015) Sonja Johann et al.   GLIA

Unraveling CRISPR-Cas9 genome engineering parameters via a library-on-library approach

(2015) Raj Chari et al.   NATURE METHODS

Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation

(2015) Nuala A. O'Leary et al.   NUCLEIC ACIDS RESEARCH

Predicting effective microRNA target sites in mammalian mRNAs

(2015) Vikram Agarwal et al.   eLife

Rare-Variant Association Analysis: Study Designs and Statistical Tests

(2014) Seunggeung Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evaluating the levels of interleukin-1 family cytokines in sporadic amyotrophic lateral sclerosis

(2014) Paola Italiani et al.   Journal of Neuroinflammation

Accurate Proteome-wide Label-free Quantification by Delayed Normalization and Maximal Peptide Ratio Extraction, Termed MaxLFQ

(2014) Jürgen Cox et al.   MOLECULAR & CELLULAR PROTEOMICS

Microglia Induce Motor Neuron Death via the Classical NF-κB Pathway in Amyotrophic Lateral Sclerosis

(2014) Ashley E. Frakes et al.   NEURON

Massively Parallel Single-Cell RNA-Seq for Marker-Free Decomposition of Tissues into Cell Types

(2014) D. A. Jaitin et al.   SCIENCE

The structural basis for receptor recognition of human interleukin-18

(2014) Naotaka Tsutsumi et al.   Nature Communications

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

(2013) Come Raczy et al.   BIOINFORMATICS

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

DNA targeting specificity of RNA-guided Cas9 nucleases

(2013) Patrick D Hsu et al.   NATURE BIOTECHNOLOGY

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Missense variant in TREML2 protects against Alzheimer's disease

(2013) Bruno A. Benitez et al.   NEUROBIOLOGY OF AGING

Altered microRNA expression profile in amyotrophic lateral sclerosis: a role in the regulation of NFL mRNA levels

(2013) Danae Campos-Melo et al.   Molecular Brain

Isolation and Culture of Mouse Cortical Astrocytes

(2013) Sebastian Schildge et al.   Jove-Journal of Visualized Experiments

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

(2012) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

FUS stimulates microRNA biogenesis by facilitating co-transcriptional Drosha recruitment

(2012) Mariangela Morlando et al.   EMBO JOURNAL

Modulating inflammatory monocytes with a unique microRNA gene signature ameliorates murine ALS

(2012) Oleg Butovsky et al.   JOURNAL OF CLINICAL INVESTIGATION

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

(2012) Thorlakur Jonsson et al.   NATURE

TDP-43 promotes microRNA biogenesis as a component of the Drosha and Dicer complexes

(2012) Y. Kawahara et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ViennaRNA Package 2.0

(2011) Ronny Lorenz et al.   Algorithms for Molecular Biology

Quantitative, High-Resolution Proteomics for Data-Driven Systems Biology

(2011) Jürgen Cox et al.   Annual Review of Biochemistry

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Deregulation of TDP-43 in amyotrophic lateral sclerosis triggers nuclear factor κB–mediated pathogenic pathways

(2011) Vivek Swarup et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Transfer-PCR (TPCR): A highway for DNA cloning and protein engineering

(2011) Ariel Erijman et al.   JOURNAL OF STRUCTURAL BIOLOGY

Software Lock Mass by Two-Dimensional Minimization of Peptide Mass Errors

(2011) Jürgen Cox et al.   JOURNAL OF THE AMERICAN SOCIETY FOR MASS SPECTROMETRY

Neuroinflammation in amyotrophic lateral sclerosis: role of glial activation in motor neuron disease

(2011) Thomas Philips et al.   LANCET NEUROLOGY

Stabilization of Dll1 mRNA by Elavl1/HuR in neuroepithelial cells undergoing mitosis

(2011) Daniel J. García-Domínguez et al.   MOLECULAR BIOLOGY OF THE CELL

Integrative Regulatory Mapping Indicates that the RNA-Binding Protein HuR Couples Pre-mRNA Processing and mRNA Stability

(2011) Neelanjan Mukherjee et al.   MOLECULAR CELL

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

Nuclear factor TDP-43 can affect selected microRNA levels

(2010) Emanuele Buratti et al.   FEBS Journal

Interleukin 18 in the CNS

(2010) Silvia Alboni et al.   Journal of Neuroinflammation

Repeat expansion disease: progress and puzzles in disease pathogenesis

(2010) Albert R. La Spada et al.   NATURE REVIEWS GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

miRNA malfunction causes spinal motor neuron disease

(2010) S. Haramati et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MicroRNAs: Target Recognition and Regulatory Functions

(2009) David P. Bartel   CELL

Mapping complex disease traits with global gene expression

(2009) William Cookson et al.   NATURE REVIEWS GENETICS

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

(2009) J. E. Landers et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MicroRNA-206 Delays ALS Progression and Promotes Regeneration of Neuromuscular Synapses in Mice

(2009) A. H. Williams et al.   SCIENCE

NF- B in the Nervous System

(2009) B. Kaltschmidt et al.   Cold Spring Harbor Perspectives in Biology

The NF- B Family of Transcription Factors and Its Regulation

(2009) A. Oeckinghaus et al.   Cold Spring Harbor Perspectives in Biology

Interleukin-18-Mediated Microglia/Astrocyte Interaction in the Spinal Cord Enhances Neuropathic Pain Processing after Nerve Injury

(2008) K. Miyoshi et al.   JOURNAL OF NEUROSCIENCE

MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification

(2008) Jürgen Cox et al.   NATURE BIOTECHNOLOGY

Prevalence of SOD1 mutations in the Italian ALS population

(2008) A. Chio et al.   NEUROLOGY