ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?

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

Caspase-4 mediates cytoplasmic accumulation of TDP-43 in the primate brains

(2019) Peng Yin et al.   ACTA NEUROPATHOLOGICA

Misfolded SOD1 inclusions in patients with mutations in C9orf72 and other ALS/FTD-associated genes

(2019) Karin Forsberg et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Multi-platform discovery of haplotype-resolved structural variation in human genomes

(2019) Mark J. P. Chaisson et al.   Nature Communications

Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software

(2019) Daniel L. Cameron et al.   Nature Communications

Genetic polymorphisms in amyotrophic lateral sclerosis: Evidence for implication in detoxification pathways of environmental toxicants

(2018) Efthimios Dardiotis et al.   ENVIRONMENT INTERNATIONAL

New FIG4 gene mutations causing aggressive ALS

(2018) C. Bertolin et al.   EUROPEAN JOURNAL OF NEUROLOGY

TDP-43 post-translational modifications in health and disease

(2018) Emanuele Buratti   EXPERT OPINION ON THERAPEUTIC TARGETS

Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains

(2018) Michael J Keogh et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients

(2018) Hung Phuoc Nguyen et al.   NEUROBIOLOGY OF AGING

Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation

(2018) Hiroya Naruse et al.   NEUROBIOLOGY OF AGING

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

(2018) Serena Lattante et al.   NEUROBIOLOGY OF AGING

Mutation screening of NEK1 in Chinese ALS patients

(2018) Shi Shu et al.   NEUROBIOLOGY OF AGING

Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report

(2018) Cyril Pottier et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Modeling Protein Aggregation and the Heat Shock Response in ALS iPSC-Derived Motor Neurons

(2018) Emily R. Seminary et al.   Frontiers in Neuroscience

Inotersen: First Global Approval

(2018) Susan J. Keam   DRUGS

FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study

(2017) Alma Osmanovic et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical efficacy of edaravone for the treatment of amyotrophic lateral sclerosis

(2017) Hideyuki Sawada   EXPERT OPINION ON PHARMACOTHERAPY

How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy

(2017) N N Singh et al.   GENE THERAPY

Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis

(2017) Vinod Sundaramoorthy et al.   HUMAN MOLECULAR GENETICS

Oligodendroglia: metabolic supporters of neurons

(2017) Thomas Philips et al.   JOURNAL OF CLINICAL INVESTIGATION

Microglia and C9orf72 in neuroinflammation and ALS and frontotemporal dementia

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

Neuron-to-Neuron Transfer of FUS in Drosophila Primary Neuronal Culture Is Enhanced by ALS-Associated Mutations

(2017) Sébastien Feuillette et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Fasciculation in amyotrophic lateral sclerosis: origin and pathophysiological relevance

(2017) Mamede de Carvalho et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

(2017) Zhang-Yu Zou et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice

(2017) Lindsay A. Becker et al.   NATURE

Neurotoxic reactive astrocytes are induced by activated microglia

(2017) Shane A. Liddelow et al.   NATURE

The chemical evolution of oligonucleotide therapies of clinical utility

(2017) Anastasia Khvorova et al.   NATURE BIOTECHNOLOGY

The impact of structural variation on human gene expression

(2017) Colby Chiang et al.   NATURE GENETICS

Burden of rare variants in ALS genes influences survival in familial and sporadic ALS

(2017) Shirley Yin-Yu Pang et al.   NEUROBIOLOGY OF AGING

ATXN2 trinucleotide repeat length correlates with risk of ALS

(2017) William Sproviero et al.   NEUROBIOLOGY OF AGING

Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2017) Jennifer A. Fifita et al.   Neurodegenerative Diseases

Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

(2017) Ruben P.A. van Eijk et al.   NEUROLOGY

Lost in Transportation: Nucleocytoplasmic Transport Defects in ALS and Other Neurodegenerative Diseases

(2017) Hong Joo Kim et al.   NEURON

RNA Misprocessing in C9orf72-Linked Neurodegeneration

(2017) Holly V. Barker et al.   Frontiers in Cellular Neuroscience

HDAC6 inhibition reverses axonal transport defects in motor neurons derived from FUS-ALS patients

(2017) Wenting Guo et al.   Nature Communications

Age-related penetrance of the C9orf72 repeat expansion

(2017) Natalie A. Murphy et al.   Scientific Reports

ALS Clinical Trials Review: 20 Years of Failure. Are We Any Closer to Registering a New Treatment?

(2017) Dmitry Petrov et al.   Frontiers in Aging Neuroscience

Advances in the delivery of RNA therapeutics: from concept to clinical reality

(2017) James C. Kaczmarek et al.   Genome Medicine

TBK1: a new player in ALS linking autophagy and neuroinflammation

(2017) James A. Oakes et al.   Molecular Brain

Young-onset rapidly progressive ALS associated with heterozygous FUS mutation

(2017) Marta Gromicho et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Direct Reprogramming Rather than iPSC-Based Reprogramming Maintains Aging Hallmarks in Human Motor Neurons

(2017) Yu Tang et al.   Frontiers in Molecular Neuroscience

The Enigmatic Role of C9ORF72 in Autophagy

(2017) Melissa Nassif et al.   Frontiers in Neuroscience

Genetic Correction of SOD1 Mutant iPSCs Reveals ERK and JNK Activated AP1 as a Driver of Neurodegeneration in Amyotrophic Lateral Sclerosis

(2017) Akshay Bhinge et al.   Stem Cell Reports

Role of Neuroinflammation in Amyotrophic Lateral Sclerosis: Cellular Mechanisms and Therapeutic Implications

(2017) Jia Liu et al.   Frontiers in Immunology

NEK1mutations in familial amyotrophic lateral sclerosis

(2016) David Brenner et al.   BRAIN

Mechanisms of FUS mutations in familial amyotrophic lateral sclerosis

(2016) Yulei Shang et al.   BRAIN RESEARCH

Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss

(2016) Jelena Scekic‐Zahirovic et al.   EMBO JOURNAL

Optineurin: The autophagy connection

(2016) Hongyu Ying et al.   EXPERIMENTAL EYE RESEARCH

Excitotoxicity in ALS: Overstimulation, or overreaction?

(2016) Anna E. King et al.   EXPERIMENTAL NEUROLOGY

Structural variants can be more informative for disease diagnostics, prognostics and translation than current SNP mapping and exon sequencing

(2016) Allen D. Roses et al.   Expert Opinion on Drug Metabolism & Toxicology

TDP-43 binds and transports G-quadruplex-containing mRNAs into neurites for local translation

(2016) Akira Ishiguro et al.   GENES TO CELLS

Physiological functions and pathobiology of TDP-43 and FUS/TLS proteins

(2016) Antonia Ratti et al.   JOURNAL OF NEUROCHEMISTRY

Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions

(2016) Tiffany W. Todd et al.   JOURNAL OF NEUROCHEMISTRY

Directly converted patient-specific induced neurons mirror the neuropathology of FUS with disrupted nuclear localization in amyotrophic lateral sclerosis

(2016) Su Min Lim et al.   Molecular Neurodegeneration

Eteplirsen Approved for Duchenne Muscular Dystrophy: The FDA Faces a Difficult Choice

(2016) Cy A Stein   MOLECULAR THERAPY

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

Modeling ALS with motor neurons derived from human induced pluripotent stem cells

(2016) Samuel Sances et al.   NATURE NEUROSCIENCE

TBK1 is associated with ALS and ALS-FTD in Sardinian patients

(2016) Giuseppe Borghero et al.   NEUROBIOLOGY OF AGING

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

Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9ORF72 hexanucleotide repeat expansion: a systematic neuropathological review

(2016) L. J. Schipper et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Increased cytoplasmicTARDBPmRNA in affected spinal motor neurons in ALS caused by abnormal autoregulation of TDP-43

(2016) Akihide Koyama et al.   NUCLEIC ACIDS RESEARCH

Two familial ALS proteins function in prevention/repair of transcription-associated DNA damage

(2016) Sarah J. Hill et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease

(2016) Aaron Burberry et al.   Science Translational Medicine

Principles and Properties of Stress Granules

(2016) David S.W. Protter et al.   TRENDS IN CELL BIOLOGY

ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of function

(2016) Aarti Sharma et al.   Nature Communications

Direct Lineage Reprogramming Reveals Disease-Specific Phenotypes of Motor Neurons from Human ALS Patients

(2016) Meng-Lu Liu et al.   Cell Reports

Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center

(2016) Gerson Chadi et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

An Amyloid-Like Pathological Conformation of TDP-43 Is Stabilized by Hypercooperative Hydrogen Bonds

(2016) Miguel Mompeán et al.   Frontiers in Molecular Neuroscience

Establishment of In Vitro FUS-Associated Familial Amyotrophic Lateral Sclerosis Model Using Human Induced Pluripotent Stem Cells

(2016) Naoki Ichiyanagi et al.   Stem Cell Reports

Genotype-phenotype correlations of amyotrophic lateral sclerosis

(2016) Hong-Fu Li et al.   Translational Neurodegeneration

Heterogeneity of cerebral TDP-43 pathology in sporadic amyotrophic lateral sclerosis: Evidence for clinico-pathologic subtypes

(2016) Ryoko Takeuchi et al.   Acta Neuropathologica Communications

ALS-linked misfolded SOD1 species have divergent impacts on mitochondria

(2016) Sarah Pickles et al.   Acta Neuropathologica Communications

Pathogenesis of FUS-associated ALS and FTD: insights from rodent models

(2016) Matthew Nolan et al.   Acta Neuropathologica Communications

C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production and glomerulonephropathy in mice

(2016) Amanda Atanasio et al.   Scientific Reports

Antisense oligonucleotides in therapy for neurodegenerative disorders

(2015) Melvin M. Evers et al.   ADVANCED DRUG DELIVERY REVIEWS

Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis

(2015) Shangxi Xiao et al.   ANNALS OF NEUROLOGY

C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

(2015) Max Koppers et al.   ANNALS OF NEUROLOGY

From transcriptomic to protein level changes in TDP-43 and FUS loss-of-function cell models

(2015) Claudia Colombrita et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

V42. De novo mutations in the FUS gene are a frequent cause of sporadic ALS in very young patients

(2015) A. Hübers et al.   CLINICAL NEUROPHYSIOLOGY

ALS mutant FUS proteins are recruited into stress granules in induced pluripotent stem cell-derived motoneurons

(2015) J. Lenzi et al.   Disease Models & Mechanisms

Prion-like domains in RNA binding proteins are essential for building subnuclear paraspeckles

(2015) Sven Hennig et al.   JOURNAL OF CELL BIOLOGY

UNC13A confers risk for sporadic ALS and influences survival in a Spanish cohort

(2015) Jose Manuel Vidal-Taboada et al.   JOURNAL OF NEUROLOGY

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations

(2015) Viviana Pensato et al.   JOURNAL OF NEUROLOGY

Autophagy receptor defects and ALS-FTLD

(2015) Veronika Majcher et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Cytoplasmic mislocalization of RNA splicing factors and aberrant neuronal gene splicing in TDP-43 transgenic pig brain

(2015) Guohao Wang et al.   Molecular Neurodegeneration

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

(2015) Brian D. Freibaum et al.   NATURE

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS

(2015) Bradley N. Smith et al.   NEUROBIOLOGY OF AGING

De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients

(2015) Annemarie Hübers et al.   NEUROBIOLOGY OF AGING

Stepwise acquirement of hallmark neuropathology in FUS-ALS iPSC models depends on mutation type and neuronal aging

(2015) Julia Japtok et al.   NEUROBIOLOGY OF DISEASE

Molecular classification of amyotrophic lateral sclerosis by unsupervised clustering of gene expression in motor cortex

(2015) Eleonora Aronica et al.   NEUROBIOLOGY OF DISEASE

Epidemiology of Amyotrophic Lateral Sclerosis and Effect of Riluzole on Disease Course

(2015) Hakan Cetin et al.   NEUROEPIDEMIOLOGY

In silico analysis of SIGMAR1 variant (rs4879809) segregating in a consanguineous Pakistani family showing amyotrophic lateral sclerosis without frontotemporal lobar dementia

(2015) Muhammad Ikram Ullah et al.   NEUROGENETICS

Familial Amyotrophic Lateral Sclerosis

(2015) Kevin Boylan   NEUROLOGIC CLINICS

Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

(2015) Owen M. Peters et al.   NEURON

C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD

(2015) Jacqueline G. O’Rourke et al.   NEURON

Studies of alternative isoforms provide insight into TDP-43 autoregulation and pathogenesis

(2015) S. D'Alton et al.   RNA

C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

(2015) J. Chew et al.   SCIENCE

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

An acetylation switch controls TDP-43 function and aggregation propensity

(2015) Todd J. Cohen et al.   Nature Communications

A Systematic Analysis of Factors Localized to Damaged Chromatin Reveals PARP-Dependent Recruitment of Transcription Factors

(2015) Lior Izhar et al.   Cell Reports

FUS Interacts with HSP60 to Promote Mitochondrial Damage

(2015) Jianwen Deng et al.   PLoS Genetics

Early lethality and neuronal proteinopathy in mice expressing cytoplasm-targeted FUS that lacks the RNA recognition motif

(2015) Hannah K. Robinson et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Golgi fragmentation in amyotrophic lateral sclerosis, an overview of possible triggers and consequences

(2015) Vinod Sundaramoorthy et al.   Frontiers in Neuroscience

Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis

(2015) Satoshi Yamashita et al.   Translational Neurodegeneration

FUS/TLS deficiency causes behavioral and pathological abnormalities distinct from amyotrophic lateral sclerosis

(2015) Yoshihiro Kino et al.   Acta Neuropathologica Communications

Prion-like Mechanism in Amyotrophic Lateral Sclerosis: are Protein Aggregates the Key?

(2015) Shynrye Lee et al.   Experimental Neurobiology

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes

(2014) Janet Cady et al.   ANNALS OF NEUROLOGY

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

(2014) Janel O. Johnson et al.   BRAIN

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

(2014) Johnathan Cooper-Knock et al.   BRAIN

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

(2014) Sylvie Bannwarth et al.   BRAIN

Species-dependent neuropathology in transgenic SOD1 pigs

(2014) Huaqiang Yang et al.   CELL RESEARCH

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

(2014) Manal A. Farg et al.   HUMAN MOLECULAR GENETICS

ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects

(2014) Haiyan Qiu et al.   JOURNAL OF CLINICAL INVESTIGATION

Safety and efficacy of ceftriaxone for amyotrophic lateral sclerosis: a multi-stage, randomised, double-blind, placebo-controlled trial

(2014) Merit E Cudkowicz et al.   LANCET NEUROLOGY

Resolving the complexity of the human genome using single-molecule sequencing

(2014) Mark J. P. Chaisson et al.   NATURE

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

(2014) Janel O Johnson et al.   NATURE NEUROSCIENCE

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients

(2014) Annabelle Chaussenot et al.   NEUROBIOLOGY OF AGING

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

(2014) Adrian J. Waite et al.   NEUROBIOLOGY OF AGING

Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system

(2014) Zhi-Jun Liu et al.   NEUROBIOLOGY OF AGING

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS

(2014) Zhaoming Su et al.   NEURON

Axonal Transport of TDP-43 mRNA Granules Is Impaired by ALS-Causing Mutations

(2014) Nael H. Alami et al.   NEURON

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

(2014) Bradley N. Smith et al.   NEURON

Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones

(2014) J. Robin Highley et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Allele-Specific Knockdown of ALS-Associated Mutant TDP-43 in Neural Stem Cells Derived from Induced Pluripotent Stem Cells

(2014) Agnes L. Nishimura et al.   PLoS One

Confirmatory double-blind, parallel-group, placebo-controlled study of efficacy and safety of edaravone (MCI-186) in amyotrophic lateral sclerosis patients

(2014) Koji Abe et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Golgi fragmentation precedes neuromuscular denervation and is associated with endosome abnormalities in SOD1-ALS mouse motor neurons

(2014) Vera van Dis et al.   Acta Neuropathologica Communications

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

(2013) Tania F. Gendron et al.   ACTA NEUROPATHOLOGICA

Frontotemporal dementia–amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1–q12.2: genetic, clinical and neuropathological analysis

(2013) Carol Dobson-Stone et al.   ACTA NEUROPATHOLOGICA

hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

(2013) Kohji Mori 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

ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19

(2013) Yuji Takahashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Stages of pTDP-43 pathology in amyotrophic lateral sclerosis

(2013) Johannes Brettschneider et al.   ANNALS OF NEUROLOGY

Genetic and Epigenetic Variations in iPSCs: Potential Causes and Implications for Application

(2013) Gaoyang Liang et al.   Cell Stem Cell

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

(2013) I. Fogh et al.   HUMAN MOLECULAR GENETICS

A patient-derived olfactory stem cell disease model for ataxia-telangiectasia

(2013) Romal Stewart et al.   HUMAN MOLECULAR GENETICS

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules

(2013) Caroline Vance et al.   HUMAN MOLECULAR GENETICS

The ALS disease-associated mutant TDP-43 impairs mitochondrial dynamics and function in motor neurons

(2013) Wenzhang Wang et al.   HUMAN MOLECULAR GENETICS

TARDBPandFUSMutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

(2013) Serena Lattante et al.   HUMAN MUTATION

The RNA-binding Protein Fused in Sarcoma (FUS) Functions Downstream of Poly(ADP-ribose) Polymerase (PARP) in Response to DNA Damage

(2013) Adam S. Mastrocola et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Intranuclear Aggregation of Mutant FUS/TLS as a Molecular Pathomechanism of Amyotrophic Lateral Sclerosis

(2013) Takao Nomura et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Fused in Sarcoma (FUS) Protein Lacking Nuclear Localization Signal (NLS) and Major RNA Binding Motifs Triggers Proteinopathy and Severe Motor Phenotype in Transgenic Mice

(2013) Tatyana A. Shelkovnikova et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing

(2013) Kevin P Kenna et al.   JOURNAL OF MEDICAL GENETICS

Foot-and-Mouth Disease Virus 3C Protease Induces Fragmentation of the Golgi Compartment and Blocks Intra-Golgi Transport

(2013) Z. Zhou et al.   JOURNAL OF VIROLOGY

An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study

(2013) Timothy M Miller et al.   LANCET NEUROLOGY

The wobbler mouse, an ALS animal model

(2013) Jakob Maximilian Moser et al.   MOLECULAR GENETICS AND GENOMICS

Genetics of amyotrophic lateral sclerosis: an update

(2013) Sheng Chen et al.   Molecular Neurodegeneration

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

(2013) Hong Joo Kim et al.   NATURE

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

(2013) Shin H Kang et al.   NATURE NEUROSCIENCE

Interaction of FUS and HDAC1 regulates DNA damage response and repair in neurons

(2013) Wen-Yuan Wang et al.   NATURE NEUROSCIENCE

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Emerging roles of astrocytes in neural circuit development

(2013) Laura E. Clarke et al.   NATURE REVIEWS NEUROSCIENCE

Axonal transport deficits and neurodegenerative diseases

(2013) Stéphanie Millecamps et al.   NATURE REVIEWS NEUROSCIENCE

Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis

(2013) Elisa Teyssou et al.   NEUROBIOLOGY OF AGING

Global Epidemiology of Amyotrophic Lateral Sclerosis: A Systematic Review of the Published Literature

(2013) A. Chiò et al.   NEUROEPIDEMIOLOGY

Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis

(2013) M. Hirano et al.   NEUROLOGY

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

(2013) Peter E.A. Ash et al.   NEURON

RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention

(2013) Christopher J. Donnelly et al.   NEURON

PARP-1 dependent recruitment of the amyotrophic lateral sclerosis-associated protein FUS/TLS to sites of oxidative DNA damage

(2013) Stuart L. Rulten et al.   NUCLEIC ACIDS RESEARCH

Molecular Imaging of Microglial Activation in Amyotrophic Lateral Sclerosis

(2013) Philippe Corcia et al.   PLoS One

Genome-Wide Copy Number Variation in Sporadic Amyotrophic Lateral Sclerosis in the Turkish Population: Deletion of EPHA3 Is a Possible Protective Factor

(2013) Özgün Uyan et al.   PLoS One

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

(2013) C. Lagier-Tourenne et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43

(2013) E. S. Arnold et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2013) D. Sareen et al.   Science Translational Medicine

Prion-like Properties of Pathological TDP-43 Aggregates from Diseased Brains

(2013) Takashi Nonaka et al.   Cell Reports

Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

(2013) Youn-Bok Lee et al.   Cell Reports

ALS-Associated FUS Mutations Result in Compromised FUS Alternative Splicing and Autoregulation

(2013) Yueqin Zhou et al.   PLoS Genetics

Gain-of-function mutations in the ALS8 causative gene VAPB have detrimental effects on neurons and muscles

(2013) M. Sanhueza et al.   Biology Open

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

(2012) Jacqueline C. Mitchell et al.   ACTA NEUROPATHOLOGICA

Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study

(2012) Mario Sabatelli et al.   Amyotrophic Lateral Sclerosis

Non-human primate model of amyotrophic lateral sclerosis with cytoplasmic mislocalization of TDP-43

(2012) Azusa Uchida et al.   BRAIN

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations

(2012) G. Abrahamsen et al.   Disease Models & Mechanisms

Autoregulation of TDP-43 mRNA levels involves interplay between transcription, splicing, and alternative polyA site selection

(2012) S. E. Avendano-Vazquez et al.   GENES & DEVELOPMENT

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis

(2012) Julien Couthouis et al.   HUMAN MOLECULAR GENETICS

C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis

(2012) M. Deschauer et al.   JOURNAL OF NEUROLOGY

Ubiquilin 2mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia

(2012) Cinzia Gellera et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Cellular reprogramming to reset epigenetic signatures

(2012) Kyle J. Hewitt et al.   MOLECULAR ASPECTS OF MEDICINE

Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesis

(2012) Christophe Verbeeck et al.   Molecular Neurodegeneration

Oligodendroglia metabolically support axons and contribute to neurodegeneration

(2012) Youngjin Lee et al.   NATURE

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans

(2012) Annelies Van Hoecke et al.   NATURE MEDICINE

Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs

(2012) Clotilde Lagier-Tourenne et al.   NATURE NEUROSCIENCE

De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China

(2012) Zhang-Yu Zou et al.   NEUROBIOLOGY OF AGING

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2012) E. Rubino et al.   NEUROLOGY

Knockdown of the Drosophila Fused in Sarcoma (FUS) Homologue Causes Deficient Locomotive Behavior and Shortening of Motoneuron Terminal Branches

(2012) Hiroshi Sasayama et al.   PLoS One

Ataxin-2-Like Is a Regulator of Stress Granules and Processing Bodies

(2012) Christian Kaehler et al.   PLoS One

FUS-NLS/Transportin 1 Complex Structure Provides Insights into the Nuclear Targeting Mechanism of FUS and the Implications in ALS

(2012) Chunyan Niu et al.   PLoS One

Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability

(2012) B. Bilican et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Drug Screening for ALS Using Patient-Specific Induced Pluripotent Stem Cells

(2012) N. Egawa et al.   Science Translational Medicine

Concise Review: Patient-Derived Olfactory Stem Cells: New Models for Brain Diseases

(2012) Alan Mackay-Sim   STEM CELLS

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

(2012) Pietro Fratta et al.   Scientific Reports

Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis

(2011) N. Ticozzi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis

(2011) Amr Al-Saif et al.   ANNALS OF NEUROLOGY

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

Altered Cell Cycle Dynamics in Schizophrenia

(2011) Yongjun Fan et al.   BIOLOGICAL PSYCHIATRY

FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations

(2011) Manuela Neumann et al.   BRAIN

Modelling the Effects of Penetrance and Family Size on Rates of Sporadic and Familial Disease

(2011) Ammar Al-Chalabi et al.   HUMAN HEREDITY

A non-invasive method to isolate the neuronal linage from the nasal epithelium from schizophrenic and bipolar diseases

(2011) G. Benítez-King et al.   JOURNAL OF NEUROSCIENCE METHODS

The Ewing Sarcoma Protein Regulates DNA Damage-Induced Alternative Splicing

(2011) Maria Paola Paronetto et al.   MOLECULAR CELL

Human Senataxin Resolves RNA/DNA Hybrids Formed at Transcriptional Pause Sites to Promote Xrn2-Dependent Termination

(2011) Konstantina Skourti-Stathaki et al.   MOLECULAR CELL

Expression of mutant TDP-43 induces neuronal dysfunction in transgenic mice

(2011) Ya-Fei Xu et al.   Molecular Neurodegeneration

MicroRNA-mediated conversion of human fibroblasts to neurons

(2011) Andrew S. Yoo et al.   NATURE

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

Induction of human neuronal cells by defined transcription factors

(2011) Zhiping P. Pang et al.   NATURE

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

(2011) James R Tollervey et al.   NATURE NEUROSCIENCE

A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS

(2011) Zeynep Tümer et al.   NEUROBIOLOGY OF AGING

Exome sequencing reveals SPG11 mutations causing juvenile ALS

(2011) Hussein Daoud et al.   NEUROBIOLOGY OF AGING

UNC13A is a modifier of survival in amyotrophic lateral sclerosis

(2011) Frank P. Diekstra et al.   NEUROBIOLOGY OF AGING

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

NRF2 Activation Restores Disease Related Metabolic Deficiencies in Olfactory Neurosphere-Derived Cells from Patients with Sporadic Parkinson's Disease

(2011) Anthony L. Cook et al.   PLoS One

A yeast functional screen predicts new candidate ALS disease genes

(2011) J. Couthouis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

FUS Transgenic Rats Develop the Phenotypes of Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration

(2011) Cao Huang et al.   PLoS Genetics

Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis

(2010) Brian C. Kraemer et al.   ACTA NEUROPATHOLOGICA

A randomized, placebo-controlled trial of memantine for functional disability in amyotrophic lateral sclerosis

(2010) Mamede de Carvalho et al.   Amyotrophic Lateral Sclerosis

Senataxin mutations and amyotrophic lateral sclerosis

(2010) Michio Hirano et al.   Amyotrophic Lateral Sclerosis

Paraoxonase gene mutations in amyotrophic lateral sclerosis

(2010) Nicola Ticozzi et al.   ANNALS OF NEUROLOGY

Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease

(2010) Agnes A. Luty et al.   ANNALS OF NEUROLOGY

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

(2010) A. Orlacchio et al.   BRAIN

A Review of the Neural Mechanisms of Action and Clinical Efficiency of Riluzole in Treating Amyotrophic Lateral Sclerosis: What have we Learned in the Last Decade?

(2010) Mark C. Bellingham   CNS Neuroscience & Therapeutics

Neurotoxic effects of TDP-43 overexpression in C. elegans

(2010) Peter E.A. Ash et al.   HUMAN MOLECULAR GENETICS

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

(2010) Hazel Urwin et al.   HUMAN MOLECULAR GENETICS

An estimate of amyotrophic lateral sclerosis heritability using twin data

(2010) A. Al-Chalabi et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Phosphorylation Promotes Neurotoxicity in a Caenorhabditis elegans Model of TDP-43 Proteinopathy

(2010) N. F. Liachko et al.   JOURNAL OF NEUROSCIENCE

Neuronal biomarkers from patients with mental illnesses: a novel method through nasal biopsy combined with laser-captured microdissection

(2010) K Tajinda et al.   MOLECULAR PSYCHIATRY

Myelination and support of axonal integrity by glia

(2010) Klaus-Armin Nave   NATURE

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

(2010) Andrew C. Elden et al.   NATURE

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient

(2010) Lucia Corrado et al.   NEUROBIOLOGY OF AGING

Progressive motor weakness in transgenic mice expressing human TDP-43

(2010) Nancy R. Stallings et al.   NEUROBIOLOGY OF DISEASE

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

AMPA receptor-mediated neuronal death in sporadic ALS

(2010) Shin Kwak et al.   NEUROPATHOLOGY

Mutations in CHMP2B in Lower Motor Neuron Predominant Amyotrophic Lateral Sclerosis (ALS)

(2010) Laura E. Cox et al.   PLoS One

Novel Antibodies Reveal Inclusions Containing Non-Native SOD1 in Sporadic ALS Patients

(2010) Karin Forsberg et al.   PLoS One

Olfactory Stem Cells, a New Cellular Model for Studying Molecular Mechanisms Underlying Familial Dysautonomia

(2010) Nathalie Boone et al.   PLoS One

Structural basis for the wobbler mouse neurodegenerative disorder caused by mutation in the Vps54 subunit of the GARP complex

(2010) F. J. Perez-Victoria et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deletion of TDP-43 down-regulates Tbc1d1, a gene linked to obesity, and alters body fat metabolism

(2010) P.-M. Chiang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase

(2010) J. Mitchell et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deficits in axonal transport precede ALS symptoms in vivo

(2010) L. G. Bilsland et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration

(2010) Hans Wils et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The multiple roles of TDP-43 in pre-mRNA processing and gene expression regulation

(2010) Emanuele Buratti et al.   RNA Biology

Oligodendrocytes: biology and pathology

(2009) Monika Bradl et al.   ACTA NEUROPATHOLOGICA

Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

(2009) Clement Y. Chow et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A phase II trial of talampanel in subjects with amyotrophic lateral sclerosis

(2009) Robert M. Pascuzzi et al.   Amyotrophic Lateral Sclerosis

Prognostic factors in ALS: A critical review

(2009) Adriano Chiò et al.   Amyotrophic Lateral Sclerosis

Recognition and Processing of Ubiquitin-Protein Conjugates by the Proteasome

(2009) Daniel Finley   Annual Review of Biochemistry

Oligomerization of Mutant SOD1 in Mitochondria of Motoneuronal Cells Drives Mitochondrial Damage and Cell Toxicity

(2009) Mauro Cozzolino et al.   ANTIOXIDANTS & REDOX SIGNALING

TDP-43 Redistribution is an Early Event in Sporadic Amyotrophic Lateral Sclerosis

(2009) Maria Teresa Giordana et al.   BRAIN PATHOLOGY

TDP-43, a neuro-pathosignature factor, is essential for early mouse embryogenesis

(2009) Lien-Szu Wu et al.   GENESIS

Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis

(2009) M. Sabatelli et al.   HUMAN MOLECULAR GENETICS

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

(2009) Edor Kabashi et al.   HUMAN MOLECULAR GENETICS

Molecular Neuropathology of TDP-43 Proteinopathies

(2009) Manuela Neumann   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

TDP-43 Is a Developmentally Regulated Protein Essential for Early Embryonic Development

(2009) Chantelle F. Sephton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS

(2009) A. -M. Wills et al.   NEUROLOGY

A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22

(2009) Russell J. Butterfield et al.   NEUROMUSCULAR DISORDERS

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

(2009) C. Vance et al.   SCIENCE

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease

(2008) Shirley Rainier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A common haplotype within the PON1 promoter region is associated with sporadic ALS

(2008) John E. Landers et al.   Amyotrophic Lateral Sclerosis

TDP-43mutation in familial amyotrophic lateral sclerosis

(2008) Akio Yokoseki et al.   ANNALS OF NEUROLOGY

TDP-43A315T mutation in familial motor neuron disease

(2008) Michael A. Gitcho et al.   ANNALS OF NEUROLOGY

Development of a High-Throughput Microarray-Based Resequencing System for Neurological Disorders and Its Application to Molecular Genetics of Amyotrophic Lateral Sclerosis

(2008) Yuji Takahashi et al.   ARCHIVES OF NEUROLOGY

Features of trinucleotide repeat instability in vivo

(2008) Irina V Kovtun et al.   CELL RESEARCH

Variants of the elongator protein 3 ( ELP3 ) gene are associated with motor neuron degeneration

(2008) Claire L. Simpson et al.   HUMAN MOLECULAR GENETICS

Structural determinants of the cellular localization and shuttling of TDP-43

(2008) Y. M. Ayala et al.   JOURNAL OF CELL SCIENCE

Anterior horn cells with abnormal TDP-43 immunoreactivities show fragmentation of the Golgi apparatus in ALS

(2008) Yukio Fujita et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Progranulin (PGRN) expression in ALS: An immunohistochemical study

(2008) D. Irwin et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

(2008) Vivianna M Van Deerlin et al.   LANCET NEUROLOGY

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

Association of paraoxonase gene cluster polymorphisms with ALS in France, Quebec, and Sweden

(2008) P. N. Valdmanis et al.   NEUROLOGY

Wobbler mice modeling motor neuron disease display elevated transactive response DNA binding protein

(2008) J.S. Dennis et al.   NEUROSCIENCE

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

Simple sequence repeats: genetic modulators of brain function and behavior

(2008) John W. Fondon et al.   TRENDS IN NEUROSCIENCES

Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis

(2008) Nicola J. Rutherford et al.   PLoS Genetics