Amyotrophic lateral sclerosis: a neurodegenerative disorder poised for successful therapeutic translation

Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis

(2022) Sai Zhang et al.   NEURON

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

(2022) Anna-Leigh Brown et al.   NATURE

Extracellular Vesicles Derived From Ex Vivo Expanded Regulatory T Cells Modulate In Vitro and In Vivo Inflammation

(2022) Aaron D. Thome et al.   Frontiers in Immunology

Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

(2022) Timothy M. Miller et al.   NEW ENGLAND JOURNAL OF MEDICINE

Impairment of mitochondrial oxidative phosphorylation in skin fibroblasts of SALS and FALS patients is rescued by in vitro treatment with ROS scavengers

(2021) Grazyna Debska-Vielhaber et al.   EXPERIMENTAL NEUROLOGY

TDP-43 aggregation induced by oxidative stress causes global mitochondrial imbalance in ALS

(2021) Xinxin Zuo et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

C9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly

(2021) Tao Wang et al.   Cell Metabolism

Targeting for Success: Demonstrating Proof-of-Concept with Mechanistic Early Phase Clinical Pharmacology Studies for Disease-Modification in Neurodegenerative Disorders

(2021) Maurits F. J. M. Vissers et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis

(2021) Stephanie R Shepheard et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Shared genetic links between amyotrophic lateral sclerosis and obesity-related traits: a genome-wide association study

(2021) Chunyu Li et al.   NEUROBIOLOGY OF AGING

An old friend who has overstayed their welcome: the ALSFRS-R total score as primary endpoint for ALS clinical trials

(2021) Ruben P.A. van Eijk et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Mitochondrial dysfunction and traffic jams in amyotrophic lateral sclerosis

(2021) Rishabh Jhanji et al.   MITOCHONDRION

The Unique Immunomodulatory Properties of MSC-Derived Exosomes in Organ Transplantation

(2021) Qingyuan Zheng et al.   Frontiers in Immunology

DNA damage as a mechanism of neurodegeneration in ALS and a contributor to astrocyte toxicity

(2021) Jannigje Rachel Kok et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Amyotrophic lateral sclerosis is a systemic disease

(2021) Stanley H. Appel et al.   CURRENT OPINION IN NEUROLOGY

NRF2 as a therapeutic opportunity to impact in the molecular roadmap of ALS

(2021) J. Jiménez-Villegas et al.   FREE RADICAL BIOLOGY AND MEDICINE

Current Concepts on Genetic Aspects of Mitochondrial Dysfunction in Amyotrophic Lateral Sclerosis

(2021) Milena Jankovic et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

(2021) Payam Mohassel et al.   NATURE MEDICINE

Glial Metabolic Reprogramming in Amyotrophic Lateral Sclerosis

(2021) Patricia Cassina et al.   NEUROIMMUNOMODULATION

Innovating Clinical Trials for Amyotrophic Lateral Sclerosis

(2021) Ruben P.A. van Eijk et al.   NEUROLOGY

Exploring the alternative: Fish, flies and worms as preclinical models for ALS

(2021) Elke Braems et al.   NEUROSCIENCE LETTERS

Mini-Review: Induced pluripotent stem cells and the search for new cell-specific ALS therapeutic targets

(2021) Laura Ferraiuolo et al.   NEUROSCIENCE LETTERS

Cortical hyperexcitability: Diagnostic and pathogenic biomarker of ALS

(2021) Steve Vucic et al.   NEUROSCIENCE LETTERS

Ubiquitination of G3BP1 mediates stress granule disassembly in a context-specific manner

(2021) Youngdae Gwon et al.   SCIENCE

Drug repurposing: Misconceptions, challenges, and opportunities for academic researchers

(2021) C. Glenn Begley et al.   Science Translational Medicine

Altered stress granule disassembly: links to neurodegenerative disease?

(2021) Alicia Dubinski et al.   TRENDS IN NEUROSCIENCES

Human sensorimotor organoids derived from healthy and amyotrophic lateral sclerosis stem cells form neuromuscular junctions

(2021) João D. Pereira et al.   Nature Communications

Extensive phenotypic characterisation of a human TDP-43Q331K transgenic mouse model of amyotrophic lateral sclerosis (ALS)

(2021) Jodie A. Watkins et al.   Scientific Reports

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

(2021) Janel O. Johnson et al.   JAMA Neurology

Expert-Augmented Computational Drug Repurposing Identified Baricitinib as a Treatment for COVID-19

(2021) Daniel P. Smith et al.   Frontiers in Pharmacology

Synaptic density in carriers of C9orf72 mutations: a [ 11 C]UCB‐J PET study

(2021) Maura Malpetti et al.   Annals of Clinical and Translational Neurology

Physical exercise is a risk factor for amyotrophic lateral sclerosis: Convergent evidence from Mendelian randomisation, transcriptomics and risk genotypes

(2021) Thomas H Julian et al.   EBioMedicine

Glutathione in the Nervous System as a Potential Therapeutic Target to Control the Development and Progression of Amyotrophic Lateral Sclerosis

(2021) Kiyoung Kim   Antioxidants

Adaptive Platform Trials to Transform Amyotrophic Lateral Sclerosis Therapy Development

(2021) Sabrina Paganoni et al.   ANNALS OF NEUROLOGY

A review of Mendelian randomization in amyotrophic lateral sclerosis

(2021) Thomas H Julian et al.   BRAIN

A randomized placebo‐controlled phase 3 study of mesenchymal stem cells induced to secrete high levels of neurotrophic factors in amyotrophic lateral sclerosis

(2021) Merit E. Cudkowicz et al.   MUSCLE & NERVE

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

Circulating miR-181 is a prognostic biomarker for amyotrophic lateral sclerosis

(2021) Iddo Magen et al.   NATURE NEUROSCIENCE

IGF 1R regulates retrograde axonal transport of signalling endosomes in motor neurons

(2020) Alexander D Fellows et al.   EMBO REPORTS

Cross-sectional and longitudinal measures of chitinase proteins in amyotrophic lateral sclerosis and expression of CHI3L1 in activated astrocytes

(2020) Lucas Vu et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Astrocyte Diversity: Current Insights and Future Directions

(2020) Thomas Westergard et al.   NEUROCHEMICAL RESEARCH

DNA damage accumulates and responses are engaged in human ALS brain and spinal motor neurons and DNA repair is activatable in iPSC-derived motor neurons with SOD1 mutations

(2020) Byung Woo Kim et al.   Acta Neuropathologica Communications

Targeting TDP‐43 proteinopathy with drugs and drug‐like small molecules.

(2020) Emanuele Buratti   BRITISH JOURNAL OF PHARMACOLOGY

A proposal for new diagnostic criteria for ALS

(2020) Jeremy M. Shefner et al.   CLINICAL NEUROPHYSIOLOGY

Tissue‐selective regulation of protein homeostasis and unfolded protein response signalling in sporadic ALS

(2020) Luigi Montibeller et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Optimizing Telemedicine to Facilitate ALS Clinical Trials

(2020) Raghav Govindarajan et al.   MUSCLE & NERVE

Programmed axon degeneration: from mouse to mechanism to medicine

(2020) Michael P. Coleman et al.   NATURE REVIEWS NEUROSCIENCE

Validation of serum neurofilaments as prognostic and potential pharmacodynamic biomarkers for ALS

(2020) Michael Benatar et al.   NEUROLOGY

Brain delivery of therapeutic proteins using an Fc fragment blood-brain barrier transport vehicle in mice and monkeys

(2020) Mihalis S. Kariolis et al.   Science Translational Medicine

Proteome Homeostasis Dysfunction: A Unifying Principle in ALS Pathogenesis

(2020) Justin J. Yerbury et al.   TRENDS IN NEUROSCIENCES

Mice Carrying ALS Mutant TDP-43, but Not Mutant FUS, Display In Vivo Defects in Axonal Transport of Signaling Endosomes

(2020) James N. Sleigh et al.   Cell Reports

Use of Multimodal Imaging and Clinical Biomarkers in Presymptomatic Carriers of C9orf72 Repeat Expansion

(2020) Joke De Vocht et al.   JAMA Neurology

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

Biomarkers in amyotrophic lateral sclerosis

(2020) Nick Verber et al.   CURRENT OPINION IN NEUROLOGY

Amyotrophic lateral sclerosis: a clinical review

(2020) P. Masrori et al.   EUROPEAN JOURNAL OF NEUROLOGY

Increased activation ability of monocytes from ALS patients

(2020) Yunlan Du et al.   EXPERIMENTAL NEUROLOGY

Applications of machine learning to diagnosis and treatment of neurodegenerative diseases

(2020) Monika A. Myszczynska et al.   Nature Reviews Neurology

Phase 1–2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

(2020) Timothy Miller et al.   NEW ENGLAND JOURNAL OF MEDICINE

ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function

(2020) Josephine J. Wu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Real-world evidence of riluzole effectiveness in treating amyotrophic lateral sclerosis

(2020) Jinsy A. Andrews et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia

(2020) Ramya Ranganathan et al.   Frontiers in Neuroscience

Improved ALS clinical trials through frequent at‐home self‐assessment: a proof of concept study

(2020) Seward B. Rutkove et al.   Annals of Clinical and Translational Neurology

Repeated 5-day cycles of low dose aldesleukin in amyotrophic lateral sclerosis (IMODALS): A phase 2a randomised, double-blind, placebo-controlled trial

(2020) William Camu et al.   EBioMedicine

Military service and related risk factors for amyotrophic lateral sclerosis

(2020) Kyla A. McKay et al.   ACTA NEUROLOGICA SCANDINAVICA

TDP-43 transports ribosomal protein mRNA to regulate axonal local translation in neuronal axons

(2020) Seiichi Nagano et al.   ACTA NEUROPATHOLOGICA

TDP-43 Triggers Mitochondrial DNA Release via mPTP to Activate cGAS/STING in ALS

(2020) Chien-Hsiung Yu et al.   CELL

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

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

Amyotrophic lateral sclerosis associated mislocalisation of TDP‐43 to the cytoplasm causes cortical hyperexcitability and reduced excitatory neurotransmission in the motor cortex

(2020) MS. Dyer et al.   JOURNAL OF NEUROCHEMISTRY

Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations

(2020) Anna Konopka et al.   Molecular Neurodegeneration

The role of TDP-43 mislocalization in amyotrophic lateral sclerosis

(2020) Terry R. Suk et al.   Molecular Neurodegeneration

Neurofilaments in motor neuron disorders: towards promising diagnostic and prognostic biomarkers

(2020) Elisabetta Zucchi et al.   Molecular Neurodegeneration

Long‐Term Survival of Participants in the CENTAUR Trial of Sodium Phenylbutyrate‐Taurursodiol in ALS

(2020) Sabrina Paganoni et al.   MUSCLE & NERVE

C9orf72 in myeloid cells suppresses STING-induced inflammation

(2020) Madelyn E. McCauley et al.   NATURE

Complement in neurological disorders and emerging complement-targeted therapeutics

(2020) Marinos C. Dalakas et al.   Nature Reviews Neurology

Survival and Motor Phenotypes in FVB C9-500 ALS/FTD BAC Transgenic Mice Reproduced by Multiple Labs

(2020) Lien Nguyen et al.   NEURON

Absence of Survival and Motor Deficits in 500 Repeat C9ORF72 BAC Mice

(2020) Daniel A. Mordes et al.   NEURON

Trial of Sodium Phenylbutyrate–Taurursodiol for Amyotrophic Lateral Sclerosis

(2020) Sabrina Paganoni et al.   NEW ENGLAND JOURNAL OF MEDICINE

TargetDB: A target information aggregation tool and tractability predictor

(2020) Stephane De Cesco et al.   PLoS One

ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics

(2020) Minyeop Nahm et al.   Science Translational Medicine

Prevention of mitochondrial impairment by inhibition of protein phosphatase 1 activity in amyotrophic lateral sclerosis

(2020) So Yoen Choi et al.   Cell Death & Disease

A Phase 2, Double-Blind, Randomized, Dose-Ranging Trial Of Reldesemtiv In Patients With ALS

(2020) Jeremy M. Shefner et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

PET Imaging for Oxidative Stress in Neurodegenerative Disorders Associated with Mitochondrial Dysfunction

(2020) Masamichi Ikawa et al.   Antioxidants

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

(2020) Ryoichi Nakamura et al.   Communications Biology

Directly converted astrocytes retain the ageing features of the donor fibroblasts and elucidate the astrocytic contribution to human CNS health and disease

(2020) Noemi Gatto et al.   AGING CELL

Magnetic resonance spectroscopy reveals mitochondrial dysfunction in amyotrophic lateral sclerosis

(2020) Matilde Sassani et al.   BRAIN

Cellular and physiological functions of C9ORF72 and implications for ALS/FTD

(2020) Weilun Pang et al.   JOURNAL OF NEUROCHEMISTRY

Improving clinical trial outcomes in amyotrophic lateral sclerosis

(2020) Matthew C. Kiernan et al.   Nature Reviews Neurology

Astrocytes release glutamate via cystine/glutamate antiporter upregulated in response to increased oxidative stress related to sporadic amyotrophic lateral sclerosis

(2020) Miku Kazama et al.   NEUROPATHOLOGY

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

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

LSM12-EPAC1 defines a neuroprotective pathway that sustains the nucleocytoplasmic RAN gradient

(2020) Jongbo Lee et al.   PLOS BIOLOGY

TDP-43 mutations link Amyotrophic Lateral Sclerosis with R-loop homeostasis and R loop-mediated DNA damage

(2020) Marta Giannini et al.   PLoS Genetics

Effect of Ezogabine on Cortical and Spinal Motor Neuron Excitability in Amyotrophic Lateral Sclerosis

(2020) Brian J. Wainger et al.   JAMA Neurology

TDP-43 Puts the STING in ALS

(2020) John D. Lee et al.   TRENDS IN NEUROSCIENCES

Therapeutic targeting of the NRF2 and KEAP1 partnership in chronic diseases

(2019) Antonio Cuadrado et al.   NATURE REVIEWS DRUG DISCOVERY

Diagnostic and Prognostic Performance of Neurofilaments in ALS

(2019) Koen Poesen et al.   Frontiers in Neurology

RNA Dysregulation in Amyotrophic Lateral Sclerosis

(2019) Zoe Butti et al.   Frontiers in Genetics

A standard operating procedure for King’s ALS clinical staging

(2019) Rubika Balendra et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis

(2019) Johnathan Cooper-Knock et al.   Cell Reports

Motor neuron disease-associated loss of nuclear TDP-43 is linked to DNA double-strand break repair defects

(2019) Joy Mitra et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The role of astrocytic glutamate transporters GLT-1 and GLAST in neurological disorders: Potential targets for neurotherapeutics

(2019) Edward Pajarillo et al.   NEUROPHARMACOLOGY

Revised Airlie House consensus guidelines for design and implementation of ALS clinical trials

(2019) Leonard H. van den Berg et al.   NEUROLOGY

Implications of Microglia in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

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

Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

(2019) Sara Bandres‐Ciga et al.   ANNALS OF NEUROLOGY

C9ORF72-ALS/FTD-associated poly(GR) binds Atp5a1 and compromises mitochondrial function in vivo

(2019) So Yoen Choi et al.   NATURE NEUROSCIENCE

Biomarkers in Motor Neuron Disease: A State of the Art Review

(2019) Nick S. Verber et al.   Frontiers in Neurology

Epidemiology of amyotrophic lateral sclerosis

(2019) Elisa Longinetti et al.   CURRENT OPINION IN NEUROLOGY

Recent Developments in TSPO PET Imaging as A Biomarker of Neuroinflammation in Neurodegenerative Disorders

(2019) Eryn L. Werry et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Small-Molecule Modulation of TDP-43 Recruitment to Stress Granules Prevents Persistent TDP-43 Accumulation in ALS/FTD

(2019) Mark Y. Fang et al.   NEURON

Lifetime Risk and Heritability of Amyotrophic Lateral Sclerosis

(2019) Marie Ryan et al.   JAMA Neurology

RNA Granules Hitchhike on Lysosomes for Long-Distance Transport, Using Annexin A11 as a Molecular Tether

(2019) Ya-Cheng Liao et al.   CELL

Structural insights into ISRIB, a memory‐enhancing inhibitor of the integrated stress response

(2019) Aditya A. Anand et al.   FEBS Journal

Diagnostic and Prognostic Role of Blood and Cerebrospinal Fluid and Blood Neurofilaments in Amyotrophic Lateral Sclerosis: A Review of the Literature

(2019) Delia Gagliardi et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The microglial NLRP3 inflammasome is activated by amyotrophic lateral sclerosis proteins

(2019) Vandana Deora et al.   GLIA

MCP1-CCR2 and neuroinflammation in the ALS motor cortex with TDP-43 pathology

(2019) Javier H. Jara et al.   Journal of Neuroinflammation

Neurological disorders and mitochondria

(2019) J.V. Cabral-Costa et al.   MOLECULAR ASPECTS OF MEDICINE

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

NurOwn, phase 2, randomized, clinical trial in patients with ALS

(2019) James D. Berry et al.   NEUROLOGY

Sarm1 deletion suppresses TDP-43-linked motor neuron degeneration and cortical spine loss

(2019) Matthew A. White et al.   Acta Neuropathologica Communications

Stress granule mediated protein aggregation and underlying gene defects in the FTD-ALS spectrum

(2019) Yalda Baradaran-Heravi et al.   NEUROBIOLOGY OF DISEASE

Development and Validation of the Rasch-Built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS)

(2019) Christina N. Fournier et al.   JAMA Neurology

Nucleo-cytoplasmic transport of TDP-43 studied in real time: impaired microglia function leads to axonal spreading of TDP-43 in degenerating motor neurons

(2018) Adam J. Svahn et al.   ACTA NEUROPATHOLOGICA

Neurofilament light: A candidate biomarker of pre-symptomatic ALS and phenoconversion

(2018) Michael Benatar et al.   ANNALS OF NEUROLOGY

Drosophila models of amyotrophic lateral sclerosis with defects in RNA metabolism

(2018) Ke Zhang et al.   BRAIN RESEARCH

Stress Granule Assembly Disrupts Nucleocytoplasmic Transport

(2018) Ke Zhang et al.   CELL

Metabotropic glutamate receptor involvement in the pathophysiology of amyotrophic lateral sclerosis: new potential drug targets for therapeutic applications

(2018) Giuseppe Battaglia et al.   CURRENT OPINION IN PHARMACOLOGY

The role of Nrf2 signaling in counteracting neurodegenerative diseases

(2018) Albena T. Dinkova-Kostova et al.   FEBS Journal

Antisense oligonucleotides extend survival and reverse decrement in muscle response in ALS models

(2018) Alex McCampbell et al.   JOURNAL OF CLINICAL INVESTIGATION

Systematic Screening of Ubiquitin/p62 Aggregates in Cerebellar Cortex Expands the Neuropathological Phenotype of the C9orf72 Expansion Mutation

(2018) Oscar Ramos-Campoy et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model

(2018) Henk-Jan Westeneng et al.   LANCET NEUROLOGY

TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD

(2018) Matthew A. White et al.   NATURE NEUROSCIENCE

TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD

(2018) Ching-Chieh Chou et al.   NATURE NEUROSCIENCE

Translation of dipeptide repeat proteins from the C9ORF72 expanded repeat is associated with cellular stress

(2018) Yoshifumi Sonobe et al.   NEUROBIOLOGY OF DISEASE

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

(2018) Aude Nicolas et al.   NEURON

Autophagy as a common pathway in amyotrophic lateral sclerosis

(2018) Dao K.H. Nguyen et al.   NEUROSCIENCE LETTERS

The multi-dimensional roles of astrocytes in ALS

(2018) Koji Yamanaka et al.   NEUROSCIENCE RESEARCH

NEK1 loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons

(2018) Julia Higelin et al.   Stem Cell Research

Endoplasmic reticulum and mitochondria in diseases of motor and sensory neurons: a broken relationship?

(2018) Nathalie Bernard-Marissal et al.   Cell Death & Disease

Inhibiting p38 MAPK alpha rescues axonal retrograde transport defects in a mouse model of ALS

(2018) Katherine L. Gibbs et al.   Cell Death & Disease

C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity

(2018) Bhuvaneish T. Selvaraj et al.   Nature Communications

Nuclear egress of TDP-43 and FUS occurs independently of Exportin-1/CRM1

(2018) Helena Ederle et al.   Scientific Reports

Translating SOD1 Gene Silencing toward the Clinic: A Highly Efficacious, Off-Target-free, and Biomarker-Supported Strategy for fALS

(2018) Tommaso Iannitti et al.   Molecular Therapy-Nucleic Acids

Improved stratification of ALS clinical trials using predicted survival

(2018) James D. Berry et al.   Annals of Clinical and Translational Neurology

Modeling sporadic ALS in iPSC-derived motor neurons identifies a potential therapeutic agent

(2018) Koki Fujimori et al.   NATURE MEDICINE

Microglial signatures and their role in health and disease

(2018) Oleg Butovsky et al.   NATURE REVIEWS NEUROSCIENCE

Mutant FUS causes DNA ligation defects to inhibit oxidative damage repair in Amyotrophic Lateral Sclerosis

(2018) Haibo Wang et al.   Nature Communications

Global, regional, and national burden of motor neuron diseases 1990–2016: a systematic analysis for the Global Burden of Disease Study 2016

(2018) Giancarlo Logroscino et al.   LANCET NEUROLOGY

Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features

(2018) Matthew P. Shaw et al.   Acta Neuropathologica Communications

Clinical efficacy of edaravone for the treatment of amyotrophic lateral sclerosis

(2017) Hideyuki Sawada   EXPERT OPINION ON PHARMACOTHERAPY

The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis

(2017) Manal A. Farg et al.   HUMAN MOLECULAR GENETICS

Chronic oxidative stress promotes GADD34-mediated phosphorylation of the TAR DNA-binding protein TDP-43, a modification linked to neurodegeneration

(2017) Catherine Wenhui Goh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial

(2017) Koji Abe et al.   LANCET NEUROLOGY

Neuroinflammation and ALS: Transcriptomic Insights into Molecular Disease Mechanisms and Therapeutic Targets

(2017) Giovanna Morello et al.   MEDIATORS OF INFLAMMATION

Phase Separation of C9orf72 Dipeptide Repeats Perturbs Stress Granule Dynamics

(2017) Steven Boeynaems et al.   MOLECULAR CELL

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

(2017) Lindsay A. Becker et al.   NATURE

C9orf72 expansion disrupts ATM-mediated chromosomal break repair

(2017) Callum Walker et al.   NATURE NEUROSCIENCE

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

(2017) Bradley N. Smith et al.   Science Translational Medicine

The Src/c-Abl pathway is a potential therapeutic target in amyotrophic lateral sclerosis

(2017) Keiko Imamura et al.   Science Translational Medicine

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72 -associated amyotrophic lateral sclerosis

(2017) Tania F. Gendron et al.   Science Translational Medicine

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

(2017) Wenting Guo et al.   Nature Communications

SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits

(2017) Guillaume M. Hautbergue et al.   Nature Communications

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

TBK1: a new player in ALS linking autophagy and neuroinflammation

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

Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype

(2017) Johnathan Cooper-Knock et al.   Frontiers in Molecular Neuroscience

Protein Homeostasis in Amyotrophic Lateral Sclerosis: Therapeutic Opportunities?

(2017) Christopher P. Webster et al.   Frontiers in Molecular Neuroscience

Cellular Chaperones As Therapeutic Targets in ALS to Restore Protein Homeostasis and Improve Cellular Function

(2017) Bernadett Kalmar et al.   Frontiers in Molecular Neuroscience

Autophagy Dysregulation in ALS: When Protein Aggregates Get Out of Hand

(2017) Nandini Ramesh et al.   Frontiers in Molecular Neuroscience

Amyotrophic lateral sclerosis

(2017) Orla Hardiman et al.   Nature Reviews Disease Primers

TDP-43 stabilises the processing intermediates of mitochondrial transcripts

(2017) Keiichi Izumikawa et al.   Scientific Reports

The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy

(2016) Christopher P Webster 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

Complement activation at the motor end-plates in amyotrophic lateral sclerosis

(2016) Nawal Bahia El Idrissi et al.   Journal of Neuroinflammation

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 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD

(2016) Yuanjing Liu et al.   NEURON

Poly(GR) in C9ORF72 -Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons

(2016) Rodrigo Lopez-Gonzalez et al.   NEURON

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

Physical activity, and physical activity related to sports, leisure and occupational activity as risk factors for ALS: A systematic review

(2016) Eleonora Lacorte et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Riluzole 5 mg/mL oral suspension: for optimized drug delivery in amyotrophic lateral sclerosis

(2016) Ann Margaret Dyer et al.   Drug Design Development and Therapy

Safety and Clinical Effects of Mesenchymal Stem Cells Secreting Neurotrophic Factor Transplantation in Patients With Amyotrophic Lateral Sclerosis

(2016) Panayiota Petrou et al.   JAMA Neurology

Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD

(2016) Steven Boeynaems et al.   Scientific Reports

Tauroursodeoxycholic acid in the treatment of patients with amyotrophic lateral sclerosis

(2015) A. E. Elia et al.   EUROPEAN JOURNAL OF NEUROLOGY

Tracking motor neuron loss in a set of six muscles in amyotrophic lateral sclerosis using the Motor Unit Number Index (MUNIX): a 15-month longitudinal multicentre trial

(2015) Christoph Neuwirth et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

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

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS

(2015) Ana Jovičić et al.   NATURE NEUROSCIENCE

Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis

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