Emerging insights into the complex genetics and pathophysiology of amyotrophic lateral sclerosis

Recent advances in the diagnosis and prognosis of amyotrophic lateral sclerosis

(2022) Stephen A Goutman et al.   LANCET NEUROLOGY

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis

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

Cognitive Network Hyperactivation and Motor Cortex Decline Correlate with ALS Prognosis

(2021) Roisin McMackin et al.   NEUROBIOLOGY OF AGING

Pathophysiology and Treatment of Non-motor Dysfunction in Amyotrophic Lateral Sclerosis

(2021) Colin J. Mahoney et al.   CNS DRUGS

Molecular Mechanisms Underlying TDP-43 Pathology in Cellular and Animal Models of ALS and FTLD

(2021) Alistair Wood et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Gene therapy for ALS: A review

(2021) Defne A. Amado et al.   MOLECULAR THERAPY

Interactions between ALS-linked FUS and nucleoporins are associated with defects in the nucleocytoplasmic transport pathway

(2021) Yen-Chen Lin et al.   NATURE NEUROSCIENCE

Neural mechanisms of psychosis vulnerability and perceptual abnormalities in the ALS‐FTD spectrum

(2021) Emma M. Devenney 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

Treatment of a Mouse Model of ALS by In Vivo Base Editing

(2020) Colin K.W. Lim et al.   MOLECULAR THERAPY

ALS phenotype is influenced by age, sex, and genetics

(2020) Adriano Chiò et al.   NEUROLOGY

ALS is a multistep process in South Korean, Japanese, and Australian patients

(2020) Steve Vucic et al.   NEUROLOGY

Voicing the Need for Amyotrophic Lateral Sclerosis Environmental Research

(2020) Stephen A. Goutman et al.   JAMA Neurology

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

(2020) Tatiana Orme et al.   Acta Neuropathologica Communications

Cell‐to‐cell transmission of C9orf72 poly‐(Gly‐Ala) triggers key features of ALS / FTD

(2020) Bahram Khosravi et al.   EMBO JOURNAL

Causal Association of Leukocytes Count and Amyotrophic Lateral Sclerosis: a Mendelian Randomization Study

(2020) Chunyu Li et al.   MOLECULAR NEUROBIOLOGY

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

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

TDP-43 Is Efficiently Transferred Between Neuron-Like Cells in a Manner Enhanced by Preservation of Its N-Terminus but Independent of Extracellular Vesicles

(2020) Christopher Sackmann et al.   Frontiers in Neuroscience

A Knowledge-Based Machine Learning Approach to Gene Prioritisation in Amyotrophic Lateral Sclerosis

(2020) Daniel M. Bean et al.   Genes

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

(2020) Chien-Hsiung Yu et al.   CELL

Cognitive and behavioural impairment in amyotrophic lateral sclerosis

(2020) Niall Pender et al.   CURRENT OPINION IN NEUROLOGY

Cardiovascular disease, psychiatric diagnosis and sex differences in the multistep hypothesis of amyotrophic lateral sclerosis

(2020) F. C. Garton et al.   EUROPEAN JOURNAL OF NEUROLOGY

C9orf72 in myeloid cells suppresses STING-induced inflammation

(2020) Madelyn E. McCauley et al.   NATURE

C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy

(2020) Casey N. Cook et al.   Science Translational Medicine

Role and therapeutic potential of liquid‒liquid phase separation in amyotrophic lateral sclerosis

(2020) Donya Pakravan et al.   Journal of Molecular Cell Biology

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

(2020) Ryoichi Nakamura et al.   Communications Biology

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

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

Simultaneous ALS and SCA2 associated with an intermediate-length ATXN2 CAG-repeat expansion

(2020) Helia Ghahremani Nezhad et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

(2020) Ramita Dewan et al.   NEURON

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

Machine Learning in Amyotrophic Lateral Sclerosis: Achievements, Pitfalls, and Future Directions

(2019) Vincent Grollemund et al.   Frontiers in Neuroscience

Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity

(2019) Yong-Jie Zhang et al.   SCIENCE

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

Cytotoxic CD8+T lymphocytes expressing ALS-causing SOD1 mutant selectively trigger death of spinal motoneurons

(2019) Emmanuelle Coque et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cytoplasmic TDP-43 De-mixing Independent of Stress Granules Drives Inhibition of Nuclear Import, Loss of Nuclear TDP-43, and Cell Death

(2019) Fatima Gasset-Rosa et al.   NEURON

The current state and future directions of RNAi-based therapeutics

(2019) Ryan L. Setten et al.   NATURE REVIEWS DRUG DISCOVERY

Immune dysregulation in amyotrophic lateral sclerosis: mechanisms and emerging therapies

(2019) David R Beers et al.   LANCET NEUROLOGY

High plasma concentrations of organic pollutants negatively impact survival in amyotrophic lateral sclerosis

(2019) Stephen A Goutman et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

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

C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy

(2019) Christopher P. Cali et al.   ACTA NEUROPATHOLOGICA

Patterned functional network disruption in amyotrophic lateral sclerosis

(2019) Stefan Dukic et al.   HUMAN BRAIN MAPPING

Lifetime Risk and Heritability of Amyotrophic Lateral Sclerosis

(2019) Marie Ryan et al.   JAMA Neurology

Disrupted glycosylation of lipids and proteins is a cause of neurodegeneration

(2019) Tobias Moll et al.   BRAIN

Relationship between neuropsychiatric disorders and cognitive and behavioural change in MND

(2019) Caroline A McHutchison et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Causal effects of serum metabolites on amyotrophic lateral sclerosis: A Mendelian randomization study

(2019) Lihong Yang et al.   PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY

Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis

(2018) Xiaoming Jia et al.   ANNALS OF NEUROLOGY

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

(2018) Ruth Chia et al.   LANCET NEUROLOGY

Repair of double-strand breaks induced by CRISPR–Cas9 leads to large deletions and complex rearrangements

(2018) Michael Kosicki et al.   NATURE BIOTECHNOLOGY

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

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

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

(2018) Aude Nicolas et al.   NEURON

ALS Genes in the Genomic Era and their Implications for FTD

(2018) Hung Phuoc Nguyen et al.   TRENDS IN GENETICS

Comprehensive integrative analyses identify GLT8D1 and CSNK2B as schizophrenia risk genes

(2018) Cui-Ping Yang et al.   Nature Communications

Regional thalamic MRI as a marker of widespread cortical pathology and progressive frontotemporal involvement in amyotrophic lateral sclerosis

(2018) Sicong Tu et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The multistep hypothesis of ALS revisited

(2018) Adriano Chiò et al.   NEUROLOGY

ALS-specific cognitive and behavior changes associated with advancing disease stage in ALS

(2018) Christopher Crockford et al.   NEUROLOGY

Psychiatric disorders in C9orf72 kindreds

(2018) Emma M. Devenney et al.   NEUROLOGY

Tau Protein Disrupts Nucleocytoplasmic Transport in Alzheimer’s Disease

(2018) Bahareh Eftekharzadeh et al.   NEURON

CRISPR-Cas guides the future of genetic engineering

(2018) Gavin J. Knott et al.   SCIENCE

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

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

Phase Separation of C9orf72 Dipeptide Repeats Perturbs Stress Granule Dynamics

(2017) Steven Boeynaems et al.   MOLECULAR CELL

Antisense oligonucleotides: the next frontier for treatment of neurological disorders

(2017) Carlo Rinaldi et al.   Nature Reviews Neurology

Polyglutamine-Expanded Huntingtin Exacerbates Age-Related Disruption of Nuclear Integrity and Nucleocytoplasmic Transport

(2017) Fatima Gasset-Rosa et al.   NEURON

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

(2017) Hong Joo Kim et al.   NEURON

Aberrant distributions of nuclear pore complex proteins in ALS mice and ALS patients

(2017) Jingwei Shang et al.   NEUROSCIENCE

Identification of risk factors associated with onset and progression of amyotrophic lateral sclerosis using systematic review and meta-analysis

(2017) Ming-Dong Wang et al.   NEUROTOXICOLOGY

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

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

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

(2017) Russell L. McLaughlin et al.   Nature Communications

Longitudinal structural changes in ALS: a three time-point imaging study of white and gray matter degeneration

(2017) Peter Bede et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Correlation of Peripheral Immunity With Rapid Amyotrophic Lateral Sclerosis Progression

(2017) Benjamin J. Murdock et al.   JAMA Neurology

Clustering of Neuropsychiatric Disease in First-Degree and Second-Degree Relatives of Patients With Amyotrophic Lateral Sclerosis

(2017) Margaret O’Brien et al.   JAMA Neurology

The Multiple Faces of Spinocerebellar Ataxia type 2

(2017) Antonella Antenora et al.   Annals of Clinical and Translational Neurology

In vivo genome editing improves motor function and extends survival in a mouse model of ALS

(2017) Thomas Gaj et al.   Science Advances

Amyotrophic lateral sclerosis and motor neuron syndromes in Asia

(2016) N Shahrizaila et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2016) Wouter van Rheenen et al.   NATURE GENETICS

Cell-to-Cell Transmission of Dipeptide Repeat Proteins Linked to C9orf72 -ALS/FTD

(2016) Thomas Westergard et al.   Cell Reports

TDP-43 or FUS-induced misfolded human wild-type SOD1 can propagate intercellularly in a prion-like fashion

(2016) Edward Pokrishevsky et al.   Scientific Reports

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

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

Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study

(2014) Ammar Al-Chalabi et al.   LANCET NEUROLOGY

Amyotrophic Lateral Sclerosis Risk for Spinocerebellar Ataxia Type 2ATXN2CAG Repeat Alleles

(2014) Annalese G. Neuenschwander et al.   JAMA Neurology

Using Reference Databases of Genetic Variation to Evaluate the Potential Pathogenicity of Candidate Disease Variants

(2013) Kevin P. Kenna et al.   HUMAN MUTATION

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

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

The epidemiology of ALS: a conspiracy of genes, environment and time

(2013) Ammar Al-Chalabi et al.   Nature Reviews Neurology

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

(2013) D. J. Hensman Moss et al.   NEUROLOGY

Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

(2013) Shuo-Chien Ling et al.   NEURON

Absence of consensus in diagnostic criteria for familial neurodegenerative diseases

(2012) Susan Byrne et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

(2012) Susan Byrne et al.   LANCET NEUROLOGY

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

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

An estimate of amyotrophic lateral sclerosis heritability using twin data

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

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

(2010) Ian RA Mackenzie et al.   LANCET NEUROLOGY