Progress in Amyotrophic Lateral Sclerosis Gene Discovery

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

(2022) Sai Zhang et al.   NEURON

TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A

(2022) X. Rosa Ma et al.   NATURE

Searching Far and Genome-Wide: The Relevance of Association Studies in Amyotrophic Lateral Sclerosis

(2021) Kelly A. Rich et al.   Frontiers in Neuroscience

Novel STMN2 Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical Phenotype

(2021) Frances Theunissen et al.   Frontiers in Aging Neuroscience

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

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

(2020) Ryoichi Nakamura et al.   Communications Biology

The STRING database in 2021: customizable protein–protein networks, and functional characterization of user-uploaded gene/measurement sets

(2020) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

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

Atypical Motor Neuron Disease variants: Still a diagnostic challenge in Neurology

(2019) W.B.V.R. Pinto et al.   REVUE NEUROLOGIQUE

Genetics of amyotrophic lateral sclerosis: A review

(2019) Stéphane Mathis et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

(2019) Rita Mejzini et al.   Frontiers in Neuroscience

In Silico Labeling: Predicting Fluorescent Labels in Unlabeled Images

(2018) Eric M. Christiansen et al.   CELL

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

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

(2018) Ruth Chia et al.   LANCET NEUROLOGY

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

(2018) Aude Nicolas et al.   NEURON

Cognitive and behavioural changes in PLS and PMA:challenging the concept of restricted phenotypes

(2018) Bálint S de Vries et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Biomolecular condensates: organizers of cellular biochemistry

(2017) Salman F. Banani et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis

(2017) Beben Benyamin et al.   Nature Communications

Mechanisms of FUS mutations in familial amyotrophic lateral sclerosis

(2016) Yulei Shang et al.   BRAIN RESEARCH

Pathogenesis of amyotrophic lateral sclerosis

(2016) Sarah Morgan et al.   BRITISH MEDICAL BULLETIN

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

(2016) Wouter van Rheenen et al.   NATURE GENETICS

Whole-genome mutational landscape and characterization of noncoding and structural mutations in liver cancer

(2016) Akihiro Fujimoto et al.   NATURE GENETICS

Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges

(2015) Giuseppe Marangi et al.   BRAIN RESEARCH

Neuropathology of Amyotrophic Lateral Sclerosis and Its Variants

(2015) Shahram Saberi et al.   NEUROLOGIC CLINICS

TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD

(2015) J. P. Ling et al.   SCIENCE

Protein aggregation in amyotrophic lateral sclerosis

(2013) Anna M. Blokhuis et al.   ACTA NEUROPATHOLOGICA

Changes in cognition and behaviour in amyotrophic lateral sclerosis: nature of impairment and implications for assessment

(2013) Laura H Goldstein et al.   LANCET NEUROLOGY

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

(2013) Hong Joo Kim et al.   NATURE

Co-aggregation of RNA binding proteins in ALS spinal motor neurons: evidence of a common pathogenic mechanism

(2012) Brian A. Keller et al.   ACTA NEUROPATHOLOGICA

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

(2012) C. J. Mahoney et al.   BRAIN

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

(2012) Julien Couthouis et al.   HUMAN MOLECULAR GENETICS

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

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

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

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

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

An estimate of amyotrophic lateral sclerosis heritability using twin data

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

A Mutation that Creates a Pseudoexon inSOD1Causes Familial ALS

(2009) Paul N. Valdmanis et al.   ANNALS OF HUMAN GENETICS

Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis

(2009) G. S. Pesiridis et al.   HUMAN MOLECULAR GENETICS

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

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

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

The role of transactive response DNA-binding protein-43 in amyotrophic lateral sclerosis and frontotemporal dementia

(2008) Ian RA Mackenzie et al.   CURRENT OPINION IN NEUROLOGY

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

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

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

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