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

Prion-like domains as epigenetic regulators, scaffolds for subcellular organization, and drivers of neurodegenerative disease

(2016) Zachary M. March et al.   BRAIN RESEARCH

How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era

(2016) David Salgado et al.   HUMAN MUTATION

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

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

(2016) Wouter van Rheenen et al.   NATURE GENETICS

Muscleblind-like 3 deficit results in a spectrum of age-associated pathologies observed in myotonic dystrophy

(2016) Jongkyu Choi et al.   Scientific Reports

Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy

(2015) Johnathan Cooper-Knock et al.   ACTA NEUROPATHOLOGICA

Phase Separation by Low Complexity Domains Promotes Stress Granule Assembly and Drives Pathological Fibrillization

(2015) Amandine Molliex et al.   CELL

The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis

(2015) Johnathan Cooper-Knock et al.   Neurotherapeutics

Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms

(2015) Donald M. Dixon et al.   Scientific Reports

Functions of FUS/TLS From DNA Repair to Stress Response: Implications for ALS

(2014) Reddy Ranjith Kumar Sama et al.   ASN Neuro

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

(2014) Johnathan Cooper-Knock et al.   BRAIN

Focality, stochasticity and neuroanatomic propagation in ALS pathogenesis

(2014) John Ravits   EXPERIMENTAL NEUROLOGY

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

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

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

A novel compound heterozygousALS2mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis

(2013) Marco Luigetti et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72

(2012) Johnathan Cooper-Knock et al.   BRAIN

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

(2012) Marka van Blitterswijk et al.   HUMAN MOLECULAR GENETICS

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

The eEF1γ Subunit Contacts RNA Polymerase II and Binds Vimentin Promoter Region

(2011) Nicoletta Corbi 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

Senataxin mutations and amyotrophic lateral sclerosis

(2010) Michio Hirano et al.   Amyotrophic Lateral Sclerosis

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Episodic Ataxia Associated With EAAT1 Mutation C186S Affecting Glutamate Reuptake

(2009) Boukje de Vries et al.   ARCHIVES OF NEUROLOGY

A Systematic Survey Identifies Prions and Illuminates Sequence Features of Prionogenic Proteins

(2009) Simon Alberti et al.   CELL

Drosophila Translational Elongation Factor-1  Is Modified in Response to DOA Kinase Activity and Is Essential for Cellular Viability

(2009) Y. Fan et al.   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

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

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