Gene discovery in amyotrophic lateral sclerosis: implications for clinical management

Full ablation of C9orf72 in mice causes immune system-related pathology and neoplastic events but no motor neuron defects

(2016) Emma Sudria-Lopez et al.   ACTA NEUROPATHOLOGICA

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

(2016) Monkol Lek et al.   NATURE

A spectral approach integrating functional genomic annotations for coding and noncoding variants

(2016) Iuliana Ionita-Laza et al.   NATURE GENETICS

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

Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts

(2016) N. J. Kramer et al.   SCIENCE

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

(2016) Kelly L. Williams et al.   Nature Communications

Association of a Locus in theCAMTA1Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

(2016) Isabella Fogh et al.   JAMA Neurology

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

(2016) Amanda Atanasio et al.   Scientific Reports

The NEK1 interactor, C21ORF2, is required for efficient DNA damage repair

(2015) Xiao Fang et al.   ACTA BIOCHIMICA ET BIOPHYSICA SINICA

Common polygenic variation enhances risk prediction for Alzheimer’s disease

(2015) Valentina Escott-Price et al.   BRAIN

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

Applications of CRISPR–Cas systems in neuroscience

(2015) Matthias Heidenreich et al.   NATURE REVIEWS NEUROSCIENCE

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

(2015) Annemarie Hübers et al.   NEUROBIOLOGY OF AGING

Oligogenic inheritance of optineurin (OPTN) andC9ORF72mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions ofC9ORF72-ALS

(2015) Joanna J. Bury et al.   NEUROPATHOLOGY

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Somatic mosaicism: implications for disease and transmission genetics

(2015) Ian M. Campbell et al.   TRENDS IN GENETICS

Evidence for a common evolutionary rate in metazoan transcriptional networks

(2015) Anne-Ruxandra Carvunis et al.   eLife

Heritability of Amyotrophic Lateral Sclerosis

(2015) Russell Lewis McLaughlin et al.   JAMA Neurology

C9orf72andUNC13Aare shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome-wide meta-analysis

(2014) Frank P. Diekstra et al.   ANNALS OF NEUROLOGY

A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping

(2014) Suhas S.P. Rao et al.   CELL

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

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

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

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

(2014) Bradley N. Smith et al.   NEURON

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

(2014) Joanna S. Amberger et al.   NUCLEIC ACIDS RESEARCH

The new frontier of genome engineering with CRISPR-Cas9

(2014) J. A. Doudna et al.   SCIENCE

The El Escorial criteria: Strengths and weaknesses

(2014) Federica Agosta et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: A population-based case-control cohort study of familial and sporadic amyotrophic lateral sclerosis

(2013) Susan Byrne et al.   ANNALS OF NEUROLOGY

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

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

(2013) A. Chio et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

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

(2013) Laura H Goldstein et al.   LANCET NEUROLOGY

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

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

Five Years of GWAS Discovery

(2012) Peter M. Visscher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Young-onset amyotrophic lateral sclerosis: historical and other observations

(2012) M. R. Turner et al.   BRAIN

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p

(2012) G.-Y. R. Hsiung et al.   BRAIN

The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

(2012) Bradley N Smith et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

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

Exome sequencing and complex disease: practical aspects of rare variant association studies

(2012) R. Do et al.   HUMAN MOLECULAR GENETICS

ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics

(2012) Olubunmi Abel et al.   HUMAN MUTATION

Absence of consensus in diagnostic criteria for familial neurodegenerative diseases

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

VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient

(2012) Marka van Blitterswijk et al.   NEUROBIOLOGY OF AGING

Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients

(2012) Lauren Johnson et al.   NEUROBIOLOGY OF AGING

Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients

(2012) Jack W. Miller et al.   NEUROBIOLOGY OF AGING

Amyotrophic lateral sclerosis, frontotemporal lobar dementia, and p62: A functional convergence?

(2012) S. H. Appel et al.   NEUROLOGY

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

(2011) Melissa E. Murray et al.   ACTA NEUROPATHOLOGICA

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

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

Adenylyl Cyclase type 3, a marker of primary cilia, is reduced in primary cell culture and in lumbar spinal cord in situ in G93A SOD1 mice

(2011) Xiaoxing Ma et al.   BMC NEUROSCIENCE

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

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

Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study

(2011) A. Chio et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Functional characterization of putative cilia genes by high-content analysis

(2011) Cary K. Lai et al.   MOLECULAR BIOLOGY OF THE CELL

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

(2011) Günter U Höglinger et al.   NATURE GENETICS

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

(2011) Peter M. Andersen et al.   Nature Reviews Neurology

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 Heritability of Amyotrophic Lateral Sclerosis in a Clinically Ascertained United States Research Registry

(2011) Thomas S. Wingo et al.   PLoS One

The sex ratio in amyotrophic lateral sclerosis: A population based study

(2010) Zita R. Manjaly et al.   Amyotrophic Lateral Sclerosis

Identification of 2 Loci at Chromosomes 9 and 14 in a Multiplex Family With Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

(2010) Ilse Gijselinck et al.   ARCHIVES OF NEUROLOGY

Mechanisms Underlying Inflammation in Neurodegeneration

(2010) Christopher K. Glass et al.   CELL

A large genome scan for rare CNVs in amyotrophic lateral sclerosis

(2010) Hylke M. Blauw et al.   HUMAN MOLECULAR GENETICS

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

(2010) Justin P. Pearson et al.   JOURNAL OF NEUROLOGY

Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family

(2010) A. L. Boxer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

An estimate of amyotrophic lateral sclerosis heritability using twin data

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

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

(2010) Aleksey Shatunov et al.   LANCET NEUROLOGY

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

(2010) Andrew C. Elden et al.   NATURE

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

ALSOD: The Amyotrophic Lateral Sclerosis Online Database

(2008) Richard Wroe et al.   Amyotrophic Lateral Sclerosis

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

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

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