State of play in amyotrophic lateral sclerosis genetics

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

(2013) Elisa Teyssou et al.   ACTA NEUROPATHOLOGICA

Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion

(2013) Zhengrui Xi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

(2013) Jon Beck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

(2013) Suzanne Lesage et al.   BRAIN

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

Controversies and priorities in amyotrophic lateral sclerosis

(2013) Martin R Turner 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

Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis

(2013) Min Deng et al.   NATURE GENETICS

Exome sequencing to identify de novo mutations in sporadic ALS trios

(2013) Alessandra Chesi et al.   NATURE NEUROSCIENCE

Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels

(2013) Fernando Bartolome et al.   NEURON

CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome

(2013) Peter K. Todd et al.   NEURON

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

(2012) A. Chio et al.   BRAIN

Toward an integrative view of Optineurin functions

(2012) David Kachaner et al.   CELL CYCLE

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

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

ALS/FTD phenotype in two Sardinian families carrying bothC9ORF72andTARDBPmutations

(2012) Adriano Chiò et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans

(2012) Annelies Van Hoecke et al.   NATURE MEDICINE

Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs

(2012) Clotilde Lagier-Tourenne et al.   NATURE NEUROSCIENCE

Extensive genetics of ALS: A population-based study in Italy

(2012) A. Chio et al.   NEUROLOGY

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2012) E. Rubino et al.   NEUROLOGY

Repeat Expansion inC9ORF72in Alzheimer's Disease

(2012) Elisa Majounie et al.   NEW ENGLAND JOURNAL OF MEDICINE

A High-Density Genome-Wide Association Screen of Sporadic ALS in US Veterans

(2012) Lydia Coulter Kwee et al.   PLoS One

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

(2012) Pietro Fratta et al.   Scientific Reports

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

(2011) Michael A. van Es et al.   ANNALS OF NEUROLOGY

Large Proportion of Amyotrophic Lateral Sclerosis Cases in Sardinia Due to a Single Founder Mutation of the TARDBP Gene

(2011) Adriano Chiò   ARCHIVES OF NEUROLOGY

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

(2011)   LANCET

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

(2011) Paul Hollingworth et al.   NATURE GENETICS

VCP mutations in familial and sporadic amyotrophic lateral sclerosis

(2011) Max Koppers et al.   NEUROBIOLOGY OF AGING

Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS

(2011) M. DeJesus-Hernandez et al.   NEUROLOGY

Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2

(2011) P. Van Damme et al.   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

FUS and TARDBP but Not SOD1 Interact in Genetic Models of Amyotrophic Lateral Sclerosis

(2011) Edor Kabashi et al.   PLoS Genetics

Analysis of the UNC13A Gene as a Risk Factor for Sporadic Amyotrophic Lateral Sclerosis

(2010) Hussein Daoud et al.   ARCHIVES OF NEUROLOGY

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis

(2010) Mariely DeJesus-Hernandez et al.   HUMAN MUTATION

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

(2010) S. Millecamps et al.   JOURNAL OF MEDICAL GENETICS

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

(2010) Hannu Laaksovirta et al.   LANCET NEUROLOGY

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

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone

(2010) Omar M E Albagha et al.   NATURE GENETICS

A de novo missense mutation of the FUS gene in a “true” sporadic ALS case

(2010) Adriano Chiò et al.   NEUROBIOLOGY OF AGING

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Mutations in CHMP2B in Lower Motor Neuron Predominant Amyotrophic Lateral Sclerosis (ALS)

(2010) Laura E. Cox et al.   PLoS One

Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients

(2010) B. J. Traynor et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase

(2010) J. Mitchell et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

(2009) Clement Y. Chow et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

(2009) Adriano Chiò 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

DCTN1 mutations in Perry syndrome

(2009) Matthew J Farrer et al.   NATURE GENETICS

No association of DPP6 with amyotrophic lateral sclerosis in an Italian population

(2009) Isabella Fogh et al.   NEUROBIOLOGY OF AGING

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

(2009) J. E. Landers et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

New VAPB deletion variant and exclusion of VAPB mutations in familial ALS

(2008) J. E. Landers et al.   NEUROLOGY

Prevalence of SOD1 mutations in the Italian ALS population

(2008) A. Chio et al.   NEUROLOGY

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE