Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database

PON1 is a disease modifier gene in amyotrophic lateral sclerosis: association of the Q192R polymorphism with bulbar onset and reduced survival

(2019) Federico Verde et al.   NEUROLOGICAL SCIENCES

ST-Steiner: a spatio-temporal gene discovery algorithm

(2019) Utku Norman et al.   BIOINFORMATICS

Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis

(2019) Annelot M. Dekker et al.   Scientific Reports

A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID

(2019) Fulya Akçimen et al.   JOURNAL OF HUMAN GENETICS

Hot-spot KIF5A mutations cause familial ALS

(2018) David Brenner et al.   BRAIN

ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree

(2018) Ceren Tunca et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients

(2018) Merit Lamp et al.   NEUROBIOLOGY OF AGING

Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2

(2018) Hamid Hamzeiy et al.   Neurodegenerative Diseases

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

Interactome analyses revealed that the U1 snRNP machinery overlaps extensively with the RNAP II machinery and contains multiple ALS/SMA-causative proteins

(2018) Binkai Chi et al.   Scientific Reports

VarSome: the human genomic variant search engine

(2018) Christos Kopanos et al.   BIOINFORMATICS

The changing picture of amyotrophic lateral sclerosis: lessons from European registers

(2017) Orla Hardiman et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2017) Jennifer A. Fifita et al.   Neurodegenerative Diseases

Amyotrophic Lateral Sclerosis

(2017) Robert H. Brown et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

(2017) Bradley N. Smith et al.   Science Translational Medicine

k-Shell decomposition reveals structural properties of the gene coexpression network for neurodevelopment

(2017) A. Ercüment ÇİÇEK   TURKISH JOURNAL OF BIOLOGY

Genetics of Amyotrophic Lateral Sclerosis

(2017) Mehdi Ghasemi et al.   Cold Spring Harbor Perspectives in Medicine

Cytoplasmic Relocalization of TAR DNA-Binding Protein 43 Is Not Sufficient to Reproduce Cellular Pathologies Associated with ALS In vitro

(2017) Heike J. Wobst et al.   Frontiers in Molecular Neuroscience

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The role ofDNAJB2in amyotrophic lateral sclerosis

(2016) Marina Frasquet et al.   BRAIN

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study

(2016) Matthis Synofzik et al.   BRAIN

ALS: Recent Developments from Genetics Studies

(2016) Martine Therrien et al.   Current Neurology and Neuroscience Reports

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

(2016) Daniel Trujillano et al.   EUROPEAN JOURNAL OF HUMAN 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

Novel motor phenotypes in patients withVRK1mutations without pontocerebellar hypoplasia

(2016) Marion Stoll et al.   NEUROLOGY

DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants

(2016) Janet Piñero et al.   NUCLEIC ACIDS RESEARCH

TDP-43/FUS in motor neuron disease: Complexity and challenges

(2016) Erika N. Guerrero et al.   PROGRESS IN NEUROBIOLOGY

Network assisted analysis to reveal the genetic basis of autism

(2015) Li Liu et al.   Annals of Applied Statistics

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

The distinct genetic pattern of ALS in Turkey and novel mutations

(2015) Aslıhan Özoğuz et al.   NEUROBIOLOGY OF AGING

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

(2015) Annemarie Hübers et al.   NEUROBIOLOGY OF AGING

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

(2015) Stephan J. Sanders et al.   NEURON

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2

(2014) Ellen Cottenie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

(2014) Brent L. Fogel et al.   JAMA Neurology

DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics

(2014) Li Liu et al.   Molecular Autism

A Dominant Mutation in FBXO38 Causes Distal Spinal Muscular Atrophy with Calf Predominance

(2013) Charlotte J. Sumner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19

(2013) Yuji Takahashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sequence Kernel Association Tests for the Combined Effect of Rare and Common Variants

(2013) Iuliana Ionita-Laza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

(2013) Come Raczy et al.   BIOINFORMATICS

GeneRIF indexing: sentence selection based on machine learning

(2013) Antonio J Jimeno-Yepes et al.   BMC BIOINFORMATICS

Is SOD1 loss of function involved in amyotrophic lateral sclerosis?

(2013) Rachele A. Saccon et al.   BRAIN

Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown–Vialetto–Van Laere syndrome

(2013) Atchayaram Nalini et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Paraoxonase 1 in neurological disorders

(2013) Teresita Menini et al.   REDOX REPORT

The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement

(2012) Hiroyuki Ishiura et al.   AMERICAN JOURNAL OF HUMAN GENETICS

VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer

(2012) Jamie K. Teer et al.   BIOINFORMATICS

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

Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS

(2012) Matthis Synofzik et al.   HUMAN MOLECULAR GENETICS

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

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

ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes

(2012) S. T. Bot et al.   JOURNAL OF NEUROLOGY

C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis

(2012) M. Deschauer et al.   JOURNAL OF 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

Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis

(2012) Kotaro Ogaki et al.   NEUROBIOLOGY OF AGING

Allen Brain Atlas: an integrated spatio-temporal portal for exploring the central nervous system

(2012) Susan M. Sunkin et al.   NUCLEIC ACIDS RESEARCH

ATXN2 and Its Neighbouring Gene SH2B3 Are Associated with Increased ALS Risk in the Turkish Population

(2012) Suna Lahut et al.   PLoS One

A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis

(2011) Amr Al-Saif et al.   ANNALS OF NEUROLOGY

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Amyotrophic lateral sclerosis

(2011) Matthew C Kiernan et al.   LANCET

Paraoxonase gene mutations in amyotrophic lateral sclerosis

(2010) Nicola Ticozzi et al.   ANNALS OF NEUROLOGY

Coexpression network analysis of neural tissue reveals perturbations in developmental processes in schizophrenia

(2010) A. Torkamani et al.   GENOME RESEARCH

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Differential Histone Deacetylase mRNA Expression Patterns in Amyotrophic Lateral Sclerosis

(2010) Claas Janssen et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL 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

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

ALS-linked mutant superoxide dismutase 1 (SOD1) alters mitochondrial protein composition and decreases protein import

(2010) Q. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Atlastin-1, the dynamin-like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum

(2009) Marie-Paule Muriel et al.   JOURNAL OF NEUROCHEMISTRY

A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS

(2009) A. -M. Wills et al.   NEUROLOGY

A common haplotype within the PON1 promoter region is associated with sporadic ALS

(2008) John E. Landers et al.   Amyotrophic Lateral Sclerosis

VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: Review of a unique disorder

(2008) Virginia E. Kimonis et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro

(2008) Matthew J. Winton et al.   FEBS LETTERS