Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort

A distinct clinical phenotype in a German kindred with motor neuron disease carrying aCHCHD10mutation

(2015) Delia Kurzwelly et al.   BRAIN

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

(2015) Giuseppe Marangi et al.   BRAIN RESEARCH

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Emerging mechanisms of molecular pathology in ALS

(2015) Owen M. Peters et al.   JOURNAL OF CLINICAL INVESTIGATION

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis

(2015) Jonathan D Rohrer et al.   LANCET NEUROLOGY

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis

(2015) Sarah Morgan et al.   NEUROBIOLOGY OF AGING

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes

(2014) Janet Cady et al.   ANNALS OF NEUROLOGY

Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

(2014) Kathrin Müller et al.   BRAIN

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

(2014) Sylvie Bannwarth et al.   BRAIN

Genetic heterogeneity of amyotrophic lateral sclerosis: Implications for clinical practice and research

(2014) Xiaowei W. Su et al.   MUSCLE & NERVE

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Amyotrophic Lateral Sclerosis Genetic Studies

(2014) Ji He et al.   NEUROSCIENTIST

UniProt: a hub for protein information

(2014)   NUCLEIC ACIDS RESEARCH

Targeted Exon Capture and Sequencing in Sporadic Amyotrophic Lateral Sclerosis

(2014) Julien Couthouis et al.   PLoS Genetics

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons

(2013) Leonardo Aliaga et al.   HUMAN MOLECULAR GENETICS

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing

(2013) Kevin P Kenna et al.   JOURNAL OF MEDICAL GENETICS

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis

(2013) A. Cannon et al.   NEUROLOGY

Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease

(2013) Y. Izumi et al.   NEUROLOGY

Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis

(2013) Susan Byrne et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

SYNE1Mutations in Autosomal Recessive Cerebellar Ataxia

(2013) Anne Noreau et al.   JAMA Neurology

SPG7mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

(2012) E Sánchez-Ferrero et al.   CLINICAL GENETICS

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

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

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

(2012) Olubunmi Abel et al.   HUMAN MUTATION

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

No association of five candidate genetic variants with amyotrophic lateral sclerosis in a Chinese population

(2012) YongPing Chen et al.   NEUROBIOLOGY OF AGING

Screening for rare variants in the coding region of ALS-associated genes at 9p21.2 and 19p13.3

(2012) Max Koppers et al.   NEUROBIOLOGY OF AGING

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

(2012) A. Chio et al.   NEUROLOGY

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Novel pathogenic mutations and copy number variations in the VPS13A Gene in patients with chorea-acanthocytosis

(2011) Akiyuki Tomiyasu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

FUS mutations in sporadic amyotrophic lateral sclerosis: Clinical and genetic analysis

(2011) William Sproviero et al.   NEUROBIOLOGY OF AGING

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 Spectrum of Mutations in Progranulin

(2010) Chang-En Yu et al.   ARCHIVES OF NEUROLOGY

Functional evaluation of paraplegin mutations by a yeast complementation assay

(2010) Florian Bonn et al.   HUMAN MUTATION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

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

A thorough assessment of benign genetic variability inGRNandMAPT

(2009) Rita J. Guerreiro et al.   HUMAN MUTATION

ALS-linked P56S-VAPB, an aggregated loss-of-function mutant of VAPB, predisposes motor neurons to ER stress-related death by inducing aggregation of co-expressed wild-type VAPB

(2009) Hiroaki Suzuki et al.   JOURNAL OF NEUROCHEMISTRY

TDP-43 M311V mutation in familial amyotrophic lateral sclerosis

(2009) R Lemmens et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

No evidence of association of FLJ10986 and ITPR2 with ALS in a large German cohort

(2009) Rubén Fernández-Santiago et al.   NEUROBIOLOGY OF AGING

Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations

(2008) Stuart M. Pickering-Brown et al.   BRAIN

Novel progranulin mutation: Screening for PGRN mutations in a Portuguese series of FTD/CBS cases

(2008) Rita Joao Guerreiro et al.   MOVEMENT DISORDERS

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes

(2008) F. Brugman et al.   NEUROLOGY

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

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

Progranulin genetic variability contributes to amyotrophic lateral sclerosis

(2008) K. Sleegers et al.   NEUROLOGY

STRING 8--a global view on proteins and their functional interactions in 630 organisms

(2008) L. J. Jensen et al.   NUCLEIC ACIDS RESEARCH