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Kevin P. Kenna et al.
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Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis
Matthew B. Harms et al.
NEUROBIOLOGY OF AGING (2013)
SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: A United States clinical testing lab experience
Jeffrey A. Brown et al.
AMYOTROPHIC LATERAL SCLEROSIS (2012)
Evidence for an oligogenic basis of amyotrophic lateral sclerosis
Marka van Blitterswijk et al.
HUMAN MOLECULAR GENETICS (2012)
ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics
Olubunmi Abel et al.
HUMAN MUTATION (2012)
Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study (vol 11, pg 232, 2012)
S. Byrne et al.
LANCET NEUROLOGY (2012)
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Elisa Majounie et al.
LANCET NEUROLOGY (2012)
An integrated map of genetic variation from 1,092 human genomes
David M. Altshuler et al.
NATURE (2012)
Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS
Min-Jung Kwon et al.
NEUROBIOLOGY OF AGING (2012)
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease
Serena Lattante et al.
NEUROLOGY (2012)
Extensive genetics of ALS A population-based study in Italy
Adriano Chio et al.
NEUROLOGY (2012)
P525L FUS mutation is consistently associated with a severe form of juvenile Amyotrophic Lateral Sclerosis
Amelia Conte et al.
NEUROMUSCULAR DISORDERS (2012)
Ensembl 2012
Paul Flicek et al.
NUCLEIC ACIDS RESEARCH (2012)
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
Jacob A. Tennessen et al.
SCIENCE (2012)
Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study
Susan Byrne et al.
LANCET NEUROLOGY (2012)
Proposed criteria for familial amyotrophic lateral sclerosis
Susan Byrne et al.
AMYOTROPHIC LATERAL SCLEROSIS (2011)
SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
Faisal Fecto et al.
ARCHIVES OF NEUROLOGY (2011)
Multiplex Target Enrichment Using DNA Indexing for Ultra-High Throughput SNP Detection
Elaine M. Kenny et al.
DNA RESEARCH (2011)
Modelling the Effects of Penetrance and Family Size on Rates of Sporadic and Familial Disease
Ammar Al-Chalabi et al.
HUMAN HEREDITY (2011)
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
Han-Xiang Deng et al.
NATURE (2011)
Testing for an Unusual Distribution of Rare Variants
Benjamin M. Neale et al.
PLOS GENETICS (2011)
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
William McLaren et al.
BIOINFORMATICS (2010)
Fast and accurate long-read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2010)
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis
Antonio Orlacchio et al.
BRAIN (2010)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotyp-phenotype correlations
Stephanie Millecamps et al.
JOURNAL OF MEDICAL GENETICS (2010)
Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis
Michael A. van Es et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis
Janine Kirby et al.
NEUROGENETICS (2010)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
High Frequency of TARDBP Gene Mutations in Italian Patients With Amyotrophic Lateral Sclerosis
Lucia Corrado et al.
HUMAN MUTATION (2009)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease
I. Le Ber et al.
NEUROLOGY (2009)
Epidemiology and clinical features of amyotrophic lateral sclerosis in Ireland between 1995 and 2004
O. O'Toole et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2008)
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
Edor Kabashi et al.
NATURE GENETICS (2008)
Identification of genetic variants using bar-coded multiplexed sequencing
David W. Craig et al.
NATURE METHODS (2008)
A genome-wide association study of sporadic ALS in a homogenous Irish population
Simon Cronin et al.
HUMAN MOLECULAR GENETICS (2008)
PLINK: A tool set for whole-genome association and population-based linkage analyses
Shaun Purcell et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Amyotrophic lateral sclerosis in an urban setting - A population based study of inner city London
Clare A. Johnston et al.
JOURNAL OF NEUROLOGY (2006)
Familial ALS in Germany:: origin of the R115G SOD1 mutation by a founder effect
S Niemann et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2004)
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
Y Yang et al.
NATURE GENETICS (2001)