Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing
出版年份 2013 全文链接
标题
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing
作者
关键词
-
出版物
JOURNAL OF MEDICAL GENETICS
Volume 50, Issue 11, Pages 776-783
出版商
BMJ
发表日期
2013-07-25
DOI
10.1136/jmedgenet-2013-101795
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Using Reference Databases of Genetic Variation to Evaluate the Potential Pathogenicity of Candidate Disease Variants
- (2013) Kevin P. Kenna et al. HUMAN MUTATION
- Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis
- (2013) Matthew B. Harms et al. NEUROBIOLOGY OF AGING
- SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: A United States clinical testing lab experience
- (2012) Jeffrey A. Brown et al. Amyotrophic Lateral Sclerosis
- 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
- Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study
- (2012) Susan Byrne et al. LANCET 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
- Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS
- (2012) Min-Jung Kwon et al. NEUROBIOLOGY OF AGING
- Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease
- (2012) S. Lattante et al. NEUROLOGY
- Extensive genetics of ALS: A population-based study in Italy
- (2012) A. Chio et al. NEUROLOGY
- Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
- (2012) J. A. Tennessen et al. SCIENCE
- Proposed criteria for familial amyotrophic lateral sclerosis
- (2011) Susan Byrne et al. Amyotrophic Lateral Sclerosis
- SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
- (2011) Faisal Fecto ARCHIVES OF NEUROLOGY
- Modelling the Effects of Penetrance and Family Size on Rates of Sporadic and Familial Disease
- (2011) Ammar Al-Chalabi et al. HUMAN HEREDITY
- Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
- (2011) Han-Xiang Deng et al. NATURE
- P525L FUS mutation is consistently associated with a severe form of juvenile Amyotrophic Lateral Sclerosis
- (2011) Amelia Conte et al. NEUROMUSCULAR DISORDERS
- Ensembl 2012
- (2011) P. Flicek et al. NUCLEIC ACIDS RESEARCH
- Testing for an Unusual Distribution of Rare Variants
- (2011) Benjamin M. Neale et al. PLoS Genetics
- Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
- (2010) William McLaren et al. BIOINFORMATICS
- Fast and accurate long-read alignment with Burrows–Wheeler transform
- (2010) Heng Li et al. BIOINFORMATICS
- SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis
- (2010) A. Orlacchio et al. BRAIN
- Multiplex Target Enrichment Using DNA Indexing for Ultra-High Throughput SNP Detection
- (2010) E. M. Kenny et al. DNA RESEARCH
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations
- (2010) S. Millecamps et al. JOURNAL OF MEDICAL GENETICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- High frequency ofTARDBPgene mutations in Italian patients with amyotrophic lateral sclerosis
- (2009) Lucia Corrado et al. HUMAN MUTATION
- Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis
- (2009) M. A. van Es et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis
- (2009) Janine Kirby et al. NEUROGENETICS
- Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease
- (2009) I. Le Ber et al. NEUROLOGY
- TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
- (2008) Edor Kabashi et al. NATURE GENETICS
- Identification of genetic variants using bar-coded multiplexed sequencing
- (2008) David W Craig et al. NATURE METHODS
- Epidemiology and clinical features of amyotrophic lateral sclerosis in Ireland between 1995 and 2004
- (2007) O O'Toole et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
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