High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis
Published 2017 View Full Article
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Title
High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis
Authors
Keywords
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Journal
Brain and Behavior
Volume 7, Issue 4, Pages e00669
Publisher
Wiley
Online
2017-03-16
DOI
10.1002/brb3.669
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Related references
Note: Only part of the references are listed.- Mechanisms of FUS mutations in familial amyotrophic lateral sclerosis
- (2016) Yulei Shang et al. BRAIN RESEARCH
- ClinVar: public archive of interpretations of clinically relevant variants
- (2015) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
- (2015) E. T. Cirulli et al. SCIENCE
- A revision of the El Escorial criteria - 2015
- (2015) Albert Ludolph et al. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
- Recent progress in the genetics of motor neuron disease
- (2014) Josef Finsterer et al. European Journal of Medical Genetics
- Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications
- (2014) Andy Rimmer et al. NATURE GENETICS
- A novel heterozygous SETX mutation in a patient presenting with chorea and motor neuron disease
- (2014) Enrico Saracchi et al. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
- Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing
- (2013) Kevin P Kenna et al. JOURNAL OF MEDICAL GENETICS
- ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics
- (2012) Olubunmi Abel et al. HUMAN MUTATION
- Fast gapped-read alignment with Bowtie 2
- (2012) Ben Langmead et al. NATURE METHODS
- 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
- Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression
- (2011) Francesca Avemaria et al. Amyotrophic Lateral Sclerosis
- Kaviar: an accessible system for testing SNV novelty
- (2011) Gustavo Glusman et al. BIOINFORMATICS
- Integrative genomics viewer
- (2011) James T Robinson et al. NATURE BIOTECHNOLOGY
- 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
- Senataxin mutations and amyotrophic lateral sclerosis
- (2010) Michio Hirano et al. Amyotrophic Lateral Sclerosis
- BEDTools: a flexible suite of utilities for comparing genomic features
- (2010) Aaron R. Quinlan et al. BIOINFORMATICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p
- (2010) Justin P. Pearson et al. JOURNAL OF NEUROLOGY
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
- (2009) M. Anheim et al. BRAIN
- Human Splicing Finder: an online bioinformatics tool to predict splicing signals
- (2009) François-Olivier Desmet et al. NUCLEIC ACIDS RESEARCH
- A novel mutation in thesenataxingene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis
- (2008) Zhen-hua Zhao et al. Amyotrophic Lateral Sclerosis
- Awaji diagnostic algorithm increases sensitivity of El Escorial criteria for ALS diagnosis
- (2008) Mamede De Carvalho et al. Amyotrophic Lateral Sclerosis
- Genetics of familial amyotrophic lateral sclerosis
- (2008) P. N. Valdmanis et al. NEUROLOGY
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