标题
Mutation spectrum of amyotrophic lateral sclerosis in Central South China
作者
关键词
Amyotrophic lateral sclerosis, Genetic spectrum, Oligogenic inheritance, Age at onset, Rare damage variants
出版物
NEUROBIOLOGY OF AGING
Volume -, Issue -, Pages -
出版商
Elsevier BV
发表日期
2021-06-19
DOI
10.1016/j.neurobiolaging.2021.06.008
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Clinical and genetic features of patients with amyotrophic lateral sclerosis in southern China
- (2020) W. Chen et al. EUROPEAN JOURNAL OF NEUROLOGY
- A Novel Potentially Pathogenic Rare Variant in the DNAJC7 Gene Identified in Amyotrophic Lateral Sclerosis Patients From Mainland China
- (2020) Mengli Wang et al. Frontiers in Genetics
- Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis
- (2019) Johnathan Cooper-Knock et al. Cell Reports
- Genetics of amyotrophic lateral sclerosis: A review
- (2019) Stéphane Mathis et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Ageing as a risk factor for neurodegenerative disease
- (2019) Yujun Hou et al. Nature Reviews Neurology
- Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein
- (2019) Sali M. K. Farhan et al. NATURE NEUROSCIENCE
- The epidemiology and genetics of Amyotrophic lateral sclerosis in China
- (2018) Xiaolu Liu et al. BRAIN RESEARCH
- Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications
- (2018) Ruth Chia et al. LANCET NEUROLOGY
- Analysis of ATXN2 trinucleotide repeats in Korean patients with amyotrophic lateral sclerosis
- (2018) Young-Eun Kim et al. NEUROBIOLOGY OF AGING
- Intermediate-length CAG repeat in ATXN2 is associated with increased risk for amyotrophic lateral sclerosis in Brazilian patients
- (2018) Helen Maia Tavares de Andrade et al. NEUROBIOLOGY OF AGING
- OUP accepted manuscript
- (2018) NUCLEIC ACIDS RESEARCH
- Screening for possible oligogenic pathogenesis in Chinese sporadic ALS patients
- (2018) Hang Zhang et al. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
- Prevalence and incidence of clinically diagnosed Alzheimer's disease dementia from 1994 to 2012 in a population study
- (2018) Kumar B. Rajan et al. Alzheimers & Dementia
- Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying theC9orf72expansion mutation
- (2017) Oriol Dols-Icardo et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Burden of rare variants in ALS genes influences survival in familial and sporadic ALS
- (2017) Shirley Yin-Yu Pang et al. NEUROBIOLOGY OF AGING
- Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis
- (2017) Ayumi Nishiyama et al. NEUROBIOLOGY OF AGING
- Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype
- (2017) Johnathan Cooper-Knock et al. Frontiers in Molecular Neuroscience
- Amyotrophic lateral sclerosis and motor neuron syndromes in Asia
- (2016) N Shahrizaila et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- The epidemiology of Parkinson's disease: risk factors and prevention
- (2016) Alberto Ascherio et al. LANCET NEUROLOGY
- ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion
- (2016) Adriano Chiò et al. NEUROBIOLOGY OF AGING
- Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China
- (2016) Lihua Hou et al. Scientific Reports
- A revision of the El Escorial criteria - 2015
- (2015) Albert Ludolph et al. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
- Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis
- (2014) Hannah M. Kaneb et al. HUMAN MOLECULAR GENETICS
- Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system
- (2014) Zhi-Jun Liu et al. NEUROBIOLOGY OF AGING
- State of play in amyotrophic lateral sclerosis genetics
- (2013) Alan E Renton et al. NATURE NEUROSCIENCE
- The epidemiology of ALS: a conspiracy of genes, environment and time
- (2013) Ammar Al-Chalabi et al. Nature Reviews Neurology
- Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China
- (2013) Bin Jiao et al. NEUROBIOLOGY OF AGING
- Global Epidemiology of Amyotrophic Lateral Sclerosis: A Systematic Review of the Published Literature
- (2013) A. Chiò et al. NEUROEPIDEMIOLOGY
- Evidence for an oligogenic basis of amyotrophic lateral sclerosis
- (2012) Marka van Blitterswijk et al. HUMAN MOLECULAR GENETICS
- VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient
- (2012) Marka van Blitterswijk et al. NEUROBIOLOGY OF AGING
- Isolated bulbar phenotype of amyotrophic lateral sclerosis
- (2011) James R. Burrell et al. Amyotrophic Lateral Sclerosis
- A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study
- (2011) Ilse Gijselinck et al. LANCET NEUROLOGY
- An estimate of amyotrophic lateral sclerosis heritability using twin data
- (2010) A. Al-Chalabi et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
- (2010) Andrew C. Elden et al. NATURE
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Incidence of amyotrophic lateral sclerosis in Europe
- (2009) G. Logroscino et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
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