Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons
出版年份 2015 全文链接
标题
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons
作者
关键词
-
出版物
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 24, Issue 5, Pages 710-716
出版商
Springer Nature
发表日期
2015-08-05
DOI
10.1038/ejhg.2015.173
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。- Diagnostic impact of CSF biomarkers for Alzheimer's disease in a tertiary memory clinic
- (2015) Flora H. Duits et al. Alzheimers & Dementia
- A Novel Presenilin 1 Mutation in Early-Onset Alzheimer’s Disease With Prominent Frontal Features
- (2014) Haakon B. Nygaard et al. American Journal of Alzheimers Disease and Other Dementias
- Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform
- (2014) Erika Della Mina et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Advancing research diagnostic criteria for Alzheimer's disease: the IWG-2 criteria
- (2014) Bruno Dubois et al. LANCET NEUROLOGY
- Whole-genome sequence variation, population structure and demographic history of the Dutch population
- (2014) Laurent C Francioli et al. NATURE GENETICS
- A nonsense mutation in PRNP associated with clinical Alzheimer's disease
- (2014) Rita Guerreiro et al. NEUROBIOLOGY OF AGING
- Large APP locus duplication in a sporadic case of cerebral haemorrhage
- (2014) Albert Lladó et al. NEUROGENETICS
- Next Generation Sequencing and the Future of Genetic Diagnosis
- (2014) Katja Lohmann et al. Neurotherapeutics
- Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population
- (2013) Jon Beck et al. AMERICAN JOURNAL OF HUMAN 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
- Impact of cerebro-spinal fluid biomarkers of Alzheimer’s disease in clinical practice: a multicentric study
- (2013) François Mouton-Liger et al. JOURNAL OF NEUROLOGY
- CSF biomarkers for Alzheimer’s pathology and the effect size of APOE ɛ4
- (2013) U Andreasson et al. MOLECULAR PSYCHIATRY
- Disease-targeted sequencing: a cornerstone in the clinic
- (2013) Heidi L. Rehm NATURE REVIEWS GENETICS
- Validation of next-generation sequencing technologies in genetic diagnosis of dementia
- (2013) John Beck et al. NEUROBIOLOGY OF AGING
- Progranulin Mutations as Risk Factors for Alzheimer Disease
- (2013) David C. Perry et al. JAMA Neurology
- Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians
- (2012) Martin A. Kohli et al. NEUROBIOLOGY OF AGING
- Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
- (2012) Joep de Ligt et al. NEW ENGLAND JOURNAL OF MEDICINE
- Variant of TREM2 Associated with the Risk of Alzheimer's Disease
- (2012) Thorlakur Jonsson et al. NEW ENGLAND JOURNAL OF MEDICINE
- TREM2 Variants in Alzheimer's Disease
- (2012) Rita Guerreiro et al. NEW ENGLAND JOURNAL OF MEDICINE
- The diagnosis of dementia due to Alzheimer’s disease: Recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer's disease
- (2011) Guy M. McKhann et al. Alzheimers & Dementia
- Familial prion disease with alzheimer disease-like tau pathology and clinical phenotype
- (2011) Suman Jayadev et al. ANNALS OF NEUROLOGY
- APOE and Alzheimer disease: a major gene with semi-dominant inheritance
- (2011) E Genin et al. MOLECULAR PSYCHIATRY
- Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease
- (2011) Rita João Guerreiro et al. NEUROBIOLOGY OF AGING
- Cerebrospinal fluid markers for differential dementia diagnosis in a large memory clinic cohort
- (2011) N. S. M. Schoonenboom et al. NEUROLOGY
- Unlocking Mendelian disease using exome sequencing
- (2011) Christian Gilissen et al. GENOME BIOLOGY
- Fast and accurate long-read alignment with Burrows–Wheeler transform
- (2010) Heng Li et al. BIOINFORMATICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- 11C-PiB PET assessment of change in fibrillar amyloid-β load in patients with Alzheimer's disease treated with bapineuzumab: a phase 2, double-blind, placebo-controlled, ascending-dose study
- (2010) Juha O Rinne et al. LANCET NEUROLOGY
- Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series
- (2010) Daniel McNaughton et al. NEUROBIOLOGY OF AGING
- Alzheimer's Disease Neuroimaging Initiative (ADNI): Clinical characterization
- (2009) R. C. Petersen et al. NEUROLOGY
- Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP
- (2008) Rita Joao Guerreiro et al. NEUROBIOLOGY OF AGING
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