标题
Next Generation Sequencing Analysis in Early Onset Dementia Patients
作者
关键词
-
出版物
JOURNAL OF ALZHEIMERS DISEASE
Volume 67, Issue 1, Pages 243-256
出版商
IOS Press
发表日期
2018-12-05
DOI
10.3233/jad-180482
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。- Polygenic risk score of sporadic late-onset Alzheimer's disease reveals a shared architecture with the familial and early-onset forms
- (2018) Carlos Cruchaga et al. Alzheimers & Dementia
- The effect of APOE and other common genetic variants on the onset of Alzheimer's disease and dementia: a community-based cohort study
- (2018) Sven J van der Lee et al. LANCET NEUROLOGY
- Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing
- (2018) Anna Bartoletti-Stella et al. NEUROBIOLOGY OF AGING
- Estimating the Age of the Most Common Italian GRN Mutation: Walking Back to Canossa Times
- (2018) Luisa Benussi et al. JOURNAL OF ALZHEIMERS DISEASE
- C9ORF72 Hexanucleotide Repeat Number in Frontotemporal Lobar Degeneration: A Genotype-Phenotype Correlation Study
- (2018) Luisa Benussi et al. JOURNAL OF ALZHEIMERS DISEASE
- The Whole Exome Sequencing Clarifies the Genotype- Phenotype Correlations in Patients with Early-Onset Dementia
- (2018) Yangqi Xu et al. Aging and Disease
- The Heritability of Frontotemporal Lobar Degeneration: Validation of Pedigree Classification Criteria in a Northern Italy Cohort
- (2017) Silvia Fostinelli et al. JOURNAL OF ALZHEIMERS DISEASE
- Molecular genetics of early-onset Alzheimer's disease revisited
- (2016) Rita Cacace et al. Alzheimers & Dementia
- TREMs in Alzheimer's disease: Genetic and clinical investigations
- (2016) Jia Cheng et al. CLINICA CHIMICA ACTA
- Gain-of-function somatic mutations contribute to inflammation and blood vessel damage that lead to Alzheimer dementia: a hypothesis
- (2016) Vincent T. Marchesi FASEB JOURNAL
- Genetics of Frontotemporal Lobar Degeneration: From the Bench to the Clinic
- (2016) Shan-Shan Tang et al. JOURNAL OF ALZHEIMERS DISEASE
- TREM2 variants: new keys to decipher Alzheimer disease pathogenesis
- (2016) Marco Colonna et al. NATURE REVIEWS NEUROSCIENCE
- Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease identified by targeted exome sequencing
- (2016) Elena Piccoli et al. NEUROBIOLOGY OF AGING
- Screening of Early and Late Onset Alzheimer’s Disease Genetic Risk Factors in a Cohort of Dementia Patients from Liguria, Italy
- (2015) Raffaele Ferrari et al. Current Alzheimer Research
- Apolipoprotein E Is a Ligand for Triggering Receptor Expressed on Myeloid Cells 2 (TREM2)
- (2015) Yuka Atagi et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- The Triggering Receptor Expressed on Myeloid Cells 2 Binds Apolipoprotein E
- (2015) Charles C. Bailey et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- TREM2 is associated with increased risk for Alzheimer’s disease in African Americans
- (2015) Sheng Chih Jin et al. Molecular Neurodegeneration
- More evidence for association of a rare TREM2 mutation (R47H) with Alzheimer's disease risk
- (2015) Samantha L. Rosenthal et al. NEUROBIOLOGY OF AGING
- Genetics and Underlying Pathology of Dementia
- (2015) Beata Ferencz et al. NEUROPSYCHOLOGY REVIEW
- TREM2 R47H variant and risk of essential tremor: A cross-sectional international multicenter study
- (2015) Sara Ortega-Cubero et al. PARKINSONISM & RELATED DISORDERS
- The human gene damage index as a gene-level approach to prioritizing exome variants
- (2015) Yuval Itan et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- R47H Variant ofTREM2Associated With Alzheimer Disease in a Large Late-Onset Family
- (2015) Olena Korvatska et al. JAMA Neurology
- Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies
- (2014) Jose Bras et al. HUMAN MOLECULAR GENETICS
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Homozygous TREM2 mutation in a family with atypical frontotemporal dementia
- (2014) Isabelle Le Ber et al. NEUROBIOLOGY OF AGING
- TREM2Variant p.R47H as a Risk Factor for Sporadic Amyotrophic Lateral Sclerosis
- (2014) Janet Cady et al. JAMA Neurology
- The genetics of Alzheimer's disease
- (2014) Eva Bagyinszky et al. Clinical Interventions in Aging
- The association between the methionine/valine (M/V) polymorphism (rs1799990) in the PRNP gene and the risk of Alzheimer disease: An update by meta-analysis
- (2013) Jie He et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Genetics of dementia
- (2013) Clement T Loy et al. LANCET
- TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson’s disease
- (2013) Sruti Rayaprolu et al. Molecular Neurodegeneration
- APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study
- (2013) V K Ramanan et al. MOLECULAR PSYCHIATRY
- Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's disease
- (2013) Margarita Giraldo et al. NEUROBIOLOGY OF AGING
- TREM2 is associated with the risk of Alzheimer's disease in Spanish population
- (2013) Bruno A. Benitez et al. NEUROBIOLOGY OF AGING
- Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia
- (2013) Elise Cuyvers et al. NEUROBIOLOGY OF AGING
- Validation of next-generation sequencing technologies in genetic diagnosis of dementia
- (2013) John Beck et al. NEUROBIOLOGY OF AGING
- Single Nucleotide Polymorphisms in MicroRNA Binding Sites of Oncogenes: Implications in Cancer and Pharmacogenomics
- (2013) Mayakannan Manikandan et al. OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY
- A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases
- (2013) Jane S. Paulsen et al. PROGRESS IN NEUROBIOLOGY
- Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia–like Syndrome Without Bone Involvement
- (2013) Rita João Guerreiro et al. JAMA Neurology
- Development and Validation of Pedigree Classification Criteria for Frontotemporal Lobar Degeneration
- (2013) Elisabeth M. Wood et al. JAMA Neurology
- Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models
- (2012) Hashem A. Shihab et al. HUMAN MUTATION
- 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
- Characterization of the Asian myopathy patients with VCP mutations
- (2011) Z. Shi et al. EUROPEAN JOURNAL OF NEUROLOGY
- Optimal Plasma Progranulin Cutoff Value for Predicting Null Progranulin Mutations in Neurodegenerative Diseases: A Multicenter Italian Study
- (2011) Roberta Ghidoni et al. Neurodegenerative Diseases
- 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
- Progranulin Mutations are a Common Cause of FTLD in Northern Italy
- (2010) Luisa Benussi et al. ALZHEIMER DISEASE & ASSOCIATED DISORDERS
- Association of α-, β-, and γ-Synuclein With Diffuse Lewy Body Disease
- (2010) Kenya Nishioka et al. ARCHIVES OF NEUROLOGY
- BEDTools: a flexible suite of utilities for comparing genomic features
- (2010) Aaron R. Quinlan et al. BIOINFORMATICS
- Impact of early onset dementia on caregivers: a review
- (2010) Deliane van Vliet et al. INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
- Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++
- (2010) Eugene V. Davydov et al. PLoS Computational Biology
- Serum biomarker for progranulin-associated frontotemporal lobar degeneration
- (2009) Kristel Sleegers et al. ANNALS OF NEUROLOGY
- Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members
- (2009) N. Finch et al. BRAIN
- Inclusion body myopathy, Paget’s disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling
- (2009) V Viassolo et al. CLINICAL GENETICS
- Identification of deleterious mutations within three human genomes
- (2009) S. Chun et al. GENOME RESEARCH
- Detection of nonneutral substitution rates on mammalian phylogenies
- (2009) K. S. Pollard et al. GENOME RESEARCH
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL
- (2009) C. Ungaro et al. NEUROLOGICAL SCIENCES
- Genome-wide Association Analysis Reveals Putative Alzheimer's Disease Susceptibility Loci in Addition to APOE
- (2008) Lars Bertram et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide
- (2008) Luisa Benussi et al. NEUROBIOLOGY OF DISEASE
- Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration
- (2008) R. Ghidoni et al. NEUROLOGY
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