Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies
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Title
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies
Authors
Keywords
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Journal
Acta Neuropathologica Communications
Volume 8, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2020-01-30
DOI
10.1186/s40478-020-0879-z
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Note: Only part of the references are listed.- Dementia with Lewy bodies presenting as frontotemporal dementia phenotype
- (2019) Yasuhiro Nagahama et al. Psychogeriatrics
- Coexisting Lewy body disease and clinical parkinsonism in frontotemporal lobar degeneration
- (2019) Shelley L. Forrest et al. NEUROLOGY
- Chronic traumatic encephalopathy is a common co-morbidity, but less frequent primary dementia in former soccer and rugby players
- (2019) Edward B. Lee et al. ACTA NEUROPATHOLOGICA
- Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study
- (2018) Rita Guerreiro et al. LANCET NEUROLOGY
- Genotype–phenotype links in frontotemporal lobar degeneration
- (2018) Sara Van Mossevelde et al. Nature Reviews Neurology
- Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease
- (2018) Cornelis Blauwendraat et al. NEUROBIOLOGY OF AGING
- GRN Thr272fs Clinical Heterogeneity: A Case with Atypical Late Onset Presenting with a Dementia with Lewy Bodies Phenotype
- (2018) Beatrice Arosio et al. JOURNAL OF ALZHEIMERS DISEASE
- Using high-resolution variant frequencies to empower clinical genome interpretation
- (2017) Nicola Whiffin et al. GENETICS IN MEDICINE
- Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
- (2017) Rebecca Sims et al. NATURE GENETICS
- TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics
- (2017) Ian R. Mackenzie et al. NEURON
- Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease
- (2017) Maria Victoria Fernández et al. PLoS Genetics
- TDP-43 pathology in Alzheimer's disease, dementia with Lewy bodies and ageing
- (2016) Kirsty E. McAleese et al. BRAIN PATHOLOGY
- Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource
- (2016) Michael J. Keogh et al. GENOME RESEARCH
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- TBK1 is associated with ALS and ALS-FTD in Sardinian patients
- (2016) Giuseppe Borghero et al. NEUROBIOLOGY OF AGING
- Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases
- (2016) Rita Guerreiro et al. NEUROBIOLOGY OF AGING
- Exome sequencing in dementia with Lewy bodies
- (2016) M J Keogh et al. Translational Psychiatry
- Mitochondrial targeting sequence variants of theCHCHD2gene are a risk for Lewy body disorders
- (2015) Kotaro Ogaki et al. NEUROLOGY
- ClinVar: public archive of interpretations of clinically relevant variants
- (2015) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia
- (2015) Alberto Benussi et al. Frontiers in Aging Neuroscience
- 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
- dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations
- (2013) Xiaoming Liu et al. HUMAN MUTATION
- Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing
- (2013) Kevin P Kenna et al. JOURNAL OF MEDICAL GENETICS
- Confluence of α-Synuclein, Tau, and β-Amyloid Pathologies in Dementia With Lewy Bodies
- (2013) Martí Colom-Cadena et al. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
- A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies
- (2013) Michael A. Nalls et al. JAMA Neurology
- A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
- (2012) Pablo Cingolani et al. FLY
- Locus-specific mutation databases for neurodegenerative brain diseases
- (2012) Marc Cruts et al. HUMAN MUTATION
- Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
- (2012) S. Testi et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline
- (2012) Thorlakur Jonsson et al. NATURE
- Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families
- (2012) Carlos Cruchaga et al. PLoS One
- APOE ϵ4 Increases Risk for Dementia in Pure Synucleinopathies
- (2012) Debby Tsuang et al. JAMA Neurology
- Prion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutation
- (2011) Jon Beck et al. BRAIN
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- DLB and PDD: a role for mutations in dementia and Parkinson disease genes?
- (2011) Bram Meeus et al. NEUROBIOLOGY OF AGING
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Data quality control in genetic case-control association studies
- (2010) Carl A Anderson et al. Nature Protocols
- Clinical Spectrum of CADASIL and the Effect of Cardiovascular Risk Factors on Phenotype
- (2010) Poneh Adib-Samii et al. STROKE
- Phosphorylated TDP-43 in Alzheimer’s disease and dementia with Lewy bodies
- (2009) Tetsuaki Arai et al. ACTA NEUROPATHOLOGICA
- Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients
- (2009) Saara Tikka et al. BRAIN
- Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms
- (2009) M. K. Liem et al. JOURNAL OF NEUROLOGY
- A Recessive Mutation in the APP Gene with Dominant-Negative Effect on Amyloidogenesis
- (2009) G. Di Fede et al. SCIENCE
- The Human Gene Mutation Database: 2008 update
- (2009) Peter D Stenson et al. Genome Medicine
- Association Between Progranulin and β-Amyloid in Dementia With Lewy Bodies
- (2008) Gonzalo J. Revuelta et al. American Journal of Alzheimers Disease and Other Dementias
- Patients Homozygous and Heterozygous for SNCA Duplication in a Family With Parkinsonism and Dementia
- (2008) Takeshi Ikeuchi et al. ARCHIVES OF NEUROLOGY
- Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study
- (2008) Isabelle Le Ber et al. BRAIN
- Frontotemporal Dementia Mimicking Dementia With Lewy Bodies
- (2008) Daniel O. Claassen et al. Cognitive and Behavioral Neurology
- Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia
- (2008) John C van Swieten et al. LANCET NEUROLOGY
- McKusick's Online Mendelian Inheritance in Man (OMIM(R))
- (2008) J. Amberger et al. NUCLEIC ACIDS RESEARCH
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