Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing
Published 2019 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing
Authors
Keywords
-
Journal
Acta Neuropathologica Communications
Volume 7, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2019-12-24
DOI
10.1186/s40478-019-0873-5
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Characterizing the Major Structural Variant Alleles of the Human Genome
- (2019) Peter A. Audano et al. CELL
- Neurons with Complex Karyotypes Are Rare in Aged Human Neocortex
- (2019) William D. Chronister et al. Cell Reports
- Protocol Update for large-scale genome and gene function analysis with the PANTHER classification system (v.14.0)
- (2019) Huaiyu Mi et al. Nature Protocols
- Wide distribution of alpha-synuclein oligomers in multiple system atrophy brain detected by proximity ligation
- (2019) Hiroaki Sekiya et al. ACTA NEUROPATHOLOGICA
- Selective vulnerability in α-synucleinopathies
- (2019) Javier Alegre-Abarrategui et al. ACTA NEUROPATHOLOGICA
- Endogenous oligodendroglial alpha-synuclein and TPPP/p25α orchestrate alpha-synuclein pathology in experimental multiple system atrophy models
- (2019) Panagiota Mavroeidi et al. ACTA NEUROPATHOLOGICA
- Temporal evolution of microglia and α-synuclein accumulation following foetal grafting in Parkinson’s disease
- (2019) C Warren Olanow et al. BRAIN
- Early neuronal accumulation of DNA double strand breaks in Alzheimer’s disease
- (2019) Niraj M. Shanbhag et al. Acta Neuropathologica Communications
- Improving diagnostic accuracy of multiple system atrophy: a clinicopathological study
- (2019) Yasuo Miki et al. BRAIN
- Spread of α-synuclein pathology through the brain connectome is modulated by selective vulnerability and predicted by network analysis
- (2019) Michael X. Henderson et al. NATURE NEUROSCIENCE
- Understanding the pathogenesis of multiple system atrophy: state of the art and future perspectives
- (2019) Giacomo Monzio Compagnoni et al. Acta Neuropathologica Communications
- Cross-examining candidate genes implicated in multiple system atrophy
- (2019) Jared S. Katzeff et al. Acta Neuropathologica Communications
- Precise detection of low-level somatic mutation in resected epilepsy brain tissue
- (2019) Nam Suk Sim et al. ACTA NEUROPATHOLOGICA
- The genetic architecture of Parkinson's disease
- (2019) Cornelis Blauwendraat et al. LANCET NEUROLOGY
- Multiple System Atrophy: Recent Developments and Future Perspectives
- (2019) Wassilios G. Meissner et al. MOVEMENT DISORDERS
- Clinical variability in Chinese families with Parkinson disease and SNCA duplication, including the shortest 139kb duplication
- (2019) Yu-Jie Du et al. PARKINSONISM & RELATED DISORDERS
- Somatic mutations in neurons during aging and neurodegeneration
- (2018) Bert M. Verheijen et al. ACTA NEUROPATHOLOGICA
- AnnotSV: an integrated tool for structural variations annotation
- (2018) Véronique Geoffroy et al. BIOINFORMATICS
- Somatic copy number gains of α-synuclein (SNCA) in Parkinson’s disease and multiple system atrophy brains
- (2018) Katya Mokretar et al. BRAIN
- Lysosomal storage disorder gene variants in multiple system atrophy
- (2018) Lasse Pihlstrøm et al. BRAIN
- Multiclonal Invasion in Breast Tumors Identified by Topographic Single Cell Sequencing
- (2018) Anna K. Casasent et al. CELL
- Genomic mosaicism in the developing and adult brain
- (2018) Suzanne Rohrback et al. Developmental Neurobiology
- Multiple System Atrophy: An Oligodendroglioneural Synucleinopathy1
- (2018) Kurt A. Jellinger JOURNAL OF ALZHEIMERS DISEASE
- Is Braak staging valid for all types of Parkinson’s disease?
- (2018) Kurt A. Jellinger JOURNAL OF NEURAL TRANSMISSION
- Multiscale Analysis of Independent Alzheimer’s Cohorts Finds Disruption of Molecular, Genetic, and Clinical Networks by Human Herpesvirus
- (2018) Ben Readhead et al. NEURON
- Review: Somatic mutations in neurodegeneration
- (2018) M. Leija-Salazar et al. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
- Pathological Endogenous α-Synuclein Accumulation in Oligodendrocyte Precursor Cells Potentially Induces Inclusions in Multiple System Atrophy
- (2018) Seiji Kaji et al. Stem Cell Reports
- Submegabase copy number variations arise during cerebral cortical neurogenesis as revealed by single-cell whole-genome sequencing
- (2018) Suzanne Rohrback et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Activation of the DNA damage response in vivo in synucleinopathy models of Parkinson’s disease
- (2018) Chiara Milanese et al. Cell Death & Disease
- The role of de novo mutations in adult-onset neurodegenerative disorders
- (2018) Gaël Nicolas et al. ACTA NEUROPATHOLOGICA
- LRP10 in α-synucleinopathies
- (2018) Lasse Pihlstrøm et al. LANCET NEUROLOGY
- Somatic APP gene recombination in Alzheimer’s disease and normal neurons
- (2018) Ming-Hsiang Lee et al. NATURE
- Somatic mosaicism and neurodevelopmental disease
- (2018) Alissa M. D’Gama et al. NATURE NEUROSCIENCE
- Rbfox1 Mediates Cell-type-Specific Splicing in Cortical Interneurons
- (2018) Brie Wamsley et al. NEURON
- The Search for Environmental Causes of Parkinson’s Disease: Moving Forward
- (2018) Honglei Chen et al. Journal of Parkinsons Disease
- Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization
- (2018) Lusine Nazaryan-Petersen et al. PLoS Genetics
- Species and cell-type properties of classically defined human and rodent neurons and glia
- (2018) Xiao Xu et al. eLife
- A Meta-Analysis of α-Synuclein Multiplication in Familial Parkinsonism
- (2018) Adam Book et al. Frontiers in Neurology
- Changes in the cell population in brain white matter in multiple system atrophy
- (2017) Charlotte Havelund Nykjaer et al. MOVEMENT DISORDERS
- Selective neuronal vulnerability in Parkinson disease
- (2017) D. James Surmeier et al. NATURE REVIEWS NEUROSCIENCE
- NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases
- (2017) Cornelis Blauwendraat et al. NEUROBIOLOGY OF AGING
- Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis
- (2017) Taejeong Bae et al. SCIENCE
- Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network
- (2017) Michael J. McConnell et al. SCIENCE
- Performance of four modern whole genome amplification methods for copy number variant detection in single cells
- (2017) Lieselot Deleye et al. Scientific Reports
- DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation
- (2017) Elizabeth Nacheva et al. PLoS One
- Extensive Hidden Genomic Mosaicism Revealed in Normal Tissue
- (2016) Selina Vattathil et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Rapid and powerful detection of subtle allelic imbalance from exome sequencing data withhapLOHseq
- (2016) F. Anthony San Lucas et al. BIOINFORMATICS
- Long Neural Genes Harbor Recurrent DNA Break Clusters in Neural Stem/Progenitor Cells
- (2016) Pei-Chi Wei et al. CELL
- Molecular Diversity of Midbrain Development in Mouse, Human, and Stem Cells
- (2016) Gioele La Manno et al. CELL
- Assessment of megabase-scale somatic copy number variation using single-cell sequencing
- (2016) Kristin A. Knouse et al. GENOME RESEARCH
- A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains
- (2016) Heleen Masset et al. HUMAN MUTATION
- Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance
- (2016) Dena G. Hernandez et al. JOURNAL OF NEUROCHEMISTRY
- Increased aneuploidy is not a universal feature across α-synucleinopathies
- (2016) Yue Yang et al. MOVEMENT DISORDERS
- Parallel single-cell sequencing links transcriptional and epigenetic heterogeneity
- (2016) Christof Angermueller et al. NATURE METHODS
- Single-cell genome sequencing: current state of the science
- (2016) Charles Gawad et al. NATURE REVIEWS GENETICS
- The Cellular and Molecular Landscapes of the Developing Human Central Nervous System
- (2016) John C. Silbereis et al. NEURON
- Autosomal dominant Parkinson's disease caused by SNCA duplications
- (2016) Takuya Konno et al. PARKINSONISM & RELATED DISORDERS
- Genome-wide estimate of the heritability of Multiple System Atrophy
- (2016) M. Federoff et al. PARKINSONISM & RELATED DISORDERS
- Direct visualization of alpha-synuclein oligomers reveals previously undetected pathology in Parkinson’s disease brain
- (2015) Rosalind F. Roberts et al. BRAIN
- Expanding the spectrum of neuronal pathology in multiple system atrophy
- (2015) Matthew D. Cykowski et al. BRAIN
- Interactive analysis and assessment of single-cell copy-number variations
- (2015) Tyler Garvin et al. NATURE METHODS
- G&T-seq: parallel sequencing of single-cell genomes and transcriptomes
- (2015) Iain C Macaulay et al. NATURE METHODS
- Quantitative assessment of single-cell whole genome amplification methods for detecting copy number variation using hippocampal neurons
- (2015) Luwen Ning et al. Scientific Reports
- mixtools: AnRPackage for Analyzing Finite Mixture Models
- (2015) Tatiana Benaglia et al. Journal of Statistical Software
- BIMA V3: an aligner customized for mate pair library sequencing
- (2014) Travis M. Drucker et al. BIOINFORMATICS
- Trimmomatic: a flexible trimmer for Illumina sequence data
- (2014) Anthony M. Bolger et al. BIOINFORMATICS
- DNA Damage and Its Links to Neurodegeneration
- (2014) Ram Madabhushi et al. NEURON
- Single cell sequencing reveals low levels of aneuploidy across mammalian tissues
- (2014) Kristin A. Knouse et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain
- (2014) Xuyu Cai et al. Cell Reports
- Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements
- (2014) Sebastiaan van Heesch et al. Cell Reports
- Single cell segmental aneuploidy detection is compromised by S phase
- (2014) Eftychia Dimitriadou et al. Molecular Cytogenetics
- A 6.4 Mb Duplication of the α-Synuclein Locus Causing Frontotemporal Dementia and Parkinsonism
- (2014) Eleanna Kara et al. JAMA Neurology
- α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson’s disease and multiple system atrophy?
- (2013) Aoife P. Kiely et al. ACTA NEUROPATHOLOGICA
- Alpha-synuclein transfers from neurons to oligodendrocytes
- (2013) Juan F. Reyes et al. GLIA
- Somatic alpha-synuclein mutations in Parkinson's disease: Hypothesis and preliminary data
- (2013) Christos Proukakis et al. MOVEMENT DISORDERS
- Massively parallel polymerase cloning and genome sequencing of single cells using nanoliter microwells
- (2013) Jeff Gole et al. NATURE BIOTECHNOLOGY
- Screening of Toll-Like Receptors Expression in Multiple System Atrophy Brains
- (2013) Tomasz Brudek et al. NEUROCHEMICAL RESEARCH
- Mosaic Copy Number Variation in Human Neurons
- (2013) M. J. McConnell et al. SCIENCE
- Parkinson's Disease and Parkinsonism: Neuropathology
- (2013) D. W. Dickson Cold Spring Harbor Perspectives in Medicine
- Identification and Quantification of Oligodendrocyte Precursor Cells in Multiple System Atrophy, Progressive Supranuclear Palsy and Parkinson's Disease
- (2012) Zeshan Ahmed et al. BRAIN PATHOLOGY
- A genome-wide analysis of common fragile sites: What features determine chromosomal instability in the human genome?
- (2012) Arkarachai Fungtammasan et al. GENOME RESEARCH
- Fast gapped-read alignment with Bowtie 2
- (2012) Ben Langmead et al. NATURE METHODS
- Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†
- (2011) Wigard P. Kloosterman et al. HUMAN MOLECULAR GENETICS
- PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity
- (2011) David Ramonet et al. HUMAN MOLECULAR GENETICS
- REVIGO Summarizes and Visualizes Long Lists of Gene Ontology Terms
- (2011) Fran Supek et al. PLoS One
- Mechanisms of Genomic Instabilities Underlying Two Common Fragile-Site-Associated Loci, PARK2 and DMD, in Germ Cell and Cancer Cell Lines
- (2010) Jun Mitsui et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Neuronal DNA content variation (DCV) with regional and individual differences in the human brain
- (2010) Jurjen W. Westra et al. JOURNAL OF COMPARATIVE NEUROLOGY
- Characterization of Lewy body pathology in 12- and 16-year-old intrastriatal mesencephalic grafts surviving in a patient with Parkinson's disease
- (2010) Jia-Yi Li et al. MOVEMENT DISORDERS
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Lewy body pathology in fetal grafts
- (2009) Yaping Chu et al. Annals of the New York Academy of Sciences
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Origins and functional impact of copy number variation in the human genome
- (2009) Donald F. Conrad et al. NATURE
- NeuN is not a reliable marker of dopamine neurons in rat substantia nigra
- (2009) Jason R. Cannon et al. NEUROSCIENCE LETTERS
- Dopamine neurons implanted into people with Parkinson's disease survive without pathology for 14 years
- (2008) Ivar Mendez et al. NATURE MEDICINE
- Lewy bodies in grafted neurons in subjects with Parkinson's disease suggest host-to-graft disease propagation
- (2008) Jia-Yi Li et al. NATURE MEDICINE
- Lewy body–like pathology in long-term embryonic nigral transplants in Parkinson's disease
- (2008) Jeffrey H Kordower et al. NATURE MEDICINE
- CLINICOPATHOLOGIC STUDY OF A SNCA GENE DUPLICATION PATIENT WITH PARKINSON DISEASE AND DEMENTIA
- (2008) T. Obi et al. NEUROLOGY
- DNA instability in postmitotic neurons
- (2008) R. Gonitel et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started