Copy number variability in Parkinson’s disease: assembling the puzzle through a systems biology approach
出版年份 2016 全文链接
标题
Copy number variability in Parkinson’s disease: assembling the puzzle through a systems biology approach
作者
关键词
Copy Number Change, Rare CNVs, Copy Number Variability
出版物
HUMAN GENETICS
Volume 136, Issue 1, Pages 13-37
出版商
Springer Nature
发表日期
2016-11-28
DOI
10.1007/s00439-016-1749-4
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。- Direct Downregulation of CNTNAP2 by STOX1A is Associated with Alzheimer's Disease
- (2018) Daan van Abel et al. JOURNAL OF ALZHEIMERS DISEASE
- Looking beyond the genes: the role of non-coding variants in human disease
- (2016) Malte Spielmann et al. HUMAN MOLECULAR GENETICS
- Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data
- (2016) Kin Y Mok et al. LANCET NEUROLOGY
- Parkinson-associated risk variant in distal enhancer of α-synuclein modulates target gene expression
- (2016) Frank Soldner et al. NATURE
- Formation of new chromatin domains determines pathogenicity of genomic duplications
- (2016) Martin Franke et al. NATURE
- Understanding Dopaminergic Cell Death Pathways in Parkinson Disease
- (2016) Patrick P. Michel et al. NEURON
- Autosomal dominant Parkinson's disease caused by SNCA duplications
- (2016) Takuya Konno et al. PARKINSONISM & RELATED DISORDERS
- Breaking TADs: How Alterations of Chromatin Domains Result in Disease
- (2016) Darío G. Lupiáñez et al. TRENDS IN GENETICS
- The impact of human copy number variation on gene expression: Figure 1
- (2015) Eric R. Gamazon et al. Briefings in Functional Genomics
- Catechol-O-Methyltransferase Inhibitors in Parkinson’s Disease
- (2015) Thomas Müller DRUGS
- Heterozygote carriers for CNVs inPARK2are at increased risk of Parkinson's disease
- (2015) Johanna Huttenlocher et al. HUMAN MOLECULAR GENETICS
- Genetic Variants in MicroRNAs and Their Binding Sites Are Associated with the Risk of Parkinson Disease
- (2015) Mohsen Ghanbari et al. HUMAN MUTATION
- Genomic instability in the PARK2 locus is associated with Parkinson’s disease
- (2015) Wojciech Ambroziak et al. JOURNAL OF APPLIED GENETICS
- Association of progranulin polymorphism rs5848 with neurodegenerative diseases: a meta-analysis
- (2015) Yongdui Chen et al. JOURNAL OF NEUROLOGY
- IGF-1R Reduction Triggers Neuroprotective Signaling Pathways in Spinal Muscular Atrophy Mice
- (2015) O. Biondi et al. JOURNAL OF NEUROSCIENCE
- Synaptic dysfunction and septin protein family members in neurodegenerative diseases
- (2015) Mikael Marttinen et al. Molecular Neurodegeneration
- 22q11.2 deletion syndrome presenting with early-onset Parkinson's disease
- (2015) Aliya F. Rehman et al. MOVEMENT DISORDERS
- A copy number variation map of the human genome
- (2015) Mehdi Zarrei et al. NATURE REVIEWS GENETICS
- Identification of candidate genes for Parkinson's disease through blood transcriptome analysis in LRRK2-G2019S carriers, idiopathic cases, and controls
- (2015) Jon Infante et al. NEUROBIOLOGY OF AGING
- Exon dosage analysis of parkin gene in Chinese sporadic Parkinson’s disease
- (2015) Ji-Feng Guo et al. NEUROSCIENCE LETTERS
- Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family
- (2015) Simone Olgiati et al. PARKINSONISM & RELATED DISORDERS
- Parkinson’s Disease in Saudi Patients: A Genetic Study
- (2015) Bashayer R. Al-Mubarak et al. PLoS One
- Copy Number Variations in a Population-Based Study of Charcot-Marie-Tooth Disease
- (2015) Helle Høyer et al. Biomed Research International
- Four Copies of SNCA Responsible for Autosomal Dominant Parkinson’s Disease in Two Italian Siblings
- (2015) Rosangela Ferese et al. Parkinsons Disease
- Neuroinflammation in Parkinson’s disease and its potential as therapeutic target
- (2015) Qinqin Wang et al. Translational Neurodegeneration
- Copy number variation plays an important role in clinical epilepsy
- (2014) Heather Olson et al. ANNALS OF NEUROLOGY
- PACAP27 prevents Parkinson-like neuronal loss and motor deficits but not microglia activation induced by prostaglandin J2
- (2014) Kai-Yvonne Shivers et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Neuroprotective roles of pituitary adenylate cyclase-activating polypeptide in neurodegenerative diseases
- (2014) Eun Hye Lee et al. BMB Reports
- Increasing the Coding Potential of Genomes Through Alternative Splicing: The Case of PARK2 Gene
- (2014) Valentina La Cognata et al. CURRENT GENOMICS
- c-Abl phosphorylates α-synuclein and regulates its degradation: implication for α-synuclein clearance and contribution to the pathogenesis of Parkinson's disease
- (2014) Anne-Laure Mahul-Mellier et al. HUMAN MOLECULAR GENETICS
- Analysis of Dosage Mutation inPARK2among Korean Patients with Early-Onset or Familial Parkinson's Disease
- (2014) Min Kyung Chu et al. Journal of Clinical Neurology
- Identification of Candidate Single-Nucleotide Polymorphisms in NRXN1 Related to Antipsychotic Treatment Response in Patients with Schizophrenia
- (2014) Aaron Jenkins et al. NEUROPSYCHOPHARMACOLOGY
- PACAP Protects Against Inflammatory-Mediated Toxicity in Dopaminergic SH-SY5Y Cells: Implication for Parkinson’s Disease
- (2014) Dwayne Brown et al. NEUROTOXICITY RESEARCH
- Chromosome 22q11.2 deletion may contain a locus for recessive early-onset Parkinson's disease
- (2014) Kotaro Ogaki et al. PARKINSONISM & RELATED DISORDERS
- Progranulin Gene Delivery Protects Dopaminergic Neurons in a Mouse Model of Parkinson’s Disease
- (2014) Jackalina M. Van Kampen et al. PLoS One
- Alternative Splicing Generates Different Parkin Protein Isoforms: Evidences in Human, Rat, and Mouse Brain
- (2014) Soraya Scuderi et al. Biomed Research International
- A 6.4 Mb Duplication of the α-Synuclein Locus Causing Frontotemporal Dementia and Parkinsonism
- (2014) Eleanna Kara et al. JAMA Neurology
- Structural variations, the regulatory landscape of the genome and their alteration in human disease
- (2013) Malte Spielmann et al. BIOESSAYS
- Pathogenic or not? Assessing the clinical relevance of copy number variants
- (2013) JY Hehir-Kwa et al. CLINICAL GENETICS
- Cholinergic Dysfunction in Parkinson’s Disease
- (2013) Martijn L. T. M. Müller et al. Current Neurology and Neuroscience Reports
- High-Resolution Survey in Familial Parkinson Disease Genes Reveals Multiple Independent Copy Number Variation Events in PARK2
- (2013) Liyong Wang et al. HUMAN MUTATION
- PACAP Protects Against Salsolinol-Induced Toxicity in Dopaminergic SH-SY5Y Cells: Implication for Parkinson’s Disease
- (2013) Dwayne Brown et al. JOURNAL OF MOLECULAR NEUROSCIENCE
- Recent advances in Parkinson’s disease genetics
- (2013) Steven Lubbe et al. JOURNAL OF NEUROLOGY
- Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family
- (2013) Maja Kojovic et al. MOVEMENT DISORDERS
- Alpha-synuclein gene duplication: Marked intrafamilial variability in two novel pedigrees
- (2013) Antonio E. Elia et al. MOVEMENT DISORDERS
- Advances in the genetics of Parkinson disease
- (2013) Joanne Trinh et al. Nature Reviews Neurology
- A role for the neurexin–neuroligin complex in Alzheimer's disease
- (2013) Ikhlas A. Sindi et al. NEUROBIOLOGY OF AGING
- Detection of copy number changes in genes associated with Parkinson's disease in Iranian patients
- (2013) Hossein Darvish et al. NEUROSCIENCE LETTERS
- The Database of Genomic Variants: a curated collection of structural variation in the human genome
- (2013) Jeffrey R. MacDonald et al. NUCLEIC ACIDS RESEARCH
- Neuroprotective Function of DJ-1 in Parkinson’s Disease
- (2013) Hiroyoshi Ariga et al. Oxidative Medicine and Cellular Longevity
- Genetics of Parkinson's disease – state of the art, 2013
- (2013) Vincenzo Bonifati PARKINSONISM & RELATED DISORDERS
- Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism
- (2013) C. Perandones et al. PARKINSONISM & RELATED DISORDERS
- The BCL2 code to dopaminergic development and Parkinson's disease
- (2013) Lars P. van der Heide et al. TRENDS IN MOLECULAR MEDICINE
- -Synuclein in Parkinson's Disease
- (2013) L. Stefanis Cold Spring Harbor Perspectives in Medicine
- Genetics of Parkinson's Disease
- (2013) C. Klein et al. Cold Spring Harbor Perspectives in Medicine
- Association Between Early-Onset Parkinson Disease and 22q11.2 Deletion Syndrome
- (2013) Nancy J. Butcher et al. JAMA Neurology
- ATP13A2 (PARK9) protein levels are reduced in brain tissue of cases with Lewy bodies
- (2013) Karen E Murphy et al. Acta Neuropathologica Communications
- Increased rate of sporadic and recurrent rare genic copy number variants in Parkinson's disease among Ashkenazi Jews
- (2013) Xinmin Liu et al. Molecular Genetics & Genomic Medicine
- Partial Trisomy 4q Associated With Young-Onset Dopa-Responsive Parkinsonism
- (2012) Gaëtan Garraux ARCHIVES OF NEUROLOGY
- Tyrosine Hydroxylase Gene: Another Piece of the Genetic Puzzle of Parkinson’s Disease
- (2012) Guney Bademci et al. CNS & Neurological Disorders-Drug Targets
- Molecular methods for genotyping complex copy number polymorphisms
- (2012) Stuart Cantsilieris et al. GENOMICS
- High frequency of Parkin exon rearrangements in Mexican-mestizo patients with early-onset Parkinson's disease
- (2012) Jorge Luis Guerrero Camacho et al. MOVEMENT DISORDERS
- Analysis of LRRK2, SNCA, Parkin, PINK1, and DJ-1 in Zambian patients with Parkinson's disease
- (2012) Ekaterina Yonova-Doing et al. PARKINSONISM & RELATED DISORDERS
- Copy number variations in neurodevelopmental disorders
- (2012) Hannah M. Grayton et al. PROGRESS IN NEUROBIOLOGY
- Evidence for involvement of GNB1L in autism
- (2011) Ying-Zhang Chen et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- Genome-Wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population
- (2011) Xinmin Liu et al. BMC Medical Genetics
- Gene expression in the Parkinson's disease brain
- (2011) Patrick A. Lewis et al. BRAIN RESEARCH BULLETIN
- Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease
- (2011) S Y Kim et al. CLINICAL GENETICS
- Molecular Mechanisms of PINK1-Related Neurodegeneration
- (2011) Joe H. Pogson et al. Current Neurology and Neuroscience Reports
- Review on the Protective Effects of PACAP in Models of Neurodegenerative Diseases In Vitro and In Vivo
- (2011) D. Reglodi et al. CURRENT PHARMACEUTICAL DESIGN
- Tbx1: identification of a 22q11.2 gene as a risk factor for autism spectrum disorder in a mouse model
- (2011) Takeshi Hiramoto et al. HUMAN MOLECULAR GENETICS
- SNCA locus duplication carriers: from genetics to Parkinson disease phenotypes
- (2011) Eugénie Mutez et al. HUMAN MUTATION
- Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations
- (2011) Peter Elfferich et al. NEUROGENETICS
- An approach to finding brain-situated mutations in sporadic Parkinson's disease
- (2011) Roger Pamphlett et al. PARKINSONISM & RELATED DISORDERS
- Autosomal recessive parkinsonism
- (2011) Vincenzo Bonifati PARKINSONISM & RELATED DISORDERS
- Copy Number Variation in Familial Parkinson Disease
- (2011) Nathan Pankratz et al. PLoS One
- Co-occurrence of early-onset Parkinson disease and 22q11.2 deletion syndrome: Potential role for dopamine transporter imaging
- (2010) Jan Booij et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The cholinergic system and Parkinson disease
- (2010) Nicolaas I. Bohnen et al. BEHAVIOURAL BRAIN RESEARCH
- PINK1-linked parkinsonism is associated with Lewy body pathology
- (2010) Lluís Samaranch et al. BRAIN
- Parkin dosage mutations in patients with early-onset sporadic and familial Parkinson's disease in Chinese: An independent pathogenic role
- (2010) Chaodong Wang et al. BRAIN RESEARCH
- Countering neurodegeneration by reducing the activity of the insulin/IGF signaling pathway: Current knowledge and future prospects
- (2010) Ehud Cohen EXPERIMENTAL GERONTOLOGY
- A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease
- (2010) Güney Bademci et al. HUMAN MUTATION
- Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism
- (2010) Ji-feng Guo et al. JOURNAL OF NEUROLOGY
- Interaction of dopamine D1 receptor with N-ethylmaleimide-sensitive factor is important for the membrane localization of the receptor
- (2010) Sheng Chen et al. JOURNAL OF NEUROSCIENCE RESEARCH
- Two Parkinson's disease patients with α-synuclein gene duplication and rapid cognitive decline
- (2010) Chae Won Shin et al. MOVEMENT DISORDERS
- Clinical course of the first Asian family with Parkinsonism related to SNCA triplication
- (2010) Takeshi Sekine et al. MOVEMENT DISORDERS
- A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2
- (2010) D. M. Kay et al. NEUROLOGY
- The co-occurrence of early onset Parkinson disease and 22q11.2 deletion syndrome
- (2009) Christina Zaleski et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- α-Synuclein Gene Rearrangements in Dominantly Inherited Parkinsonism
- (2009) Pablo Ibáñez ARCHIVES OF NEUROLOGY
- Mitochondrial dysfunction in Parkinson's disease
- (2009) Konstanze F. Winklhofer et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- CNV and nervous system diseases – what’s new?
- (2009) W. Gu et al. CYTOGENETIC AND GENOME RESEARCH
- Lmx1a and Lmx1b cooperate with Foxa2 to coordinate the specification of dopaminergic neurons and control of floor plate cell differentiation in the developing mesencephalon
- (2009) Tomoya Nakatani et al. DEVELOPMENTAL BIOLOGY
- Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population
- (2009) Karen Nuytemans et al. HUMAN MUTATION
- Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: Phenotypic characterization and frequency ofSNCA,PRKN,PINK1, andLRRK2mutations
- (2009) Sarah Teixeira Camargos et al. MOVEMENT DISORDERS
- Expanding the clinical phenotype of SNCA duplication carriers
- (2009) Kenya Nishioka et al. MOVEMENT DISORDERS
- Genome-wide association study reveals genetic risk underlying Parkinson's disease
- (2009) Javier Simón-Sánchez et al. NATURE GENETICS
- A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson’s disease
- (2009) Cécile Cazeneuve et al. NEUROGENETICS
- Analysis of exon dosage using MLPA in South African Parkinson's disease patients
- (2009) Rowena J. Keyser et al. NEUROGENETICS
- Structural Chromosomal Variations in Neurological Diseases
- (2009) Bernadette Kalman et al. NEUROLOGIST
- Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations
- (2009) N. Pankratz et al. NEUROLOGY
- α-Synuclein multiplication analysis in Italian familial Parkinson disease
- (2009) Francesca Sironi et al. PARKINSONISM & RELATED DISORDERS
- A Cross-Study Transcriptional Analysis of Parkinson's Disease
- (2009) Greg T. Sutherland et al. PLoS One
- Genomic investigation of α-synuclein multiplication and parkinsonism
- (2008) Owen A. Ross et al. ANNALS OF NEUROLOGY
- Patients Homozygous and Heterozygous for SNCA Duplication in a Family With Parkinsonism and Dementia
- (2008) Takeshi Ikeuchi et al. ARCHIVES OF NEUROLOGY
- ATP13A2variability in Parkinson disease
- (2008) Carles Vilariño-Güell et al. HUMAN MUTATION
- Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease
- (2008) Maria G. Macedo et al. MOVEMENT DISORDERS
- Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease
- (2008) Anne Rovelet-Lecrux et al. NEUROBIOLOGY OF DISEASE
- Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease
- (2008) Jung Mi Choi et al. NEUROGENETICS
- PROMINENT PSYCHIATRIC SYMPTOMS AND GLUCOSE HYPOMETABOLISM IN A FAMILY WITH A SNCA DUPLICATION
- (2008) T. Uchiyama et al. NEUROLOGY
- -Synuclein gene duplication is present in sporadic Parkinson disease
- (2008) A. R. Troiano et al. NEUROLOGY
- -Synuclein gene duplication is present in sporadic Parkinson disease
- (2008) N. Brueggemann et al. NEUROLOGY
- Supportive Evidence for Reduced Expression of GNB1L in Schizophrenia
- (2008) Hiroki Ishiguro et al. SCHIZOPHRENIA BULLETIN
- Genomewide SNP assay reveals mutations underlying Parkinson disease
- (2007) Javier Simon-Sanchez et al. HUMAN MUTATION
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