Monogenic Parkinson’s Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing
出版年份 2022 全文链接
标题
Monogenic Parkinson’s Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing
作者
关键词
-
出版物
Genes
Volume 13, Issue 3, Pages 471
出版商
MDPI AG
发表日期
2022-03-07
DOI
10.3390/genes13030471
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。- Parkinson Disease and Subthalamic Nucleus Deep Brain Stimulation: Cognitive Effects in GBA Mutation Carriers
- (2022) Gian Pal et al. ANNALS OF NEUROLOGY
- Subthalamic deep brain stimulation in Parkinson's disease with SNCA mutations: Based on the follow‐up to 10 years
- (2022) Jinyoung Youn et al. Brain and Behavior
- Assessing the Relationship Between Monoallelic PRKN Mutations and Parkinson’s Risk
- (2021) Steven J Lubbe et al. HUMAN MOLECULAR GENETICS
- Targeting Mitochondrial Impairment in Parkinson's Disease: Challenges and Opportunities
- (2021) Jannik Prasuhn et al. Frontiers in Cell and Developmental Biology
- Identification of LRRK2 Missense Variants in the Accelerating Medicines Partnership Parkinson’s Disease Cohort
- (2021) Nicole Bryant et al. HUMAN MOLECULAR GENETICS
- A Novel SNCA A30G Mutation Causes Familial Parkinsonʼs Disease
- (2021) Hui Liu et al. MOVEMENT DISORDERS
- GP2 : The Global Parkinson's Genetics Program
- (2021) MOVEMENT DISORDERS
- Clinical manifestations of Parkinson's disease harboring VPS35 retromer complex component p.D620N with long-term follow-up
- (2021) Mayu Ishiguro et al. PARKINSONISM & RELATED DISORDERS
- Parkinson’s Clustering in Families of Non-Neuronopathic N370S GBA Mutation Carriers Indicates the Presence of Genetic Modifiers
- (2021) Tama Dinur et al. Journal of Parkinsons Disease
- LRP10 interacts with SORL1 in the intracellular vesicle trafficking pathway in non-neuronal brain cells and localises to Lewy bodies in Parkinson’s disease and dementia with Lewy bodies
- (2021) Martyna M. Grochowska et al. ACTA NEUROPATHOLOGICA
- The cell biology of Parkinson’s disease
- (2021) Nikhil Panicker et al. JOURNAL OF CELL BIOLOGY
- Genotype–Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review
- (2021) Christina Wittke et al. MOVEMENT DISORDERS
- Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism
- (2021) Suzanne Lesage et al. Frontiers in Neurology
- Association of Dual LRRK2 G2019S and GBA Variations With Parkinson Disease Progression
- (2021) Roberto A. Ortega et al. JAMA Network Open
- Potential PINK1 Founder Effect in Polynesia Causing Early‐Onset Parkinson's Disease
- (2021) Shilpan G. Patel et al. MOVEMENT DISORDERS
- Neuropathologic Findings in a Patient With Juvenile-Onset Levodopa Responsive Parkinsonism Due to ATP13A2 Mutation
- (2021) Hsin Fen Chien et al. NEUROLOGY
- Screening of LRP10 mutations in Parkinson's disease patients from Italy
- (2021) Arianna Manini et al. PARKINSONISM & RELATED DISORDERS
- Role of LRP10 in Parkinson's disease in a Taiwanese cohort
- (2021) Ting-Wei Liao et al. PARKINSONISM & RELATED DISORDERS
- UQCRC1 engages cytochrome c for neuronal apoptotic cell death
- (2021) Yu-Chien Hung et al. Cell Reports
- Frequency of Heterozygous Parkin (PRKN) Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort
- (2021) Maria Paulina Castelo Rueda et al. Frontiers in Neurology
- Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson’s disease: mutational spectrum and clinical features
- (2021) Jia Lun Lim et al. JOURNAL OF NEURAL TRANSMISSION
- An Update on the Critical Role of α-Synuclein in Parkinson’s Disease and Other Synucleinopathies: from Tissue to Cellular and Molecular Levels
- (2021) Iris N. Serratos et al. MOLECULAR NEUROBIOLOGY
- Dissecting the Phenotype and Genotype of PLA2G6 ‐Related Parkinsonism
- (2021) Francesca Magrinelli et al. MOVEMENT DISORDERS
- Increased Stroke Risk in Patients with Parkinson's Disease with LRRK2 Mutations
- (2021) Daniel Macías‐García et al. MOVEMENT DISORDERS
- Early‐Onset Parkinson's Disease: A Novel Deletion Comprising the DJ ‐1 and TNFRSF9 Genes
- (2021) Süleyman Güler et al. MOVEMENT DISORDERS
- New therapeutic approaches to Parkinson's disease targeting GBA, LRRK2 and Parkin
- (2021) Konstantin Senkevich et al. NEUROPHARMACOLOGY
- The commercial genetic testing landscape for Parkinson's disease
- (2021) Lola Cook et al. PARKINSONISM & RELATED DISORDERS
- Parkinson's disease-dementia in trans LRP10 and GBA variants: Response to deep brain stimulation
- (2021) Marcella Neri et al. PARKINSONISM & RELATED DISORDERS
- The PINK1—Parkin mitophagy signalling pathway is not functional in peripheral blood mononuclear cells
- (2021) Aaron V. Bradshaw et al. PLoS One
- Gene-corrected p.A30P SNCA patient-derived isogenic neurons rescue neuronal branching and function
- (2021) Peter A. Barbuti et al. Scientific Reports
- Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score
- (2020) Hirotaka Iwaki et al. MOVEMENT DISORDERS
- Lysosome and Inflammatory Defects in GBA1 ‐Mutant Astrocytes Are Normalized by LRRK2 Inhibition
- (2020) Anwesha Sanyal et al. MOVEMENT DISORDERS
- ATP13A2 deficiency disrupts lysosomal polyamine export
- (2020) Sarah van Veen et al. NATURE
- Characterization of recessive Parkinson's disease in a large multicenter study
- (2020) Suzanne Lesage et al. ANNALS OF NEUROLOGY
- The Role of VPS35 in the Pathobiology of Parkinson’s Disease
- (2020) Jenny Sassone et al. CELLULAR AND MOLECULAR NEUROBIOLOGY
- Impact of GBA1 variants on long-term clinical progression and mortality in incident Parkinson’s disease
- (2020) Thomas B Stoker et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Nonsteroidal Anti‐Inflammatory Use and LRRK2 Parkinson's Disease Penetrance
- (2020) Marta San Luciano et al. MOVEMENT DISORDERS
- Penetrance of Glucocerebrosidase ( GBA ) Mutations in Parkinson’s Disease: a Kin Cohort Study
- (2020) Roberta Balestrino et al. MOVEMENT DISORDERS
- Comprehensive assessment of PINK1 variants in Parkinson's disease
- (2020) Lynne Krohn et al. NEUROBIOLOGY OF AGING
- Early cognitive decline after bilateral subthalamic deep brain stimulation in Parkinson's disease patients with GBA mutations
- (2020) Graziella Mangone et al. PARKINSONISM & RELATED DISORDERS
- Neuropathological findings in PINK1-associated Parkinson's disease
- (2020) Camilla Jøsok Nybø et al. PARKINSONISM & RELATED DISORDERS
- Vps13 is required for the packaging of the ER into autophagosomes during ER-phagy
- (2020) Shuliang Chen et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Role of DJ-1 in Immune and Inflammatory Diseases
- (2020) Lulu Zhang et al. Frontiers in Immunology
- Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort
- (2020) Suzanne Lesage et al. Frontiers in Neurology
- Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect
- (2020) Marta Correa‐Vela et al. Annals of Clinical and Translational Neurology
- Analysis of Heterozygous PRKN Variants and Copy‐Number Variations in Parkinson's Disease
- (2020) Eric Yu et al. MOVEMENT DISORDERS
- Expanding Data Collection for the MDSGene Database: X‐Linked Dystonia‐Parkinsonism as Use Case Example
- (2020) Martje G. Pauly et al. MOVEMENT DISORDERS
- Mutation analysis of LRP10 in a large Chinese familial Parkinson disease cohort
- (2020) ChunYu Li et al. NEUROBIOLOGY OF AGING
- The Rostock International Parkinson's Disease ( ROPAD ) Study: Protocol and Initial Findings
- (2020) Volha Skrahina et al. MOVEMENT DISORDERS
- ATP13A2 Gene Variants in Patients with Parkinson’s Disease in Xinjiang
- (2020) Dan Wang et al. Biomed Research International
- Lack of evidence for association of UQCRC1 with Parkinson's disease in Europeans
- (2020) Konstantin Senkevich et al. NEUROBIOLOGY OF AGING
- Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease
- (2020) Prabhjyot Saini et al. NEUROBIOLOGY OF AGING
- Critical role of UQCRC1 in embryo survival, brain ischemic tolerance and normal cognition in mice
- (2019) Weiran Shan et al. CELLULAR AND MOLECULAR LIFE SCIENCES
- Contributions of VPS35 mutations to Parkinson’s Disease
- (2019) Abir A. Rahman et al. NEUROSCIENCE
- Reply to ‘TMEM230 variants in Parkinson’s disease’ and ‘Doubts about TMEM230 as a gene for parkinsonism’
- (2019) Han-Xiang Deng et al. NATURE GENETICS
- Doubts about TMEM230 as a gene for parkinsonism
- (2019) Matt J. Farrer NATURE GENETICS
- A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism
- (2019) Ana Westenberger et al. ANNALS OF NEUROLOGY
- LRP10 in autosomal‐dominant Parkinson's disease
- (2019) You Chen et al. MOVEMENT DISORDERS
- Parkinson's disease in the Western Pacific Region
- (2019) Shen-Yang Lim et al. LANCET NEUROLOGY
- Cancer outcomes among Parkinson's disease patients with leucine rich repeat kinase 2 mutations, idiopathic Parkinson's disease patients, and nonaffected controls
- (2019) Ilir Agalliu et al. MOVEMENT DISORDERS
- Mutation analysis of LRP10 in Japanese patients with familial Parkinson's disease, progressive supranuclear palsy, and frontotemporal dementia
- (2019) Kensuke Daida et al. NEUROBIOLOGY OF AGING
- DJ-1 in Parkinson’s Disease: Clinical Insights and Therapeutic Perspectives
- (2019) Mariaelena Repici et al. Journal of Clinical Medicine
- Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists
- (2019) Roy N. Alcalay et al. GENETICS IN MEDICINE
- Mutations in CHCHD2 cause α-synuclein aggregation
- (2019) Aya Ikeda et al. HUMAN MOLECULAR GENETICS
- Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence
- (2019) Hugo Morales-Briceño et al. BRAIN
- Genetic modifiers of risk and age at onset in GBA associated Parkinson’s disease and Lewy body dementia
- (2019) Cornelis Blauwendraat et al. BRAIN
- Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
- (2019) Mike A Nalls et al. LANCET NEUROLOGY
- LRRK2 Biology from structure to dysfunction: research progresses, but the themes remain the same
- (2019) Daniel C. Berwick et al. Molecular Neurodegeneration
- LRRK2 kinase activity regulates lysosomal glucocerebrosidase in neurons derived from Parkinson’s disease patients
- (2019) Daniel Ysselstein et al. Nature Communications
- Ten Years of the International Parkinson Disease Genomics Consortium: Progress and Next Steps
- (2019) Journal of Parkinsons Disease
- Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly
- (2018) Tatsiana Aneichyk et al. CELL
- LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study
- (2018) Marialuisa Quadri et al. LANCET NEUROLOGY
- Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin , PINK1 , DJ1: MDSGene Systematic Review
- (2018) Meike Kasten et al. MOVEMENT DISORDERS
- Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease
- (2018) Cornelis Blauwendraat et al. NEUROBIOLOGY OF AGING
- Juvenile-onset parkinsonism with pyramidal signs due to compound heterozygous mutations in the F-Box only protein 7 gene
- (2018) Lei Wei et al. PARKINSONISM & RELATED DISORDERS
- Alteration of endosomal trafficking is associated with early-onset parkinsonism caused by SYNJ1 mutations
- (2018) Dominga Fasano et al. Cell Death & Disease
- New insights into the complex role of mitochondria in Parkinson’s disease
- (2018) Anne Grünewald et al. PROGRESS IN NEUROBIOLOGY
- Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease
- (2018) Cornelis Blauwendraat et al. JAMA Neurology
- LRP10 in α-synucleinopathies
- (2018) Christelle Tesson et al. LANCET NEUROLOGY
- Genotype-phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review
- (2018) Joanne Trinh et al. MOVEMENT DISORDERS
- Carriers of both GBA and LRRK2 mutations, compared to carriers of either, in Parkinson's disease: Risk estimates and genotype-phenotype correlations
- (2018) Gilad Yahalom et al. PARKINSONISM & RELATED DISORDERS
- Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism
- (2018) Norbert Brüggemann et al. JAMA Neurology
- A Meta-Analysis of α-Synuclein Multiplication in Familial Parkinsonism
- (2018) Adam Book et al. Frontiers in Neurology
- The Parkinson’s disease-linked protein TMEM230 is required for Rab8a-mediated secretory vesicle trafficking and retromer trafficking
- (2017) Myung Jong Kim et al. HUMAN MOLECULAR GENETICS
- Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature
- (2017) Susanne A. Schneider et al. MOVEMENT DISORDERS
- Parkinson Sac Domain Mutation in Synaptojanin 1 Impairs Clathrin Uncoating at Synapses and Triggers Dystrophic Changes in Dopaminergic Axons
- (2017) Mian Cao et al. NEURON
- Loss of Parkinson’s disease-associated protein CHCHD2 affects mitochondrial crista structure and destabilizes cytochrome c
- (2017) Hongrui Meng et al. Nature Communications
- Genetic Analysis of LRRK2 R1628P in Parkinson’s Disease in Asian Populations
- (2017) Yuan Zhang et al. Parkinsons Disease
- Exploring cancer in LRRK2 mutation carriers and idiopathic Parkinson's disease
- (2017) Bjørg Johanne Warø et al. Brain and Behavior
- Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
- (2016) Suzanne Lesage et al. AMERICAN JOURNAL OF HUMAN GENETICS
- D NAJC 6 Mutations Associated With Early-Onset Parkinson's Disease
- (2016) Simone Olgiati et al. ANNALS OF NEUROLOGY
- Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism
- (2016) Andreas Puschmann et al. BRAIN
- DJ-1 linked parkinsonism (PARK7) is associated with Lewy body pathology
- (2016) Ricardo Taipa et al. BRAIN
- PTRHD1(C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism
- (2016) Hamidreza Khodadadi et al. MOVEMENT DISORDERS
- Identification of TMEM230 mutations in familial Parkinson's disease
- (2016) Han-Xiang Deng et al. NATURE GENETICS
- CHCHD2 gene mutations in familial and sporadic Parkinson's disease
- (2016) Chang-he Shi et al. NEUROBIOLOGY OF AGING
- Mutational scanning of the CHCHD2 gene in Han Chinese patients with Parkinson’s disease and meta-analysis of the literature
- (2016) Xinglong Yang et al. PARKINSONISM & RELATED DISORDERS
- CHCHD2 and Parkinson's disease
- (2015) Iris E Jansen et al. LANCET NEUROLOGY
- CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study
- (2015) Manabu Funayama et al. LANCET NEUROLOGY
- The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms
- (2015) Jin-Sung Park et al. MOVEMENT DISORDERS
- A new F-box protein 7 gene mutation causing typical Parkinson's disease
- (2015) Ebba Lohmann et al. MOVEMENT DISORDERS
- Higher Frequency of Certain Cancers inLRRK2G2019S Mutation Carriers With Parkinson Disease
- (2015) Ilir Agalliu et al. JAMA Neurology
- Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology
- (2014) Gabrielle R. Wilson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
- (2014) Sylvie Bannwarth et al. BRAIN
- The association between the LRRK2 G2385R variant and the risk of Parkinson’s disease: a meta-analysis based on 23 case–control studies
- (2014) Cheng-long Xie et al. NEUROLOGICAL SCIENCES
- A new Turkish family with homozygous FBXO7 truncating mutation and juvenile atypical parkinsonism
- (2014) Gul Yalcin-Cakmakli et al. PARKINSONISM & RELATED DISORDERS
- Comparison of Parkinson Risk in Ashkenazi Jewish Patients With Gaucher Disease andGBAHeterozygotes
- (2014) Roy N. Alcalay et al. JAMA Neurology
- DNAJC13 mutations in Parkinson disease
- (2013) Carles Vilariño-Güell et al. HUMAN MOLECULAR GENETICS
- The Parkinson's disease–linked proteins Fbxo7 and Parkin interact to mediate mitophagy
- (2013) Victoria S Burchell et al. NATURE NEUROSCIENCE
- Frequency of the D620N Mutation in VPS35 in Parkinson Disease
- (2012) Kishore R. Kumar et al. ARCHIVES OF NEUROLOGY
- Genetics of Parkinson disease and other movement disorders
- (2012) Kishore R. Kumar et al. CURRENT OPINION IN NEUROLOGY
- Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling
- (2012) Huma Q. Rana et al. GENETICS IN MEDICINE
- A clinical and family history study of Parkinson's disease in heterozygousglucocerebrosidasemutation carriers
- (2012) Alisdair McNeill et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- VPS35mutation in Japanese patients with typical Parkinson's disease
- (2012) Maya Ando et al. MOVEMENT DISORDERS
- Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers
- (2012) M. Anheim et al. NEUROLOGY
- DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability
- (2012) Çiğdem Köroğlu et al. PARKINSONISM & RELATED DISORDERS
- A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism
- (2012) Simon Edvardson et al. PLoS One
- A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease
- (2011) Alexander Zimprich et al. AMERICAN JOURNAL OF HUMAN GENETICS
- VPS35 Mutations in Parkinson Disease
- (2011) Carles Vilariño-Güell et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Progression of subtle motor signs in PINK1 mutation carriers with mild dopaminergic deficit
- (2010) C. Eggers et al. NEUROLOGY
- Endocytosis and clathrin-uncoating defects at synapses of auxilin knockout mice
- (2010) Y.-I. Yim et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease
- (2009) Juliane Neumann et al. BRAIN
- Elucidating the genetics and pathology of Perry syndrome
- (2009) Christian Wider et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- DCTN1 mutations in Perry syndrome
- (2009) Matthew J Farrer et al. NATURE GENETICS
- Characterization of PLA2G6 as a locus for dystonia-parkinsonism
- (2008) Coro Paisan-Ruiz et al. ANNALS OF NEUROLOGY
- Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
- (2008) Daniel G Healy et al. LANCET NEUROLOGY
- FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
- (2008) A. D. Fonzo et al. NEUROLOGY
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