标题
The genetics and neuropathology of Parkinson’s disease
作者
关键词
-
出版物
ACTA NEUROPATHOLOGICA
Volume 124, Issue 3, Pages 325-338
出版商
Springer Nature
发表日期
2012-07-17
DOI
10.1007/s00401-012-1013-5
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database
- (2012) Christina M. Lill et al. PLoS Genetics
- 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
- Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease
- (2011) Marie-Christine Chartier-Harlin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- VPS35 Mutations in Parkinson Disease
- (2011) Carles Vilariño-Güell et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Variable expression of neurofibromatosis 1 in monozygotic twins
- (2011) Margaret B. Rieley et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration
- (2011) M. C. Kruer et al. BRAIN
- Genome-wide association study confirms extant PD risk loci among the Dutch
- (2011) Javier Simón-Sánchez et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α-synuclein triplication (Iowa kindred)
- (2011) Katrina Gwinn et al. MOVEMENT DISORDERS
- Genetic characteristics of leucine-rich repeat kinase 2 (LRRK2) associated Parkinson’s disease
- (2011) Soraya Bardien et al. PARKINSONISM & RELATED DISORDERS
- Genome-Wide Gene-Environment Study Identifies Glutamate Receptor Gene GRIN2A as a Parkinson's Disease Modifier Gene via Interaction with Coffee
- (2011) Taye H. Hamza et al. PLoS Genetics
- Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson's Disease
- (2011) Chuong B. Do et al. PLoS Genetics
- Genome-Wide Association Study Confirms SNPs inSNCAand theMAPTRegion as Common Risk Factors for Parkinson Disease
- (2010) Todd L. Edwards et al. ANNALS OF HUMAN GENETICS
- Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)
- (2010) Michael C. Kruer et al. ANNALS OF NEUROLOGY
- PINK1-linked parkinsonism is associated with Lewy body pathology
- (2010) Lluís Samaranch et al. BRAIN
- Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21
- (2010) et al. HUMAN MOLECULAR GENETICS
- Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)
- (2010) Katherine J. Dick et al. HUMAN MUTATION
- Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update
- (2010) Karen Nuytemans et al. HUMAN MUTATION
- PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy
- (2010) Noriyuki Matsuda et al. JOURNAL OF CELL BIOLOGY
- Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations
- (2010) Coro Paisán-Ruiz et al. MOVEMENT DISORDERS
- ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation
- (2010) Susanne A. Schneider et al. MOVEMENT DISORDERS
- PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1
- (2010) Sven Geisler et al. NATURE CELL BIOLOGY
- Leucine-Rich Repeat Kinase 2 Gene-Associated Disease: Redefining Genotype-Phenotype Correlation
- (2010) Christian Wider et al. Neurodegenerative Diseases
- Homozygosity mapping through whole genome analysis identifies aCOL18A1mutation in an Indian family presenting with an autosomal recessive neurological disorder
- (2009) Coro Paisán-Ruiz et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- SNCAvariants are associated with increased risk for multiple system atrophy
- (2009) Sonja W. Scholz et al. ANNALS OF NEUROLOGY
- ATP13A2variants in early-onset Parkinson's disease patients and controls
- (2009) Ana Djarmati et al. MOVEMENT DISORDERS
- Expanding the clinical phenotype of SNCA duplication carriers
- (2009) Kenya Nishioka et al. MOVEMENT DISORDERS
- Neuropathology of Parkinson's disease with the R1441G mutation inLRRK2
- (2009) José-Félix Martí-Massó et al. MOVEMENT DISORDERS
- Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease
- (2009) Wataru Satake et al. NATURE GENETICS
- Genome-wide association study reveals genetic risk underlying Parkinson's disease
- (2009) Javier Simón-Sánchez et al. NATURE GENETICS
- DCTN1 mutations in Perry syndrome
- (2009) Matthew J Farrer et al. NATURE GENETICS
- Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
- (2009) E. Sidransky et al. NEW ENGLAND JOURNAL OF MEDICINE
- Genetic Variants of the α-Synuclein Gene SNCA Are Associated with Multiple System Atrophy
- (2009) Ammar Al-Chalabi et al. PLoS One
- Genome-wide Linkage Analysis of a Parkinsonian-Pyramidal Syndrome Pedigree by 500 K SNP Arrays
- (2008) Seyedmehdi Shojaee et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Characterization of PLA2G6 as a locus for dystonia-parkinsonism
- (2008) Coro Paisan-Ruiz et al. ANNALS OF NEUROLOGY
- The Spectrum of Parkinsonian Manifestations Associated With Glucocerebrosidase Mutations
- (2008) Ozlem Goker-Alpan et al. ARCHIVES OF NEUROLOGY
- The Gly2019Ser mutation in LRRK2is not fully penetrant in familial Parkinson's disease: the GenePD study
- (2008) Jeanne C Latourelle et al. BMC Medicine
- Genomewide association study for susceptibility genes contributing to familial Parkinson disease
- (2008) Nathan Pankratz et al. HUMAN GENETICS
- Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
- (2008) Daniel G Healy et al. LANCET NEUROLOGY
- Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease
- (2008) Jung Mi Choi et al. NEUROGENETICS
- CLINICOPATHOLOGIC STUDY OF A SNCA GENE DUPLICATION PATIENT WITH PARKINSON DISEASE AND DEMENTIA
- (2008) T. Obi et al. NEUROLOGY
- FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
- (2008) A. D. Fonzo et al. NEUROLOGY
- SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia
- (2008) C. Paisan-Ruiz et al. NEUROLOGY
- PARK9-LINKED PARKINSONISM IN EASTERN ASIA: MUTATION DETECTION IN ATP13A2 AND CLINICAL PHENOTYPE
- (2008) Y. P. Ning et al. NEUROLOGY
- Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)
- (2008) M. A. Kurian et al. NEUROLOGY
- Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia
- (2008) George D. Mellick et al. PARKINSONISM & RELATED DISORDERS
- Familial parkinsonism: Study of original Sagamihara PARK8 (I2020T) kindred with variable clinicopathologic outcomes
- (2008) Kazuko Hasegawa et al. PARKINSONISM & RELATED DISORDERS
- Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations
- (2007) Ester Ballana et al. HUMAN MUTATION
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