Journal ArticleDOI
Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease.
Prabhjyot Saini,Uladzislau Rudakou,Eric Yu,Jennifer A. Ruskey,Farnaz Asayesh,Sandra B. Laurent,Dan Spiegelman,Stanley Fahn,Cheryl Waters,Oury Monchi,Yves Dauvilliers,Nicolas Dupré,Lior Greenbaum,Sharon Hassin-Baer,Alberto J. Espay,Guy A. Rouleau,Roy N. Alcalay,Edward A. Fon,Ronald B. Postuma,Ziv Gan-Or,Ziv Gan-Or +20 more
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TLDR
The results do not support an association between any of the 5 tested genes with Parkinson's disease, and it is unlikely that any of these genes plays an important role in PD.About:
This article is published in Neurobiology of Aging.The article was published on 2021-04-01. It has received 17 citations till now.read more
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Journal Article
MDS Clinical Diagnostic Criteria for Parkinson's Disease (S19.001)
Ronald B. Postuma,Daniela Berg +1 more
TL;DR: The International Parkinson and Movement Disorder Society (MDS) Clinical Diagnostic Criteria for Parkinson9s disease as discussed by the authors have been proposed for clinical diagnosis, which are intended for use in clinical research, but may also be used to guide clinical diagnosis.
Identification of TMEM230 mutations in familial Parkinson's disease
Han Xiang Deng,Yong Shi,Yi Yang,Kreshnik B. Ahmeti,Nimrod Miller,Cao Huang,Lijun Cheng,Hong Zhai,Sheng Deng,Karen Nuytemans,Nicola J. Corbett,Myung Jong Kim,Hao Deng,Baisha Tang,Ziquang Yang,Yanming Xu,Piao Chen,Bo Huang,Xiao-Ping Gao,Zhi Song,Zhenhua Liu,Faisal Fecto,Nailah Siddique,Tatiana Foroud,Joseph Jankovic,Bernardino Ghetti,Daniel A. Nicholson,Dimitri Krainc,Onur Melen,Jeffery M. Vance,Margaret A. Pericak-Vance,Yong Chao Ma,Ali H. Rajput,Teepu Siddique +33 more
TL;DR: This work reports a locus for autosomal dominant, clinically typical and Lewy body–confirmed Parkinson's disease on the short arm of chromosome 20 (20pter-p12) and identifies TMEM230 as the disease-causing gene and shows that it encodes a transmembrane protein of secretory/recycling vesicles, including synaptic vesicle trafficking in neurons.
Journal ArticleDOI
The Genetics of Parkinson’s Disease and Implications for Clinical Practice
TL;DR: The genetic landscape of Parkinson's disease is characterized by rare high penetrance pathogenic variants causing familial disease, genetic risk factor variants driving PD risk in a significant minority in PD cases and high frequency, low penetrance variants, which contribute a small increase of the risk of developing sporadic PD as mentioned in this paper.
Journal Article
No genetic association of the ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism with familial Parkinson's disease
C Levecque,Alain Destée,Vincent Mouroux,Estelle Becquet,Luc Defebvre,Philippe Amouyel,Marie-Christine Chartier-Harlin +6 more
TL;DR: No association was observed, indicating that this polymorphism did not confer susceptibility for familial PD in the authors' population, even among the youngest age of onset group, which suggests that the previous positive results obtained may reflect mechanisms restricted to the sporadic form of the disease or to a founder effect of the Disease susceptibility.
Journal ArticleDOI
Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update
Lara Lange,Paulina Gonzalez-Latapi,Rajasumi Rajalingam,Marina A. J. Tijssen,Darius Ebrahimi-Fakhari,C. H. Gabbert,Christos Ganos,Rhia Ghosh,Kishore R. Kumar,Anthony E. Lang,Marco Rossi,S. van der Veen,Bart P.C. van de Warrenburg,Tom Warner,Katja Lohmann,Christine Klein,Connie Marras +16 more
TL;DR: In 2016, the International Parkinson and Movement Disorder Society Task Force for the Nomenclature of Genetic Movement Disorders presented a new system for naming genetically determined movement disorders and provided a criterion-based list of confirmed monogenic movement disorders as mentioned in this paper .
References
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Journal ArticleDOI
Fast and accurate short read alignment with Burrows–Wheeler transform
Heng Li,Richard Durbin +1 more
TL;DR: Burrows-Wheeler Alignment tool (BWA) is implemented, a new read alignment package that is based on backward search with Burrows–Wheeler Transform (BWT), to efficiently align short sequencing reads against a large reference sequence such as the human genome, allowing mismatches and gaps.
Journal ArticleDOI
PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses
Shaun Purcell,Shaun Purcell,Benjamin M. Neale,Benjamin M. Neale,Kathe Todd-Brown,Lori Thomas,Manuel A. R. Ferreira,David Bender,David Bender,Julian Maller,Julian Maller,Pamela Sklar,Pamela Sklar,Paul I.W. de Bakker,Paul I.W. de Bakker,Mark J. Daly,Mark J. Daly,Pak C. Sham +17 more
TL;DR: This work introduces PLINK, an open-source C/C++ WGAS tool set, and describes the five main domains of function: data management, summary statistics, population stratification, association analysis, and identity-by-descent estimation, which focuses on the estimation and use of identity- by-state and identity/descent information in the context of population-based whole-genome studies.
Journal ArticleDOI
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna,Matthew Hanna,Eric Banks,Andrey Sivachenko,Kristian Cibulskis,Andrew Kernytsky,Kiran V. Garimella,David Altshuler,Stacey Gabriel,Mark J. Daly,Mark A. DePristo +10 more
TL;DR: The GATK programming framework enables developers and analysts to quickly and easily write efficient and robust NGS tools, many of which have already been incorporated into large-scale sequencing projects like the 1000 Genomes Project and The Cancer Genome Atlas.
Journal ArticleDOI
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
TL;DR: The ANNOVAR tool to annotate single nucleotide variants and insertions/deletions, such as examining their functional consequence on genes, inferring cytogenetic bands, reporting functional importance scores, finding variants in conserved regions, or identifying variants reported in the 1000 Genomes Project and dbSNP is developed.
Journal ArticleDOI
Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases.
TL;DR: The pathological findings in 100 patients diagnosed prospectively by a group of consultant neurologists as having idiopathic Parkinson's disease are reported, and these observations call into question current concepts of Parkinson's Disease as a single distinct morbid entity.
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