Cargando…

Whole-exome sequencing of 228 patients with sporadic Parkinson’s disease

Parkinson’s disease (PD) is the most common neurodegenerative movement disorder, affecting 1% of the population over 65 years characterized clinically by both motor and non-motor symptoms accompanied by the preferential loss of dopamine neurons in the substantia nigra pars compacta. Here, we sequenc...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sandor, Cynthia, Honti, Frantisek, Haerty, Wilfried, Szewczyk-Krolikowski, Konrad, Tomlinson, Paul, Evetts, Sam, Millin, Stephanie, Keane, Thomas, McCarthy, Shane A., Durbin, Richard, Talbot, Kevin, Hu, Michele, Webber, Caleb, Ponting, Chris P., Wade-Martins, Richard
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5259721/ https://www.ncbi.nlm.nih.gov/pubmed/28117402 http://dx.doi.org/10.1038/srep41188

Ejemplares similares

Unbiased Functional Clustering of Gene Variants with a Phenotypic-Linkage Network
por: Honti, Frantisek, et al.
Publicado: (2014)

Haploinsufficiency predictions without study bias
por: Steinberg, Julia, et al.
Publicado: (2015)

Mutations within lncRNAs are effectively selected against in fruitfly but not in human
por: Haerty, Wilfried, et al.
Publicado: (2013)

Unexpected selection to retain high GC content and splicing enhancers within exons of multiexonic lncRNA loci
por: Haerty, Wilfried, et al.
Publicado: (2015)

Extensive microRNA-mediated crosstalk between lncRNAs and mRNAs in mouse embryonic stem cells
por: Tan, Jennifer Y., et al.
Publicado: (2015)

Microglia recapitulate a hematopoietic master regulator network in the aging human frontal cortex
por: Wehrspaun, Claudia C., et al.
Publicado: (2015)

The decay scheme of $^{228}$Fr and $K=0$ bands in $^{228}$Ra
por: Ruchowska, E, et al.
Publicado: (1982)

Rapid Evolution of Beta-Keratin Genes Contribute to Phenotypic Differences That Distinguish Turtles and Birds from Other Reptiles
por: Li, Yang I., et al.
Publicado: (2013)

Exome sequencing in undiagnosed inherited and sporadic ataxias
por: Pyle, Angela, et al.
Publicado: (2015)

RBFOX and PTBP1 proteins regulate the alternative splicing of micro-exons in human brain transcripts
por: Li, Yang I., et al.
Publicado: (2015)

A gene expression signature in developing Purkinje cells predicts autism and intellectual disability co-morbidity status
por: Clifford, Harry, et al.
Publicado: (2019)

T228. VARIABILITY AND UNDERUTILISATION OF CLOZAPINE IN SPAIN
por: Sanz-Fuentenebro, Francisco Javier, et al.
Publicado: (2018)

Health Tract, No. 228: Popular Fallacies
Publicado: (1865)

Identification of molecular signatures specific for distinct cranial sensory ganglia in the developing chick
por: Patthey, Cedric, et al.
Publicado: (2016)

Integrated Whole-Exome and Transcriptome Sequencing of Sporadic Parathyroid Adenoma
por: Hu, Ya, et al.
Publicado: (2021)

The clustering of functionally related genes contributes to CNV-mediated disease
por: Andrews, Tallulah, et al.
Publicado: (2015)

The new neutron-rich isotope $^{228}$Rn
por: García-Borge, M J, et al.
Publicado: (1989)

Study of internal conversion electrons in $^{228}$Ra
por: García-Borge, M J, et al.
Publicado: (1986)

228. Increased Incidence of Invasive Haemophilus influenzae Infections in Adults in Central Massachusetts
por: Qadri, Qadija H, et al.
Publicado: (2023)

Exome sequencing to identify de novo mutations in sporadic ALS trios
por: Chesi, Alessandra, et al.
Publicado: (2013)

Identification of genetic variants affecting vitamin D receptor binding and associations with autoimmune disease
por: Gallone, Giuseppe, et al.
Publicado: (2017)

Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy
por: Esslinger, Ulrike, et al.
Publicado: (2017)

Identification of functional long non-coding RNAs in C. elegans
por: Akay, Alper, et al.
Publicado: (2019)

Bias of Selection on Human Copy-Number Variants
por: Nguyen, Duc-Quang, et al.
Publicado: (2006)

Whole-exome sequencing for finding de novo mutations in sporadic mental retardation
por: Robinson, Peter N
Publicado: (2010)

Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis
por: Salvi, Alessandro, et al.
Publicado: (2016)

Whole‐exome sequencing analysis in 10 families of sporadic microtia with thoracic deformities
por: Yang, Meirong, et al.
Publicado: (2021)

An implanted $^{228}$Ra source for response characterization of bolometers
por: Brofferio, Chiara, et al.
Publicado: (2015)

FK228 from Burkholderia thailandensis MSMB43
por: Liu, Xiang-Yang, et al.
Publicado: (2012)

Quadrupole-deformed and octupole collective bands in $^{228}$Ra
por: Gulda, K, et al.
Publicado: (1998)

PSAT228 Hereditary Hypophosphatemic Rickets: Management in Adults
por: Manas, F N U, et al.
Publicado: (2022)

Identification and Properties of 1,119 Candidate LincRNA Loci in the Drosophila melanogaster Genome
por: Young, Robert S., et al.
Publicado: (2012)

Correction: Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy
por: Esslinger, Ulrike, et al.
Publicado: (2020)

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
por: O’Roak, Brian J., et al.
Publicado: (2011)

Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy
por: Long, Pamela A., et al.
Publicado: (2015)

Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes
por: Guipponi, Michel, et al.
Publicado: (2014)

Investigation of Pathogenic Genes in Chinese sporadic Hypertrophic Cardiomyopathy Patients by Whole Exome Sequencing
por: Xu, Jing, et al.
Publicado: (2015)

Whole Exome Sequencing Uncovers Germline Variants of Cancer-Related Genes in Sporadic Pheochromocytoma
por: Urbini, Milena, et al.
Publicado: (2018)

228 PCR Analysis of Microorganisms in Chronic Rhinosinusitis with Nasal Polyps
por: Hirotsu, Mikio, et al.
Publicado: (2012)

Laparoscopic adjustable gastric banding: a report of 228 cases
por: Wang, Xin, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_if5ispg71na0qi1jk4dbgrn343