المؤلفون: David Melzer, John R B Perry, Dena Hernandez, Anna-Maria Corsi, Kara Stevens, Ian Rafferty, Fulvio Lauretani, Anna Murray, J Raphael Gibbs, Giuseppe Paolisso, Sajjad Rafiq, Javier Simon-Sanchez, Hana Lango, Sonja Scholz, Michael N Weedon, Sampath Arepalli, Neil Rice, Nicole Washecka, Alison Hurst, Angela Britton, William Henley, Joyce van de Leemput, Rongling Li, Anne B Newman, Greg Tranah, Tamara Harris, Vijay Panicker, Colin Dayan, Amanda Bennett, Mark I McCarthy, Aimo Ruokonen, Marjo-Riitta Jarvelin, Jack Guralnik, Stefania Bandinelli, Timothy M Frayling, Andrew Singleton, Luigi Ferrucci

المصدر: PLoS Genetics, Vol 4, Iss 5, p e1000072 (2008)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2362067?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/d2f227e9bb3c4268be2aa96b26a335ee

المؤلفون: Rita Guerreiro, John Hardy, Nicole Washecka, Andrew B. Singleton

المصدر: Human Mutation. 31:E1126-E1140

مصطلحات موضوعية: Molecular Sequence Data, tau Proteins, Biology, Article, Open Reading Frames, Exon, Progranulins, Genetic variation, Genetics, PSEN1, medicine, Humans, Missense mutation, Amino Acid Sequence, Genetic variability, Gene, Genetics (clinical), Genetic Variation, Exons, Frontotemporal lobar degeneration, medicine.disease, Protein Structure, Tertiary, Amino Acid Substitution, Intercellular Signaling Peptides and Proteins, Human genome, Sequence Alignment

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12ff6b15ec2b6e22472f39dcb8ed2dc0
https://doi.org/10.1002/humu.21152

المؤلفون: Stephen Berger, Orla Hardiman, Daniel G. Bradley, Jennifer C. Schymick, Nicole Washecka, Jinhui Ding, Simon Cronin, Matthew Greenway, Bryan J. Traynor, Dena G. Hernandez

المصدر: Human Molecular Genetics. 17:768-774

مصطلحات موضوعية: Male, medicine.medical_specialty, Potassium Channels, Statistics as Topic, Population, Neurology department, Neurogenetics, Nerve Tissue Proteins, Biology, Bioinformatics, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Cohort Studies, Gene Frequency, Irish, Genetics, medicine, Humans, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, education, Molecular Biology, Alleles, Genetics (clinical), Genotype determination, Aged, Oligonucleotide Array Sequence Analysis, Probability, education.field_of_study, Genome, Human, Amyotrophic Lateral Sclerosis, Chromosome Mapping, Genetic Variation, General Medicine, Middle Aged, humanities, language.human_language, Genetics, Population, Case-Control Studies, Family medicine, language, Female, Lod Score, Ireland, Chromosomes, Human, Pair 7, Peptide Hydrolases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::170153fd8edae046f9b62f7437e20be6
https://doi.org/10.1093/hmg/ddm361

المؤلفون: Elizabeth H. Corder, Priti Nath, Nicole Washecka, Andrew B. Singleton, Coro Paisán-Ruiz

المصدر: Annals of human genetics. 73(Pt 4)

مصطلحات موضوعية: Male, Neurogenetics, Single-nucleotide polymorphism, Biology, Protein Serine-Threonine Kinases, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Polymorphism, Single Nucleotide, White People, Article, Gene Frequency, Genotype, Genetics, Humans, Allele, Allele frequency, Genetics (clinical), Alleles, Aged, Aged, 80 and over, Case-control study, Parkinson Disease, Middle Aged, LRRK2, Genetic epidemiology, Case-Control Studies, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b569481540fd2b0fbb6282cbace64059
https://pubmed.ncbi.nlm.nih.gov/19489756

المؤلفون: Luigi Ferrucci, J. Raphael Gibbs, Michael N. Weedon, Tamara B. Harris, Alison J. Hurst, William Henley, Annamaria Corsi, Vijay Panicker, Colin M. Dayan, Amanda J. Bennett, Nicole Washecka, Kara Stevens, Stefania Bandinelli, Jack M. Guralnik, Giuseppe Paolisso, Sampath Arepalli, Marjo-Riitta Järvelin, Ian Rafferty, Joyce van de Leemput, John R. B. Perry, Sonja W. Scholz, Mark I. McCarthy, Gregory J. Tranah, Hana Lango, Javier Simón-Sánchez, Rongling Li, Aimo Ruokonen, Andrew B. Singleton, Anne B. Newman, Timothy M. Frayling, Fulvio Lauretani, Dena G. Hernandez, Neil Rice, Anna Murray, David Melzer, Sajjad Rafiq, Angela Britton

المساهمون: Melzer, D., Perry, J., Hernandez, D., Corsi, A., Stevens, K., Rafferty, I., Murray, A., Gibbs, J., Paolisso, Giuseppe, Rafiq, S., SIMON SANCHEZ, J., Lango, H., Sholz, S., Weedon, M., Arepalli, S., Rice, N., Washecka, N., Hurst, A., Britton, A., Henley, W., VAN DE LEEMPUT, J., Li, R., Newman, A., Tranah, G., Harris, T., Panicker, V., Dayan, C., Bennet, A., Mccarthy, M., Ruokonen, A., Jarvelin, M., Guralnik, J., Bandinelli, S., Frayling, T., Singleton, A., Ferrucci, L.

المصدر: PLoS Genetics
PLoS Genetics, Vol 4, Iss 5, p e1000072 (2008)

مصطلحات موضوعية: Male, Cancer Research, Transcription, Genetic, Genetic Linkage, Gene Dosage, Genome-wide association study, DISEASE, 0302 clinical medicine, Biochemistry/Protein Chemistry, Copy-number variation, Genetics and Genomics/Genetics of Disease, Genetics (clinical), Genetics & Heredity, RISK, Aged, 80 and over, Genetics, 0303 health sciences, BIRTH COHORT, interleukin, Genetics and Genomics/Functional Genomics, Genetics and Genomics/Gene Expression, Blood Proteins, Genetics and Genomics/Physiogenomics, Middle Aged, CANCER, Diabetes and Endocrinology, InCHIANTI study, 030220 oncology & carcinogenesis, MENDELIAN RANDOMIZATION, Female, Life Sciences & Biomedicine, Biochemistry/Transcription and Translation, Research Article, Adult, liver function markers, lcsh:QH426-470, Genotype, Cardiovascular Disorders, Quantitative Trait Loci, Single-nucleotide polymorphism, Genetics and Genomics/Complex Traits, Biology, Quantitative trait locus, Polymorphism, Single Nucleotide, 03 medical and health sciences, Genetic variation, Humans, YEAST, Allele, Molecular Biology, QH426, POLYMORPHISMS, Ecology, Evolution, Behavior and Systematics, Aged, 030304 developmental biology, 0604 Genetics, Science & Technology, HUMAN GENE-EXPRESSION, RECEPTOR, Genome, Human, Genetic Variation, Molecular biology, R1, COMMON VARIANT, lcsh:Genetics, Genetics and Genomics/Genome Projects, Expression quantitative trait loci, Liver function, Developmental Biology, Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d36265004a7387cae20b50ab502d3fd
http://ora.ox.ac.uk/objects/uuid:f50cb3e8-07f7-49bd-bb48-1ffa51841cd4

المؤلفون: Coro Paisán-Ruiz, Andrew B. Singleton, J. Raphael Gibbs, Nicole Washecka, Priti Nath

المصدر: Human mutation. 29(4)

مصطلحات موضوعية: Gene Dosage, Mutation, Missense, Single-nucleotide polymorphism, Locus (genetics), Biology, Protein Serine-Threonine Kinases, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Gene dosage, Polymorphism, Single Nucleotide, Gene Duplication, Gene duplication, Genetics, Missense mutation, Coding region, Humans, Genetics (clinical), Genetic association, Base Sequence, Parkinson Disease, DNA, Exons, LRRK2, nervous system diseases, Case-Control Studies, Mutation, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cec726281ea01c4272000f01c3c9757
https://pubmed.ncbi.nlm.nih.gov/18213618