المؤلفون: Arne De Roeck, Wouter De Coster, Liene Bossaerts, Rita Cacace, Tim De Pooter, Jasper Van Dongen, Svenn D’Hert, Peter De Rijk, Mojca Strazisar, Christine Van Broeckhoven, Kristel Sleegers

المصدر: Genome Biology, Vol 20, Iss 1, Pp 1-16 (2019)

مصطلحات موضوعية: Long-read whole genome sequencing, Dynamic time warping (DTW), Variable number tandem repeat (VNTR), ATP-binding cassette, Sub-family A, Member 7 (ABCA7), Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13059-019-1856-3; https://doaj.org/toc/1474-760X

URL الوصول: https://doaj.org/article/1d02fd4ea8c841ecbdd6acbde58630b6

المؤلفون: De Roeck, Arne, Duchateau, Lena, Van Dongen, Jasper, Cacace, Rita, Bjerke, Maria, Van den Bossche, Tobi, Cras, Patrick, Vandenberghe, Rik, De Deyn, Peter P, Engelborghs, Sebastiaan, Van Broeckhoven, Christine, Sleegers, Kristel, BELNEU Consortium, Ivanoiu, Adrian

المساهمون: UCL - SSS/IONS - Institute of NeuroScience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie

المصدر: Acta neuropathologica, Vol. 135, no. 6, p. 827-837 (2018)

مصطلحات موضوعية: ATP-Binding Cassette Transporters, Aged, 80 and over, Alternative Splicing, Alzheimer Disease, Biomarkers, Brain, Exons, Female, Gene Expression, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Introns, Male, Middle Aged, Minisatellite Repeats, Prospective Studies, Protein Isoforms, ATP-Binding Cassette, Sub-Family A, Member 7 (ABCA7), Alzheimer’s disease, Cerebrospinal fluid (CSF) biomarkers, Variable number tandem repeat (VNTR)

Relation: boreal:221766; http://hdl.handle.net/2078.1/221766; info:pmid/29589097; urn:ISSN:0001-6322; urn:EISSN:1432-0533

الاتاحة: http://hdl.handle.net/2078.1/221766
https://doi.org/10.1007/s00401-018-1841-z

المؤلفون: De Roeck, Arne, Van den Bossche, Tobi, van der Zee, Julie, Verheijen, Jan, De Coster, Wouter, Van Dongen, Jasper, Dillen, Lubina, Baradaran-Heravi, Yalda, Heeman, Bavo, Sanchez-Valle, Raquel, Llado Plarrumani, Albert, Nacmias, Benedetta, Sorbi, Sandro, Gelpi, Ellen, Grau-Rivera, Oriol, Gómez-Tortosa, Estrella, Pastor, Pau, Ortega-Cubero, Sara, Pastor, Maria A., Graff, Caroline, Thonberg, HÃ¥kan, Benussi, Luisa, Ghidoni, Roberta, Binetti, Giuliano, de Mendonça, Alexandre, Martins, Madalena, Borroni, Barbara, Padovani, Alessandro, Almeida, Maria Rosário, Santana, Isabel, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Clarimón, Jordi, Lleó, Alberto, Fortea, Juan, Tsolaki, Magda, Koutroumani, Maria, Matej, Radoslav, Rohan, Zdenek, De Deyn, Peter Paul, Engelborghs, Sebastiaan, Cras, Patrick, Van Broeckhoven, Christine, Sleegers, Kristel, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Early Onset Alzheimer's disease, ATP-Binding Cassette, Sub-Family A, Member 7 (ABCA7), Third-generation long-read sequencing, RNA sequencing, Loss-of-function, Modifier

وصف الملف: application/pdf

Relation: Agència de Gestió d'Ajuts Universitaris i de Recerca 2014SGR-0235; Instituto de Salud Carlos III PI12-01311; Instituto de Salud Carlos III PI14-00282; Acta Neuropathologica; Vol. 134 (april 2017), p. 475-487; https://ddd.uab.cat/record/186219; urn:10.1007/s00401-017-1714-x; urn:oai:ddd.uab.cat:186219; urn:pmid:28447221; urn:pmcid:PMC5563332; urn:pmc-uid:5563332; urn:articleid:14320533v134p475; urn:scopus_id:85018272631; urn:wos_id:000407931900009; urn:altmetric_id:19660576; urn:oai:egreta.uab.cat:publications/d9bfd5ed-c079-475e-9f82-99b568a6c210; urn:oai:pubmedcentral.nih.gov:5563332

الاتاحة: https://ddd.uab.cat/record/186219

المؤلفون: Christine Van Broeckhoven, Arne De Roeck, Kristel Sleegers

المصدر: Acta neuropathologica
Acta Neuropathologica

مصطلحات موضوعية: Male, 0301 basic medicine, Genome-wide association study, Minisatellite Repeats, Review, ABCA7, Mice, Cognition, 0302 clinical medicine, Ethnicity, Missense mutation, Genes, Dominant, Genetics, biology, Brain, Genomics, Endophenotype, Variable number tandem repeat, Codon, Nonsense, Female, Alzheimer’s disease, Risk, Amyloid, Mutation, Missense, Locus (genetics), Polymorphism, Single Nucleotide, Loss-of-function, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, Alzheimer Disease, Animals, Humans, Genetic Predisposition to Disease, Loss function, Genetic association, Variable number tandem repeat (VNTR), ATP-binding cassette, sub-family A, member 7 (ABCA7), Rare variants, DNA Methylation, Lipid Metabolism, Disease Models, Animal, Meta-analysis, 030104 developmental biology, biology.protein, ATP-Binding Cassette Transporters, CpG Islands, Neurology (clinical), Human medicine, Atrophy, Transcriptome, 030217 neurology & neurosurgery

وصف الملف: pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cfa1fae103ceb064df3bda54073f066
https://hdl.handle.net/10067/1618580151162165141

المؤلفون: Liene Bossaerts, Kristel Sleegers, Rita Cacace, Peter De Rijk, Mojca Strazisar, Svenn D’Hert, Christine Van Broeckhoven, Arne De Roeck, Jasper Van Dongen, Tim De Pooter, Wouter De Coster

المصدر: Genome biology
Genome Biology, Vol 20, Iss 1, Pp 1-16 (2019)
Genome Biology

مصطلحات موضوعية: lcsh:QH426-470, Method, Flow cell, Minisatellite Repeats, Member 7 (ABCA7), Computational biology, Biology, Genome, Tandem repeat, Humans, lcsh:QH301-705.5, ATP-binding cassette, Sub-family A, Genome, Human, Variable number tandem repeat (VNTR), High-Throughput Nucleotide Sequencing, Long-read whole genome sequencing, Genomics, Dynamic time warping (DTW), Human genetics, lcsh:Genetics, lcsh:Biology (General), Tandem Repeat Sequences, Feasibility Studies, ATP-Binding Cassette Transporters, Human genome, Base calling, Nanopore sequencing, Human medicine, Alzheimer’s disease, Engineering sciences. Technology, Algorithms

وصف الملف: pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1fea56e855d6ec238bad0deb9efa5cd
https://hdl.handle.net/10067/1639890151162165141

المؤلفون: Peter Paul De Deyn, Kristel Sleegers, Raquel Sánchez-Valle, Ellen Gelpi, Zdenek Rohan, Isabel Santana, Julie van der Zee, Patrick Cras, Panagiotis Alexopoulos, Madalena Martins, A. Lleo, Håkan Thonberg, Alessandro Padovani, Giuliano Binetti, Sandro Sorbi, Albert Lladó, Sebastiaan Engelborghs, Bavo Heeman, Tobi Van den Bossche, Alexandre de Mendonça, Pau Pastor, Christine Van Broeckhoven, Arne De Roeck, Maria Koutroumani, Janine Diehl-Schmid, Maria Rosário Almeida, Juan Fortea, Jasper Van Dongen, Sara Ortega-Cubero, Roberta Ghidoni, Lubina Dillen, Oriol Grau-Rivera, Estrella Gómez-Tortosa, Luisa Benussi, Maria A. Pastor, Benedetta Nacmias, Wouter De Coster, Caroline Graff, Jordi Clarimón, Magda Tsolaki, Jan Verheijen, Yalda Baradaran-Heravi, Barbara Borroni, Radoslav Matěj

المساهمون: European Early-Onset Dementia, Clinical sciences, Neurology, Physiotherapy, Human Physiology and Anatomy, Pathologic Biochemistry and Physiology, European Early-Onset Dementia (EU EOD) consortium

المصدر: Acta neuropathologica
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Acta Neuropathologica

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, endocrine system diseases, ATP-Binding Cassette Transporters/genetics, Early Onset Alzheimer’s disease, Member 7 (ABCA7), Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Pathology and Forensic Medicine, ABCA7, Loss-of-function, 03 medical and health sciences, Cellular and Molecular Neuroscience, Third-generation long-read sequencing, Alzheimer Disease, medicine, Coding region, Humans, Early-onset Alzheimer's disease, Genetic Predisposition to Disease, Age of Onset, Modifier, Gene, Genetic Association Studies, Aged, Medicine(all), Genetics, Alzheimer Disease/genetics, Mutation, Original Paper, Sub-Family A, Alternative splicing, RNA sequencing, Middle Aged, medicine.disease, Penetrance, 3. Good health, 030104 developmental biology, biology.protein, Early Onset Alzheimer's disease, ATP-Binding Cassette Transporters, Female, ATP-Binding Cassette, Neurology (clinical), Human medicine, Age of onset

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d653d1d06c9cb38979f7391ffa84454f
https://hdl.handle.net/10067/1456880151162165141