المؤلفون: Schlosser, Pascal, Tin, Adrienne, Matias-Garcia, Pamela R., Thio, Chris H. L., Joehanes, Roby, Liu, Hongbo, Weihs, Antoine, Yu, Zhi, Hoppmann, Anselm, Grundner-Culemann, Franziska, Min, Josine L., Adeyemo, Adebowale A., Agyemang, Charles, Ärnlöv, Johan, Aziz, Nasir A., Baccarelli, Andrea, Bochud, Murielle, Brenner, Hermann, Breteler, Monique M. B., Carmeli, Cristian, Chaker, Layal, Chambers, John C., Cole, Shelley A., Coresh, Josef, Corre, Tanguy, Correa, Adolfo, Cox, Simon R., de Klein, Niek, Delgado, Graciela E., Domingo-Relloso, Arce, Eckardt, Kai-Uwe, Ekici, Arif B., Endlich, Karlhans, Evans, Kathryn L., Floyd, James S., Fornage, Myriam, Franke, Lude, Fraszczyk, Eliza, Gao, Xu, Gào, Xīn, Ghanbari, Mohsen, Ghasemi, Sahar, Gieger, Christian, Greenland, Philip, Grove, Megan L., Harris, Sarah E., Hemani, Gibran, Henneman, Peter, Herder, Christian, Horvath, Steve, Hou, Lifang, Hurme, Mikko A., Hwang, Shih-Jen, Jarvelin, Marjo-Riitta, Kardia, Sharon L. R., Kasela, Silva, Kleber, Marcus E., Koenig, Wolfgang, Kooner, Jaspal S., Kramer, Holly, Kronenberg, Florian, Kühnel, Brigitte, Lehtimäki, Terho, Lind, Lars, Liu, Dan, Liu, Yongmei, Lloyd-Jones, Donald M., Lohman, Kurt, Lorkowski, Stefan, Lu, Ake T., Marioni, Riccardo E., März, Winfried, McCartney, Daniel L., Meeks, Karlijn A. C., Milani, Lili, Mishra, Pashupati P., Nauck, Matthias, Navas-Acien, Ana, Nowak, Christoph, Peters, Annette, Prokisch, Holger, Psaty, Bruce M., Raitakari, Olli T., Ratliff, Scott M., Reiner, Alex P., Rosas, Sylvia E., Schöttker, Ben, Schwartz, Joel, Sedaghat, Sanaz, Smith, Jennifer A., Sotoodehnia, Nona, Stocker, Hannah R., Stringhini, Silvia, Sundström, Johan, Swenson, Brenton R., Tellez-Plaza, Maria, van Meurs, Joyce B. J., van Vliet-Ostaptchouk, Jana V., Venema, Andrea, Verweij, Niek, Walker, Rosie M., Wielscher, Matthias, Winkelmann, Juliane, Wolffenbuttel, Bruce H. R., Zhao, Wei, Zheng, Yinan, Esko, Tõnu, Metspalu, Andres, Mägi, Reedik, Nelis, Mari, Loh, Marie, Snieder, Harold, Levy, Daniel, Waldenberger, Melanie, Susztak, Katalin, Köttgen, Anna, Teumer, Alexander

المساهمون: Public and occupational health, APH - Personalized Medicine, APH - Global Health, Human Genetics, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development, ACS - Diabetes & metabolism, ACS - Atherosclerosis & ischemic syndromes, Stem Cell Aging Leukemia and Lymphoma (SALL), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Center for Liver, Digestive and Metabolic Diseases (CLDM), Life Course Epidemiology (LCE), Tampere University, BioMediTech, Department of Clinical Chemistry, Clinical Medicine, Estonian Biobank Research Team, Genetics of DNA Methylation Consortium, Milani, L., Clinical Genetics, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development, Epidemiology, Internal Medicine, Lee Kong Chian School of Medicine (LKCMedicine)

المصدر: Nature communications, 12(1):7174. Nature Publishing Group
Nature Communications, 12:7174. Nature Publishing Group
Nature communications, vol. 12, no. 1, pp. 7174
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
Repisalud
Instituto de Salud Carlos III (ISCIII)
Nature Communications
Nat. Commun. 12:7174 (2021)
Nature Communications, 12(1):7174. Nature Publishing Group
et al. 2021, ' Meta-analyses identify DNA methylation associated with kidney function and damage ', Nature Communications, vol. 12, 7174 (2021) . https://doi.org/10.1038/s41467-021-27234-3Test
Schlosser, P, Tin, A, Matias-garcia, P R, Thio, C H L, Joehanes, R, Liu, H, Weihs, A, Yu, Z, Hoppmann, A, Grundner-culemann, F, Min, J L, Adeyemo, A A, Agyemang, C, Ärnlöv, J, Aziz, N A, Baccarelli, A, Bochud, M, Brenner, H, Breteler, M M B, Carmeli, C, Chaker, L, Chambers, J C, Cole, S A, Coresh, J, Corre, T, Correa, A, Cox, S R, De Klein, N, Delgado, G E, Domingo-relloso, A, Eckardt, K, Ekici, A B, Endlich, K, Evans, K L, Floyd, J S, Fornage, M, Franke, L, Fraszczyk, E, Gao, X, Gào, X, Ghanbari, M, Ghasemi, S, Gieger, C, Greenland, P, Grove, M L, Harris, S E, Hemani, G, Henneman, P, Herder, C, Horvath, S, Hou, L, Hurme, M A, Hwang, S, Jarvelin, M, Kardia, S L R, Kasela, S, Kleber, M E, Koenig, W, Kooner, J S, Kramer, H, Kronenberg, F, Kühnel, B, Lehtimäki, T, Lind, L, Liu, D, Liu, Y, Lloyd-jones, D M, Lohman, K, Lorkowski, S, Lu, A T, Marioni, R E, März, W, Mccartney, D L, Meeks, K A C, Milani, L, Mishra, P P, Nauck, M, Navas-acien, A, Nowak, C, Peters, A, Prokisch, H, Psaty, B M, Raitakari, O T, Ratliff, S M, Reiner, A P, Rosas, S E, Schöttker, B, Schwartz, J, Sedaghat, S, Smith, J A, Sotoodehnia, N, Stocker, H R, Stringhini, S, Sundström, J, Swenson, B R, Tellez-plaza, M, Van Meurs, J B J, Van Vliet-ostaptchouk, J V, Venema, A, Verweij, N, Walker, R M, Wielscher, M, Winkelmann, J, Wolffenbuttel, B H R, Zhao, W, Zheng, Y, Milani, L, Loh, M, Snieder, H, Levy, D, Waldenberger, M, Susztak, K, Köttgen, A & Teumer, A 2021, ' Meta-analyses identify DNA methylation associated with kidney function and damage ', Nature Communications, vol. 12, no. 1, 7174 . https://doi.org/10.1038/s41467-021-27234-3Test
Nature Communications 12(1), 7174 (2021). doi:10.1038/s41467-021-27234-3

مصطلحات موضوعية: Male, Epidemiology, physiopathology [Renal Insufficiency, Chronic], General Physics and Astronomy, genetics [Renal Insufficiency, Chronic], Kidney, Kidney Function Tests, genetics [Interferon Regulatory Factors], Chronic kidney disease, Urologi och njurmedicin, metabolism [Transcription Factors], Cardiac and Cardiovascular Systems, Membrane Protein, DNA methylation, Kardiologi, Multidisciplinary, metabolism [LIM Domain Proteins], genetics [Transcription Factors], LIM Domain Proteins, Middle Aged, ddc, genetics [Membrane Proteins], Interferon Regulatory Factors, Female, ddc:500, Medical Genetics, Glomerular Filtration Rate, Adult, Science, Article, General Biochemistry, Genetics and Molecular Biology, SDG 3 - Good Health and Well-being, metabolism [Renal Insufficiency, Chronic], Humans, Urology and Nephrology, physiopathology [Kidney], Medicine [Science], Renal Insufficiency, Chronic, Interferon Regulatory Factor, Medicinsk genetik, Aged, metabolism [Interferon Regulatory Factors], urogenital system, metabolism [Kidney], Membrane Proteins, General Chemistry, Translational research, 1182 Biochemistry, cell and molecular biology, CpG Islands, 3111 Biomedicine, genetics [LIM Domain Proteins], metabolism [Membrane Proteins], Transcription Factors

وصف الملف: application/pdf; fulltext

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a666ac8780ee854739b2d4005651ff27Test
https://pure.amc.nl/en/publications/metaanalyses-identify-dna-methylation-associated-with-kidney-function-and-damageTest(0b3d0490-c103-42d9-a83e-999de439d3e1).html

المؤلفون: Stefan F. Lichtenthaler, Paul Saftig, Tobias B. Huber, Lukas Heintz, Lisa Seipold, Lisa Schebsdat, Maja T. Lindenmeyer, Renate Lüllmann-Rauch, Sebastian Wetzel, Stephanie Zielinski, Oliver Kretz, Catherine Meyer-Schwesinger, Marlies Sachs, Wiebke Sachs, Julia Reichelt, Thorsten Wiech, Stephan A. Müller

المصدر: Journal of the American Society of Nephrology 32(6), 1389-1408 (2021). doi:10.1681/ASN.2020081213
J Am Soc Nephrol

مصطلحات موضوعية: 0301 basic medicine, Male, Proteomics, Nephrotic Syndrome, podocyte, physiology [Podocytes], ADAM10, glomerular disease, genetics [Amyloid Precursor Protein Secretases], Cell Communication, Podocyte, Blood Urea Nitrogen, ADAM10 Protein, genetics [ADAM10 Protein], Mice, 0302 clinical medicine, Glomerular Filtration Barrier, metabolism [Nephritis], Wnt Signaling Pathway, Cells, Cultured, pathology [Nephrotic Syndrome], Mice, Knockout, Nephritis, Chemistry, Cell adhesion molecule, Podocytes, metabolism [Podocytes], Wnt signaling pathway, pathology [Glomerular Filtration Barrier], General Medicine, Cadherins, adverse effects [Autoantibodies], metabolism [Nephrotic Syndrome], Cell biology, genetics [Membrane Proteins], medicine.anatomical_structure, Ectodomain, Nephrology, Creatinine, metabolism [ADAM10 Protein], Female, Proteases, metabolism [Cell Membrane], Adherens junction, 03 medical and health sciences, metabolism [Renal Insufficiency, Chronic], medicine, Cell Adhesion, Animals, Humans, ddc:610, Renal Insufficiency, Chronic, pathology [Podocytes], Autoantibodies, Cadherin, Cell Membrane, metabolism [Cadherins], Membrane Proteins, membranous nephropathy, metabolism [Amyloid Precursor Protein Secretases], Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, Basic Research, Tissue Array Analysis, urine [Creatinine], pathology [Nephritis], Amyloid Precursor Protein Secretases, proteinuria, Transcriptome, physiopathology [Glomerular Filtration Barrier], 030217 neurology & neurosurgery, metabolism [Membrane Proteins]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cd38702448fa14059c39567c6bc8975Test

المؤلفون: Rachelle Shafei, Albert Lladó, Benjamin Bender, Luisa Benussi, Elisabeth Wlasich, Martha S. Foiani, Isabel Santana, Christen Shoesmith, Ione O.C. Woollacott, Nick C. Fox, David L. Thomas, Jonathan D. Rohrer, Pietro Tiraboschi, Mario Masellis, Sergi Borrego-Écija, Giorgio G. Fumagalli, Ron Keren, Sandro Sorbi, Rick van Minkelen, Vesna Jelic, Ekaterina Rogaeva, Mollie Neason, Enrico Premi, Timothy Rittman, Lieke H.H. Meeter, Giacomina Rossi, Veronica Redaelli, Roberta Ghidoni, Begoña Indakoetxea, Johannes Levin, Håkan Thonberg, Rhian S Convery, Henrik Zetterberg, Gemma Lombardi, Giuseppe Di Fede, Chiara Fenoglio, Jose Bras, Daniela Galimberti, Simon Mead, Miren Zulaica, David M. Cash, Gabriel Miltenberger, Markus Otto, Simon Ducharme, Myriam Barandiaran, Katrina M. Moore, Alessandro Padovani, Thomas E. Cope, Elizabeth Finger, Maria Carmela Tartaglia, Martin N. Rossor, M. Jorge Cardoso, Sara Mitchell, Rik Vandenberghe, Pedro Rosa-Neto, John C. van Swieten, Sarah Anderl-Straub, Maria Rosário Almeida, Zigor Diaz, Robart Bartha, Maria de Arriba, Caroline V. Greaves, Philip Vandamme, Giorgio Giaccone, Adrian Danek, Miguel Tábuas-Pereira, Carolina Maruta, Roberto Gasparotti, Jennifer M. Nicholas, Martina Bocchetta, Elisa Semler, Valentina Bessi, C. Ferreira, Robert Laforce, Sandra V. Loosli, Ana Verdelho, Paola Caroppo, Jaume Olives, Giuliano Binetti, Carolin Heller, Jorge Villanua, Stefano Gazzina, Amanda Heslegrave, Alazne Gabilondo, Sandra E. Black, Y.A.L. Pijnenburg, Mikel Tainta, Carolyn Timberlake, Sónia Afonso, Matthis Synofzik, Janne M. Papma, Sebastien Ourselin, Núria Bargalló, Barbara Borroni, Ricardo Taipa, Hans-Otto Karnarth, Camilla Ferrari, David F. Tang-Wai, Diana Duro, Catharina Prix, Serge Gauthier, Sara Prioni, Carlo Wilke, Michele Veldsman, Alexandre de Mendonça, Andrea Arighi, Christopher C Butler, Raquel Sánchez-Valle, Toby Flanagan, Carole H. Sudre, Jason D. Warren, Rita Guerreiro, Linn Öijerstedt, Beatriz Santiago, Rosa Rademakers, Miguel Castelo-Branco, Fabrizio Tagliavini, Maria João Leitão, Anna Antonell, Mathieu Vandenbulcke, Rose Bruffaerts, Jessica L. Panman, Alexander Gerhard, Tobias Hoegen, Ana Gorostidi, Silvana Archetti, James B. Rowe, Michela Pievani, Elio Scarpini, Giovanni B. Frisoni, Benedetta Nacmias, Sonja Schönecker, Maura Cosseddu, Christin Andersson, Caroline Graff, Morris Freedman, Fermin Moreno, Mircea Balasa, Lize C. Jiskoot

المساهمون: Sudre, Carole H [0000-0001-5753-428X], Apollo - University of Cambridge Repository, Rowe, James [0000-0001-7216-8679], Neurology

المصدر: NeuroImage : Clinical
NeuroImage: Clinical, Vol. 24 (2019) P. 102077
NeuroImage: Clinical, 24:102077. Elsevier
NeuroImage: Clinical 24, 102077-(2019). doi:10.1016/j.nicl.2019.102077
NeuroImage: Clinical, Vol 24, Iss, Pp-(2019)

مصطلحات موضوعية: Oncology, Male, SEGMENTATION, PROTEIN, physiopathology [Frontotemporal Dementia], DISEASE, 0302 clinical medicine, White matter hyperintensities, blood [Glial Fibrillary Acidic Protein], Longitudinal Studies, education.field_of_study, Regular Article, Neurology, Frontotemporal Dementia, Disease Progression, GRN, medicine.medical_specialty, lcsh:Computer applications to medicine. Medical informatics, MRI, Magnetic Resonance Imaging, White matter, 03 medical and health sciences, AGE, Humans, neurofilament protein L, education, Aged, CSF, Cerebrospinal fluid, Science & Technology, Trail Making Test, Frontotemporal dementia, Dementia, Progranulin, medicine.disease, POLYMORPHISM, Case-Control Studies, Asymptomatic Diseases, Mutation, Neurosciences & Neurology, Neurology (clinical), GENFI, 030217 neurology & neurosurgery, Executive dysfunction, blood [Frontotemporal Dementia], GFAP, Glial Fibrillary Acidic Protein, blood [Neurofilament Proteins], lcsh:RC346-429, genetics [Progranulins], Executive Function, Progranulins, pathology [Gray Matter], Neurofilament Proteins, BRAIN ATROPHY, GM, Grey Matter, Gray Matter, genetics [Frontotemporal Dementia], genetics [Nerve Tissue Proteins], 05 social sciences, Organ Size, Middle Aged, Magnetic Resonance Imaging, White Matter, genetics [Membrane Proteins], medicine.anatomical_structure, FTD, Frontotemporal dementia, GENFI, GENetic Frontotemporal dementia Initiative, lcsh:R858-859.7, Female, Life Sciences & Biomedicine, Adult, Heterozygote, Cognitive Neuroscience, Population, Prodromal Symptoms, Neuroimaging, PHENOTYPES, Nerve Tissue Proteins, MUTATION CARRIERS, WM, White Matter, Grey matter, diagnostic imaging [Frontotemporal Dementia], 050105 experimental psychology, diagnostic imaging [White Matter], Atrophy, TMEM106B protein, human, Internal medicine, mental disorders, Glial Fibrillary Acidic Protein, medicine, 0501 psychology and cognitive sciences, Radiology, Nuclear Medicine and imaging, ddc:610, lcsh:Neurology. Diseases of the nervous system, business.industry, GFAP protein, human, WMH, White Matter Hyperintensity, diagnostic imaging [Gray Matter], Membrane Proteins, Hyperintensity, GRN, Progranulin, TMEM106B, ddc:618.97, GRN protein, human, business

وصف الملف: application/pdf; Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afca27b8baf2e0e1c1a1dd3020431e43Test
http://europepmc.org/articles/PMC6911860Test

المؤلفون: Larissa Haertle, Cécile Cieuta-Walti, Tobias Müller, André Mégarbané, Per Hoffmann, Steffi G. Riedel-Heller, Daniel L. A. van de Hove, Thomas Haaf, Nady El Hajj, Marcus Dittrich, Michael Wagner, Sophie Durand, Renzo J. M. Riemens, Mathilde Roche, Roy Lardenoije, Clotilde Mircher, Anna Maierhofer, Aimé Ravel, Martin Scherer, Alfredo Ramirez, Markus Leber, Samantha Stora

المساهمون: Psychiatrie & Neuropsychologie, RS: MHeNs - R2 - Mental Health, RS: MHeNs - R3 - Neuroscience, Promovendi MHN

المصدر: Clinical Epigenetics
Clinical epigenetics 11(1), 195 (2019). doi:10.1186/s13148-019-0787-x
Clinical epigenetics, 11(1):195. BioMed Central Ltd

مصطلحات موضوعية: Oncology, Epigenomics, Male, Trisomy 21, Down syndrome, Intellectual disability, genetics [Amyloid Precursor Protein Secretases], CHILDREN, genetics [Alzheimer Disease], Epigenesis, Genetic, genetics [ADAM10 Protein], ADAM10 Protein, Infinium Methylation EPIC arrays, 0302 clinical medicine, Cognition, Germany, methods [Epigenomics], Senile plaques, DOWN-SYNDROME, Longitudinal Studies, Prospective Studies, Cognitive decline, Genetics (clinical), 0303 health sciences, DNA methylation, DEMENTIA, diagnosis [Alzheimer Disease], Alzheimer's disease, Alzheimer’s disease, Cognitive function, Trisomy, genetics [Membrane Proteins], Female, Adult, medicine.medical_specialty, IMMUNITY, 03 medical and health sciences, Young Adult, Alzheimer Disease, Internal medicine, Genetics, medicine, genetics [Down Syndrome], Dementia, Humans, Epigenetics, ddc:610, GENOME-WIDE ASSOCIATION, Molecular Biology, METAANALYSIS, 030304 developmental biology, RECEPTOR, business.industry, Research, Membrane Proteins, DNA Methylation, medicine.disease, Differentially methylated regions, Early Diagnosis, Amyloid Precursor Protein Secretases, business, 030217 neurology & neurosurgery, EPIGENETIC DYSREGULATION, Developmental Biology, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a2527d41481b05af1b4de175eeb3387Test
https://pubmed.ncbi.nlm.nih.gov/31843015Test

المؤلفون: Kloth, Katja, Synofzik, Matthis, Kernstock, Christoph, Schimpf-Linzenbold, Simone, Schuettauf, Frank, Neu, Axel, Wissinger, Bernd, Weisschuh, Nicole

المصدر: BMC medical genetics 20(1), 62 (2019). doi:10.1186/s12881-019-0795-x
BMC Medical Genetics
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Male, lcsh:Internal medicine, lcsh:QH426-470, Adolescent, TMEM126A protein, human, Autosomal recessive, Membrane Proteins, Case Report, Genes, Recessive, TMEM126A, genetics [Optic Atrophy], lcsh:Genetics, Optic Atrophy, genetics [Membrane Proteins], Young Adult, Codon, Nonsense, Humans, Female, ddc:610, lcsh:RC31-1245

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7e9fc5d0278cc695f1777af48a5d036dTest
https://pub.dzne.de/record/140640Test

المؤلفون: Sonja W. Scholz, Pentti J. Tienari, Dena G. Hernandez, Elisabet Londos, Alberto Lleó, Imelda Barber, Jose Bras, Owen A. Ross, Tanis J. Ferman, Tatiana Orme, Juan C. Troncoso, Andrew B. Singleton, John D. Eicher, John Hardy, Karen Marder, Tammaryn Lashley, Douglas Galasko, Liisa Myllykangas, Ted M. Dawson, Eliezer Masliah, David M. A. Mann, Ekaterina Rogaeva, Stuart Pickering-Brown, Monica Diez-Fairen, Claire Troakes, Peter St George-Hyslop, Nigel J. Cairns, Dennis W. Dickson, Lee Darwent, Thomas G. Beach, David J. Stone, Olga Pletnikova, Glenda M. Halliday, Jordi Clarimón, John Q. Trojanowski, Anne Braae, Claire E. Shepherd, Pau Pastor, Geidy E. Serrano, Susana Carmona, Minna Oinas, Andrew J. Lees, Afina W. Lemstra, Miquel Aguilar, Laura Parkkinen, Rita Guerreiro, Estrella Morenas-Rodríguez, Janice L. Holton, Olaf Ansorge, Tamas Revesz, Vivianna M. Van Deerlin, Neill R. Graff-Radford, Safa Al-Sarraj, Kristelle Brown, Valentina Escott-Price, Suzanne Lesage, Lawrence S. Honig, Celia Kun-Rodrigues, John C. Morris, Ronald C. Petersen, Henrik Zetterberg, Kevin Morgan, Brad F. Boeve, Lorraine N. Clark, Isabel Santana, Yaroslau Compta, Liana S. Rosenthal, Michael G. Heckman

المساهمون: Neurology, Amsterdam Neuroscience - Neurodegeneration, Department of Neurosciences, Research Programme for Molecular Neurology, Pentti Tienari / Principal Investigator, Neurologian yksikkö, Research Programs Unit, Clinicum, Department of Pathology, Liisa Tellervo Myllykangas / Principal Investigator, Medicum, Neurokirurgian yksikkö, HUS Neurocenter

المصدر: Kun-Rodrigues, C, Orme, T, Carmona, S, Hernandez, D G, Ross, O A, Eicher, J D, Shepherd, C, Parkkinen, L, Darwent, L, Heckman, M G, Scholz, S W, Troncoso, J C, Pletnikova, O, Dawson, T, Rosenthal, L, Ansorge, O, Clarimon, J, Lleo, A, Morenas-Rodriguez, E, Clark, L, Honig, L S, Marder, K, Lemstra, A, Rogaeva, E, St. George-Hyslop, P, Londos, E, Zetterberg, H, Barber, I, Braae, A, Brown, K, Morgan, K, Troakes, C, Al-Sarraj, S, Lashley, T, Holton, J, Compta, Y, van Deerlin, V, Serrano, G E, Beach, T G, Lesage, S, Galasko, D, Masliah, E, Santana, I, Pastor, P, Diez-Fairen, M, Aguilar, M, Tienari, P J, Myllykangas, L, Oinas, M, Revesz, T, Lees, A, Boeve, B F, Petersen, R C, Ferman, T J, Escott-Price, V, Graff-Radford, N, Cairns, N J, Morris, J C, Pickering-Brown, S, Mann, D, Halliday, G M, Hardy, J, Trojanowski, J Q, Dickson, D W, Singleton, A, Stone, D J, Guerreiro, R & Bras, J 2019, ' A comprehensive screening of copy number variability in dementia with Lewy bodies ', Neurobiology of Aging, vol. 75, pp. 223.e1-223.e10 . https://doi.org/10.1016/j.neurobiolaging.2018.10.019Test
Neurobiology of aging 75, 223.e1-223.e10 (2019). doi:10.1016/j.neurobiolaging.2018.10.019
Neurobiology of Aging, 75, 223.e1-223.e10. Elsevier Inc.
NEUROBIOLOGY OF AGING
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: 0301 basic medicine, Male, Aging, Candidate gene, ALPHA-SYNUCLEIN, Dementia with Lewy bodies, Genome-wide association study, Variações do Número de Cópias de DNA, 3124 Neurology and psychiatry, 0302 clinical medicine, RARE, genetics [Lewy Body Disease], genetics [Adaptor Proteins, Signal Transducing], PURINE METABOLISM, MAPT GENE, MAPT, GLUCOCEREBROSIDASE MUTATIONS, Genome-wide, Copy-number variation, genetics [Genetic Predisposition to Disease], SNAPSHOT GENETICS, SYNUCLEIN GENE DUPLICATION, Aged, 80 and over, Oncogene Proteins, Genome, General Neuroscience, 3. Good health, ALZHEIMERS-DISEASE, genetics [Membrane Proteins], genetics [Polymorphism, Single Nucleotide], Medical genetics, Female, Lewy Body Disease, medicine.medical_specialty, Doença por Corpos de Lewy, DNA Copy Number Variations, genetics [DNA Copy Number Variations], Computational biology, Biology, Polymorphism, Single Nucleotide, behavioral disciplines and activities, Article, 03 medical and health sciences, mental disorders, medicine, Humans, Genetic Predisposition to Disease, ddc:610, Genetic variability, GENOME-WIDE ASSOCIATION, Genotyping, PARKINSON-DISEASE, Genetic association, Adaptor Proteins, Signal Transducing, Copy number variants, Membrane Proteins, genetics [Oncogene Proteins], medicine.disease, nervous system diseases, Proteínas Oncogénicas, 030104 developmental biology, SNCA, Neurology (clinical), Geriatrics and Gerontology, Predisposição Genética para Doença, 030217 neurology & neurosurgery, Developmental Biology, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fe78b5077a5e0a2df60bae68e7079cbTest
https://hdl.handle.net/10400.4/2247Test

المؤلفون: Per Johansson, Amanda Heslegrave, Marc Suárez-Calvet, Robert J. Mikesell, Fabia Filipello, Michael Ewers, Yuetiva Deming, Jordi Clarimón, Alberto Lleó, Estrella Morenas-Rodríguez, Umber Dube, Claudia Cantoni, Carlos Cruchaga, Kaj Blennow, Joseph Bradley, Jose Luis Molinuevo, Fabiana Geraldo Farias, Jorge L. Del-Aguila, Celeste M. Karch, Laura Piccio, Laura Ibanez, Daniel Alcolea, Henrik Zetterberg, Francesca Cignarella, Lorena Rami, Bengt Nellgård, John P. Budde, Tom J. Brett, Maria Victoria Fernandez, Christian Haass, Simon Hsu, Zeran Li, Oscar Harari, Bruno A. Benitez, Gernot Kleinberger, Johan Svensson

المصدر: Science Translational Medicine
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Science translational medicine 11(505), eaau2291 (2019). doi:10.1126/scitranslmed.aau2291

مصطلحات موضوعية: Male, genetics [Alzheimer Disease], Genome-wide association study, Disease, Biology, Pathogenesis, genetics [Membrane Glycoproteins], Meta-Analysis as Topic, Gene cluster, medicine, Humans, genetics [Receptors, Immunologic], Gene silencing, Gene, Microglia, TREM2, General Medicine, cerebrospinal fluid [Alzheimer Disease], genetics [Membrane Proteins], medicine.anatomical_structure, Immunology, metabolism [Macrophages], cerebrospinal fluid [Membrane Proteins], Female, ddc:500, genetics [Multigene Family], cerebrospinal fluid [Membrane Glycoproteins], Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ace09c8194d0d4e2873ce9cd7b69494Test
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=2514Test

المؤلفون: Thomas Ulas, Jörg Hamann, Cheng-Chih Hsiao, Joachim L. Schultze, Mark R. Mizee, Karianne G. Schuurman, Suzanne S. M. Miedema, Boy Helder, Adelia, Inge Huitinga, Sander W. Tas, Marlijn van der Poel

المساهمون: Netherlands Institute for Neuroscience (NIN), AII - Inflammatory diseases, Graduate School, Experimental Immunology, Clinical Immunology and Rheumatology

المصدر: Nature Communications
Nature Communications 10(1), 1139 (2019). doi:10.1038/s41467-019-08976-7
Nature Communications, 10:1139. Nature Publishing Group
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Nature communications, 10(1). Nature Publishing Group

مصطلحات موضوعية: 0301 basic medicine, Male, Purinergic P2Y12/genetics, Glycolysis/genetics, metabolism [Receptors, G-Protein-Coupled], metabolism [White Matter], General Physics and Astronomy, metabolism [Gray Matter], 02 engineering and technology, Sequence Analysis, RNA/methods, metabolism [Microglia], Receptors, G-Protein-Coupled, Transcriptome, pathology [Gray Matter], genetics [Receptors, Purinergic P2Y12], pathology [White Matter], Gene expression, Receptors, 80 and over, Gray Matter, lcsh:Science, skin and connective tissue diseases, genetics [Glycolysis], metabolism [Iron], Regulation of gene expression, Aged, 80 and over, Multidisciplinary, Microglia, Metabolic Networks and Pathways/genetics, pathology [Microglia], ADGRG1 protein, human, pathology [Multiple Sclerosis], Middle Aged, 021001 nanoscience & nanotechnology, Magnetic Resonance Imaging, White Matter, Receptors, Purinergic P2Y12, Cell biology, genetics [Metabolic Networks and Pathways], genetics [Membrane Proteins], medicine.anatomical_structure, Female, ddc:500, 0210 nano-technology, RNA/methods, Sequence Analysis, Glycolysis, Metabolic Networks and Pathways, Tmem119 protein, human, Multiple Sclerosis, Science, Gray Matter/metabolism, Iron, Grey matter, Biology, Receptors, Purinergic P2Y12/genetics, General Biochemistry, Genetics and Molecular Biology, metabolism [Receptors, Purinergic P2Y12], Article, White matter, Microglia/metabolism, 03 medical and health sciences, medicine, White Matter/metabolism, Humans, Membrane Proteins/genetics, G-Protein-Coupled/genetics, methods [Sequence Analysis, RNA], Aged, genetics [Receptors, G-Protein-Coupled], Sequence Analysis, RNA, Multiple sclerosis, Gene Expression Profiling, genetics [Multiple Sclerosis], Membrane Proteins, General Chemistry, medicine.disease, 030104 developmental biology, GPR56, Gene Expression Regulation, Case-Control Studies, Multiple Sclerosis/genetics, lcsh:Q, P2RY12 protein, human, sense organs, Gene Expression Profiling/methods, Receptors, G-Protein-Coupled/genetics, Iron/metabolism, metabolism [Membrane Proteins], methods [Gene Expression Profiling]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca80112a31c0c1a26e0ca851188f89cdTest
https://pubmed.ncbi.nlm.nih.gov/30867424Test

المؤلفون: Newton, Timothy, Allison, Rachel, Schüle, Rebecca, Depienne, Christel, Goldberg, Lisa, Frahm, Christiane, Stevanin, Giovanni, Durr, Alexandra, Schöls, Ludger, Winner, Beate, Beetz, Christian, Reid, Evan, Edgar, James R, Lumb, Jennifer H, Rodger, Catherine E, Manna, Paul T, Rizo, Tania, Kohl, Zacharias, Nygren, Anders O H, Arning, Larissa

المساهمون: Edgar, James [0000-0001-7903-8199], Manna, Paul [0000-0002-2260-2075], Reid, Evan [0000-0003-1623-7304], Apollo - University of Cambridge Repository

المصدر: Brain
Brain 141(5), 1286-1299 (2018). doi:10.1093/brain/awy034

مصطلحات موضوعية: Male, epistasis, metabolism [CD8 Antigens], Spastin, RBBP5 protein, human, genetics [CD8 Antigens], metabolism [Lysosomes], endosomal tubule fission, Guanine Nucleotide Exchange Factors, metabolism [Transcription Factors], ARFGEF1 protein, human, ASH2L protein, human, Age of Onset, histone methyltransferase, Nuclear Proteins, genetics [Nuclear Proteins], ultrastructure [HeLa Cells], genetics [Transcription Factors], Middle Aged, genetics [Guanine Nucleotide Exchange Factors], DNA-Binding Proteins, genetics [Membrane Proteins], Protein Transport, axonopathy, GOLPH3 protein, human, DPY30 protein, human, genetics [Protein Transport], lysosome, genetics [Spastin], Female, metabolism [DNA-Binding Proteins], metabolism [Nuclear Proteins], Adult, metabolism [Guanine Nucleotide Exchange Factors], CD8 Antigens, genetics [DNA-Binding Proteins], genetics [Mutation], Lysosomal-Associated Membrane Protein 1, genetics [Spastic Paraplegia, Hereditary], SPAST protein, human, Humans, ddc:610, metabolism [HeLa Cells], Spastic Paraplegia, Hereditary, metabolism [Lysosomal-Associated Membrane Protein 1], Membrane Proteins, Epistasis, Genetic, ultrastructure [Lysosomes], Original Articles, nervous system diseases, ultrastructure [Lysosomal-Associated Membrane Protein 1], ultrastructure [Nuclear Proteins], Mutation, genetics [Epistasis, Genetic], Lysosomes, metabolism [Membrane Proteins], HeLa Cells, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d2f58674556c2f1343945f1db8f441fTest
https://pubmed.ncbi.nlm.nih.gov/29481671Test

المؤلفون: Antonio Barrientos, Kristen L. Sund, Julia E. Dallman, Adriana P. Rebelo, Stephan Züchner, Zubair M. Ahmed, Xinjian Wang, Claudia Zanna, Andrea H. Németh, Leonardo Caporali, Carlos E. Prada, Neville Patel, Ion J. Campeanu, Feifei Tao, Susan M. Downes, Laura Krueger, Alessandra Maresca, Cynthia A. Prows, Anthony Antonellis, Saskia Groenewald, Lisa Abreu, Fiorella Speziani, Alleene V. Strickland, Yaping Yang, Michael A. Gonzalez, Taosheng Huang, Elizabeth K. Schorry, Valerio Carelli, Chiara La Morgia, Rebecca Schüle, Flavia Fontanesi, Laurie B. Griffin, Alexander J. Abrams, Robert B. Hufnagel, Jeffery Prince, Rocco Liguori, Raffaele Lodi, Omar A. Abdul-Rahman, Holly H. Zimmerman, Yanyan Peng

المساهمون: Abrams, A.J., Hufnagel, R.B., Rebelo, A., Zanna, C., Patel, N., Gonzalez, M.A., Campeanu, I.J., Griffin, L.B., Groenewald, S., Strickland, A.V., Tao, F., Speziani, F., Abreu, L., Schule, R., Caporali, L., La Morgia, C., Maresca, A., Liguori, R., Lodi, R., Ahmed, Z.M., Sund, K.L., Wang, X., Krueger, L.A., Peng, Y., Prada, C.E., Prows, C.A., Schorry, E.K., Antonellis, A., Zimmerman, H.H., Abdul-Rahman, O.A., Yang, Y., Downes, S.M., Prince, J., Fontanesi, F., Barrientos, A., Nemeth, A.H., Carelli, V., Huang, T., Zuchner, S., Dallman, J.E.

المصدر: Europe PubMed Central
Nature genetics 47(8), 926-932 (2015). doi:10.1038/ng.3354
Nature genetics

مصطلحات موضوعية: Male, Embryo, Nonmammalian, MFN2, Muscle Proteins, IMMT protein, human, DOA, genetics [Muscle Proteins], medicine.disease_cause, Animals, Genetically Modified, pathology [Optic Atrophy, Autosomal Dominant], metabolism [Optic Atrophy, Autosomal Dominant], 0302 clinical medicine, Charcot-Marie-Tooth Disease, Chlorocebus aethiops, genetics [Phosphate Transport Proteins], genetics [Exome], Phosphate Transport Proteins, Exome, metabolism [Zebrafish], genetics [Genetic Predisposition to Disease], embryology [Embryo, Nonmammalian], Zebrafish, Genetics, 0303 health sciences, Mutation, Microscopy, Confocal, biology, Pedigree, genetics [Membrane Proteins], xonal peripheral neuropathy, mitochondrial fusion, Mitochondrial Membranes, COS Cells, Female, genetics [Mitochondrial Proteins], RNA Interference, genetics [Charcot-Marie-Tooth Disease], Protein Binding, UGO1 protein, S cerevisiae, metabolism [Embryo, Nonmammalian], Saccharomyces cerevisiae Proteins, Dominant optic atrophy, Charcot-Marie-Tooth type 2, CMT2, metabolism [Muscle Proteins], genetics [Optic Atrophy, Autosomal Dominant], metabolism [Phosphate Transport Proteins], Article, ultrastructure [Embryo, Nonmammalian], metabolism [Mitochondrial Proteins], Mitochondrial Proteins, 03 medical and health sciences, Atrophy, Microscopy, Electron, Transmission, ddc:570, Optic Atrophy, Autosomal Dominant, metabolism [Mitochondrial Membranes], medicine, Animals, Humans, Inner membrane, Genetic Predisposition to Disease, Hereditary Neurodegenerative Disorder, genetics [Saccharomyces cerevisiae Proteins], 030304 developmental biology, Membrane Proteins, Sequence Analysis, DNA, metabolism [Saccharomyces cerevisiae Proteins], biology.organism_classification, medicine.disease, eye diseases, HEK293 Cells, metabolism [Charcot-Marie-Tooth Disease], Membrane protein, embryology [Zebrafish], hereditary neurodegenerative disorder, metabolism [Membrane Proteins], 030217 neurology & neurosurgery, SLC25A46 protein, human

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c99761b28161ae30b9a283860a0ba15Test
https://doi.org/10.1038/ng.3354Test