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المؤلفون: Robak, Laurie A., Jansen, Iris E., Rooij, Jeroen van, Uitterlinden, André G., Kraaij, Robert, Jankovic, Joseph, Heutink, Peter, Shulman, Joshua M., Nalls, Mike A., Plagnol, Vincent, Hernandez, Dena G., Sharma, Manu, Sheerin, Una Marie, Saad, Mohamad, Simón-Sánchez, Javier, Schulte, Claudia, Lesage, Suzanne, Sveinbjörnsdóttir, Sigurlaug, Arepalli, Sampath, Barker, Roger, Ben, Yoav, Berendse, Henk W., Berg, Daniela, Bhatia, Kailash, de Bie, Rob M.A., Biffi, Alessandro, Bloem, Bas, Bochdanovits, Zoltan, Bonin, Michael, Bras, Jose M., Brockmann, Kathrin, Brooks, Janet, Burn, David J., Majounie, Elisa, Charlesworth, Gavin, Lungu, Codrin, Chen, Honglei, Chinnery, Patrick F., Chong, Sean, Clarke, Carl E., Cookson, Mark R., Cooper, J. Mark, Corvol, Jean Christophe, Counsell, Carl, Damier, Philippe, Dartigues, Jean François, Deloukas, Panos, Deuschl, Günther, Dexter, David T., van Dijk, Karin D., Dillman, Allissa, Durif, Frank, Dürr, Alexandra, Edkins, Sarah, Evans, Jonathan R., Foltynie, Thomas, Dong, Jing, Gardner, Michelle, Gibbs, J. Raphael, Goate, Alison, Gray, Emma, Guerreiro, Rita, Harris, Clare, van Hilten, Jacobus J., Hofman, Albert, Hollenbeck, Albert, Holton, Janice, Hu, Michele, Huang, Xuemei, Wurster, Isabel, Mätzler, Walter, Hudson, Gavin, Hunt, Sarah E., Huttenlocher, Johanna, Illig, Thomas, Jónsson, Pálmi V., Lambert, Jean Charles, Langford, Cordelia, Lees, Andrew, Lichtner, Peter, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, McNeill, Alisdair, Moorby, Catriona, Moore, Matthew, Morris, Huw R., Morrison, Karen E., Escott-Price, Valentina, Mudanohwo, Ese, O’sullivan, Sean S., Pearson, Justin, Perlmutter, Joel S., Pétursson, Hjörvar, Pollak, Pierre, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Rizzu, Patrizia, Ryten, Mina, Sawcer, Stephen, Schapira, Anthony, Scheffer, Hans, Shaw, Karen, Shoulson, Ira, Shulman, Joshua, Sidransky, Ellen, Smith, Colin, Spencer, Chris C.A., Stefánsson, Hreinn, Bettella, Francesco, Stockton, Joanna D., Strange, Amy, Talbot, Kevin, Tanner, Carlie M., Tashakkori-Ghanbaria, Avazeh, Tison, François, Trabzuni, Daniah, Traynor, Bryan J., Velseboer, Daan, Vidailhet, Marie, Walker, Robert, Warrenburg, Bart van de, Wickremaratchi, Mirdhu, Williams, Nigel, Williams-Gray, Caroline H., Winder-Rhodes, Sophie, Stefánsson, Kári, Martinez, Maria, Wood, Nicholas W., Hardy, John, Brice, Alexis, Gasser, Thomas, Singleton, Andrew B.
المساهمون: Erasmus University Medical Center [Rotterdam] (Erasmus MC), Ctr Life Sci Technol, Div Gen Technol, Tsurumi Ku, RIKEN - Institute of Physical and Chemical Research [Japon] (RIKEN), Neurology, ANS - Neurodegeneration, ANS - Amsterdam Neuroscience, Intensive Care Medicine, ANS - Neuroinfection & -inflammation, Graduate School, ACS - Amsterdam Cardiovascular Sciences, APH - Aging & Later Life, Amsterdam Neuroscience - Neurodegeneration, Human genetics, Internal Medicine, Erasmus MC other
المصدر: Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2017, 140 (12), pp.3191-3203. ⟨10.1093/brain/awx285⟩
Brain, 140, 3191-3203
Brain, 140(12), 3191-3203. Oxford University Press
Brain, 140, 12, pp. 3191-3203
Brain : a journal of neurology, 140(12), 3191-3203
Brain, 140, 3191-3203. Oxford University Press
Brain 140(12), 3191-3203 (2017). doi:10.1093/brain/awx285
Robak, L A, Jansen, I E, van Rooij, J, Uitterlinden, A G, Kraaij, R, Jankovic, J, Heutink, P, Shulman, J M, International Parkinson’s Disease Genomics Consortium (IPDGC), IPDGC Consortium members & International Parkinson’s Disease Genomics Consortium (IPDGC) 2017, ' Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease ', Brain : a journal of neurology, vol. 140, no. 12, pp. 3191-3203 . https://doi.org/10.1093/brain/awx285Testمصطلحات موضوعية: Male, 0301 basic medicine, Parkinson's disease, Acid Ceramidase, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Organic Anion Transporters, ASAH1 protein, human, Disease, CTSD protein, human, Cathepsin D, genetics [Glucosylceramidase], whole exome sequencing, Cohort Studies, 0302 clinical medicine, genetics [Parkinson Disease], Exome, genetics, Exome sequencing, ComputingMilieux_MISCELLANEOUS, Aged, 80 and over, Genetics, Symporters, [SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, genetics [Organic Anion Transporters], Middle Aged, genetics [Lysosomal Storage Diseases], Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Control subjects, sphingomyelin phosphodiesterase 1, human, 3. Good health, sialic acid transport proteins, Sphingomyelin Phosphodiesterase, ASAH1, Glucosylceramidase, Female, Adult, Genotype, Biology, lysosomal storage disorders, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, ddc:610, Genotyping, Gene, Aged, [SCCO.NEUR]Cognitive science/Neuroscience, Original Articles, medicine.disease, genetics [Symporters], genetics [Acid Ceramidase], nervous system diseases, genetics [Cathepsin D], 030104 developmental biology, Case-Control Studies, Mutation, genetics [Sphingomyelin Phosphodiesterase], Neurology (clinical), Glucocerebrosidase, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f8219d50fc45fa0bbaee79b406a39e3Test
http://www.scopus.com/inward/record.url?scp=85038218327&partnerID=8YFLogxKTest -
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المؤلفون: Christine Van Broeckhoven, Kohji Mori, Julie van der Zee, Christian Haass, Sabina Tahirovic, Anja Capell, Julia K. Götzl, Sebastiaan Engelborghs, Thomas Arzberger, Jonathan Janssens, Gernot Kleinberger, Katrin Fellerer, Elisabeth Kremmer, Christina M. Lang, Hans A. Kretzschmar, Markus Damme, Jean-Jacques Martin
المساهمون: Clinical sciences, Neurology, Pathologic Biochemistry and Physiology
المصدر: Acta neuropathologica 127(6), NA-NA (2014). doi:10.1007/s00401-014-1262-6
Acta neuropathologicaمصطلحات موضوعية: Pathology, metabolism [Intercellular Signaling Peptides and Proteins], Cathepsin D, medicine.disease_cause, Progranulins, pathology [Brain], pathology [Neuronal Ceroid-Lipofuscinoses], Phosphorylation, Ctsd protein, mouse, Granulins, Medicine(all), Mice, Knockout, Intercellular Signaling Peptides and Proteins/deficiency, Mutation, DNA-Binding Proteins/metabolism, LAMP1, phosphorylation, genetics [Intercellular Signaling Peptides and Proteins], Neurodegeneration, TDP-43 protein, human, Brain, Frontotemporal lobar degeneration, Neuronal Ceroid-Lipofuscinoses/metabolism, Immunohistochemistry, DNA-Binding Proteins, medicine.anatomical_structure, Grn protein, mouse, deficiency [Intercellular Signaling Peptides and Proteins], Intercellular Signaling Peptides and Proteins, metabolism [DNA-Binding Proteins], medicine.medical_specialty, Immunoblotting, Biology, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, TDP-43 protein, mouse, Neuronal Ceroid-Lipofuscinoses, Lysosome, mental disorders, medicine, Brain/metabolism, Animals, Humans, ddc:610, metabolism [Neuronal Ceroid-Lipofuscinoses], pathology [Frontotemporal Lobar Degeneration], Cathepsin D/genetics, nutritional and metabolic diseases, medicine.disease, Molecular biology, nervous system diseases, metabolism [Frontotemporal Lobar Degeneration], metabolism [Cathepsin D], Disease Models, Animal, genetics [Cathepsin D], Membrane protein, metabolism [Brain], GRN protein, human, Neuronal ceroid lipofuscinosis, Neurology (clinical), Human medicine, Frontotemporal Lobar Degeneration, Frontotemporal Lobar Degeneration/metabolism
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1134ac81a0a4cc5da9e55ed4ffb277acTest