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

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

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adult, Age of Onset, CD8 Antigens: genetics, CD8 Antigens: metabolism, DNA-Binding Proteins: genetics, DNA-Binding Proteins: metabolism, Epistasis, Genetic: genetics, Female, Guanine Nucleotide Exchange Factors: genetics, Guanine Nucleotide Exchange Factors: metabolism, HeLa Cells: metabolism, HeLa Cells: ultrastructure, Humans, Lysosomal-Associated Membrane Protein 1: metabolism, Lysosomal-Associated Membrane Protein 1: ultrastructure, Lysosomes: metabolism, Lysosomes: ultrastructure, Male, Membrane Proteins: genetics, Membrane Proteins: metabolism, Middle Aged, Mutation: genetics, Nuclear Proteins: genetics, Nuclear Proteins: metabolism, Nuclear Proteins: ultrastructure, Protein Transport: genetics, Spastic Paraplegia, Hereditary: genetics

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/1460-2156; info:eu-repo/semantics/altIdentifier/issn/0006-8950; info:eu-repo/semantics/altIdentifier/pmid/pmid:29481671; https://pub.dzneTest.de/record/139949; https://pub.dzneTest.de/search?p=id:%22DZNE-2020-06271%22

الإتاحة: https://doi.org/10.1093/brain/awy034Test
https://pub.dzneTest.de/record/139949
https://pub.dzneTest.de/search?p=id:%22DZNE-2020-06271%22

المؤلفون: Robak, Laurie A, Jansen, Iris E, Plagnol, Vincent, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Rizzu, Patrizia, Ryten, Mina, Sawcer, Stephen, Schapira, Anthony, Scheffer, Hans, Shaw, Karen, Shoulson, Ira, Hernandez, Dena G, 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, Sharma, Manu, Tison, François, Trabzuni, Daniah, Traynor, Bryan J, Uitterlinden, André G, Velseboer, Daan, Vidailhet, Marie, Walker, Robert, van de Warrenburg, Bart, Wickremaratchi, Mirdhu, Williams, Nigel, Sheerin, Una-Marie, Williams-Gray, Caroline H, Winder-Rhodes, Sophie, Stefánsson, Kári, Martinez, Maria, Wood, Nicholas W, Hardy, John, Brice, Alexis, Gasser, Thomas, Singleton, Andrew B, Saad, Mohamad, Simón-Sánchez, Javier, Schulte, Claudia, Lesage, Suzanne, Sveinbjörnsdóttir, Sigurlaug, Arepalli, Sampath, van Rooij, Jeroen, 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, Kraaij, Robert, Clarke, Carl E, Cookson, Mark R, Mark Cooper, J., Corvol, Jean Christophe, Counsell, Carl, Damier, Philippe, Dartigues, Jean-François, Deloukas, Panos, Deuschl, Günther, Dexter, David T, Jankovic, Joseph, van Dijk, Karin D, Dillman, Allissa, Durif, Frank, Dürr, Alexandra, Edkins, Sarah, Evans, Jonathan R, Foltynie, Thomas, Dong, Jing, Gardner, Michelle, Raphael Gibbs, J., Consortium, International Parkinson’s Disease Genomics, Goate, Alison, Gray, Emma, Guerreiro, Rita, Harris, Clare, van Hilten, Jacobus J, Hofman, Albert, Hollenbeck, Albert, Holton, Janice, Hu, Michele, Huang, Xuemei, Heutink, Peter, Wurster, Isabel, Mätzler, Walter, Hudson, Gavin, Hunt, Sarah E, Huttenlocher, Johanna, Illig, Thomas, Jónsson, Pálmi V, Lambert, Jean-Charles, Langford, Cordelia, Lees, Andrew, Shulman, Joshua M, Lichtner, Peter, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, McNeill, Alisdair, Moorby, Catriona, Moore, Matthew, Morris, Huw R, Morrison, Karen E, Nalls, Mike A, Escott-Price, Valentina, Mudanohwo, Ese, O'Sullivan, Sean S, Pearson, Justin, Perlmutter, Joel S, Pétursson, Hjörvar, Pollak, Pierre, Post, Bart, Potter, Simon, Ravina, Bernard

المصدر: Brain 140(12), 3191-3203 (2017). doi:10.1093/brain/awx285

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Acid Ceramidase: genetics, Adult, Aged, 80 and over, Case-Control Studies, Cathepsin D: genetics, Cohort Studies, Exome, Female, Genetic Predisposition to Disease, Genotype, Glucosylceramidase: genetics, Humans, Lysosomal Storage Diseases: genetics, Male, Middle Aged, Mutation, Organic Anion Transporters: genetics, Parkinson Disease: genetics, Sphingomyelin Phosphodiesterase: genetics, Symporters: genetics, Organic Anion Transporters, Symporters, sialic acid transport proteins, Sphingomyelin Phosphodiesterase, sphingomyelin phosphodiesterase 1, human, Glucosylceramidase, CTSD protein

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:29140481; info:eu-repo/semantics/altIdentifier/issn/0006-8950; info:eu-repo/semantics/altIdentifier/issn/1460-2156; https://pub.dzneTest.de/record/139657; https://pub.dzneTest.de/search?p=id:%22DZNE-2020-05979%22

الإتاحة: https://doi.org/10.1093/brain/awx285Test
https://pub.dzneTest.de/record/139657
https://pub.dzneTest.de/search?p=id:%22DZNE-2020-05979%22