-
1دورية أكاديمية
المؤلفون: Németh, Andrea, Antoniades, Chrystalina, Dukart, Juergen, Minnerop, Martina, Rentz, Clara, Schuman, Bart-Jan, van de Warrenburg, Bart, Willemse, Ilse, Bertini, Enrico, Gupta, Anoopum, de Mello Monteiro, Carlos, Almoajil, Hajar, Quinn, Lori, Horak, Fay, Ilg, Winfried, Traschütz, Andreas, Vogel, Adam, Dawes, Helen, Perlman, Susan
المصدر: Cerebellum. 23(3)
مصطلحات موضوعية: Ataxia, Digital motor performance outcome measures, Internal smartphone Sensors, Humans, Smartphone, Consensus, Delphi Technique, Ataxia, Biomarkers, Clinical Trials as Topic
وصف الملف: application/pdf
-
2دورية أكاديمية
المؤلفون: Rezende, Thiago Junqueira Ribeiro, Adanyaguh, Isaac, Barsottini, Orlando G P, Bender, Benjamin, Cendes, Fernando, Coutinho, Leo, Deistung, Andreas, Dogan, Imis, Durr, Alexandra, Fernandez-Ruiz, Juan, Göricke, Sophia L, Grisoli, Marina, Hernandez-Castillo, Carlos R, Lenglet, Christophe, Mariotti, Caterina, Martinez, Alberto R M, Massuyama, Breno K, Mochel, Fanny, Nanetti, Lorenzo, Nigri, Anna, Ono, Sergio E, Öz, Gülin, Pedroso, JoséLuiz, Reetz, Kathrin, Synofzik, Matthis, Teive, Helio, Thomopoulos, Sophia I, Thompson, Paul M, Timmann, Dagmar, van de Warrenburg, Bart P C, van Gaalen, Judith, Franca, Marcondes C, Harding, Ian H
مصطلحات موضوعية: Neurogenetics
وصف الملف: text/html
العلاقة: http://jnnp.bmj.com/cgi/content/short/95/7/682Test; http://dx.doi.org/10.1136/jnnp-2023-332696Test
الإتاحة: https://doi.org/10.1136/jnnp-2023-332696Test
http://jnnp.bmj.com/cgi/content/short/95/7/682Test -
3دورية أكاديمية
المؤلفون: Raposo, Mafalda, Hübener-Schmid, Jeannette, Tagett, Rebecca, Ferreira, Ana F., Vieira Melo, Ana Rosa, Vasconcelos, Joao, Pires, Paula, Kay, Teresa, García-Moreno, Héctor, Giunti, Paola, Santana, Magda M., Pereira de Almeida, Luis, Infante Ceberio, Jon, Van de Warrenburg, Bart P., De Vries, Jeroen J., Faber, Jennifer, Klockgether, Thomas, Casadei, Nicolas, Admard, Jakob
المساهمون: Universidad de Cantabria
المصدر: Neurobiology of Disease, 2024, 193, 106456
مصطلحات موضوعية: Ataxin-3, PolyQ diseases, Neurodegenerative disease, RNA-seq
-
4دورية أكاديمية
المؤلفون: Faber, Jennifer, Berger, Moritz, Wilke, Carlo, Hubener-Schmid, Jeannette, Schaprian, Tamara, Santana, Magda M., Grobe-Einsler, Marcus, Onder, Demet, Koyak, Berkan, Giunti, Paola, Garcia-Moreno, Hector, Gonzalez-Robles, Cristina, Lima, Manuela, Raposo, Mafalda, Melo, Ana Rosa Vieira, de Almeida, Luís Pereira, Silva, Patrick, Pinto, Maria M., van de Warrenburg, Bart P., van Gaalen, Judith, de Vries, Jeroen, Oz, Gulin, Joers, James M., Synofzik, Matthis, Schols, Ludger, Riess, Olaf, Infante, Jon, Manrique, Leire, Timmann, Dagmar, Thieme, Andreas, Jacobi, Heike, Reetz, Kathrin, Dogan, Imis, Onyike, Chiadikaobi, Povazan, Michal, Schmahmann, Jeremy, Ratai, Eva Maria, Schmid, Matthias, Klockgether, Thomas
المصدر: Faber , J , Berger , M , Wilke , C , Hubener-Schmid , J , Schaprian , T , Santana , M M , Grobe-Einsler , M , Onder , D , Koyak , B , Giunti , P , Garcia-Moreno , H , Gonzalez-Robles , C , Lima , M , Raposo , M , Melo , A R V , de Almeida , L P , Silva , P , Pinto , M M , van de Warrenburg , B P , van Gaalen , J , de Vries , J , Oz , G , ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1002/ana.26824Test
https://hdl.handle.net/11370/17b27aa6-f51b-4bb2-b218-3cfbb62b1016Test
https://research.rug.nl/en/publications/17b27aa6-f51b-4bb2-b218-3cfbb62b1016Test
https://pure.rug.nl/ws/files/915436917/Annals_of_Neurology_-_2023_-_Faber_-_Stage_Dependent_Biomarker_Changes_in_Spinocerebellar_Ataxia_Type_3.pdfTest
http://www.scopus.com/inward/record.url?scp=85178451484&partnerID=8YFLogxKTest -
5دورية أكاديمية
المؤلفون: Hengel, Holger, Martus, Peter, Faber, Jennifer, Giunti, Paola, Garcia-Moreno, Hector, Solanky, Nita, Klockgether, Thomas, Reetz, Kathrin, van de Warrenburg, Bart P., Santana, Magda M., Silva, Patrick, Cunha, Inês, de Almeida, Luís Pereira, Timmann, Dagmar, Infante, Jon, de Vries, Jeroen, Lima, Manuela, Pires, Paula, Bushara, Khalaf, Jacobi, Heike, Onyike, Chiadi, Schmahmann, Jeremy D., Hübener-Schmid, Jeannette, Synofzik, Matthis, Schöls, Ludger
المصدر: European Spinocerebellar Ataxia Type-3/Machado-Joseph Disease Initiative (ESMI) Study Group , Hengel , H , Martus , P , Faber , J , Giunti , P , Garcia-Moreno , H , Solanky , N , Klockgether , T , Reetz , K , van de Warrenburg , B P , Santana , M M , Silva , P , Cunha , I , de Almeida , L P , Timmann , D , Infante , J , de Vries , J , Lima , M , Pires , P , Bushara , K , Jacobi , H , Onyike , ....
الإتاحة: https://doi.org/10.1007/s00415-023-12064-8Test
https://doi.org/10.1007/s00415-022-11441-zTest
https://hdl.handle.net/11370/269f7dbc-ac72-42bf-bc70-00df1ee47b85Test
https://research.rug.nl/en/publications/269f7dbc-ac72-42bf-bc70-00df1ee47b85Test
http://www.scopus.com/inward/record.url?scp=85177469766&partnerID=8YFLogxKTest -
6دورية أكاديمية
المؤلفون: Iwaki, Hirotaka, Blauwendraat, Cornelis, Leonard, Hampton, L, Liu, Ganqiang, Maple-Grødem, Jodi, Corvol, Jean-Christophe, Pihlstrøm, Lasse, van Nimwegen, Marlies, Hutten, Samantha, J, Nguyen, Khanh-Dung H, Rick, Jacqueline, Eberly, Shirley, Faghri, Faraz, Auinger, Peggy, Scott, Kirsten, M, Wijeyekoon, Ruwani, van Deerlin, Vivianna, M, Hernandez, Dena, G, Day-Williams, Aaron, G, Brice, Alexis, Alves, Guido, Noyce, Alastair, J, Tysnes, Ole-Bjørn, Evans, Jonathan, R, Breen, David, P, Estrada, Karol, Wegel, Claire, E, Danjou, Fabrice, Simon, David, K, Ravina, Bernard, Toft, Mathias, Heutink, Peter, Bloem, Bastiaan, R, Weintraub, Daniel, Barker, Roger, A, Williams-Gray, Caroline, H, van de Warrenburg, Bart, P, van Hilten, Jacobus, J, Scherzer, Clemens, R, Singleton, Andrew, B, Nalls, Mike, A
المساهمون: National Institutes of Health Bethesda, MD, USA (NIH), Harvard Medical School Boston (HMS), Stavanger University Hospital, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Oslo University Hospital Oslo, Radboud University Medical Center Nijmegen, The Michael J Fox Foundation for Parkinson's Research, University of Pennsylvania, University of Rochester USA, University of Cambridge UK (CAM), Queen Mary University of London (QMUL), University of Bergen (UiB), Nottingham University Hospitals NHS Trust (NUH), University of Edinburgh (Edin.), Beth Israel Deaconess Medical Center Boston (BIDMC), Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University
المصدر: EISSN: 2376-7839 ; Neurology Genetics ; https://hal.sorbonne-universite.fr/hal-04513221Test ; Neurology Genetics, 2024, 5, ⟨10.1212/nxg.0000000000000348⟩
مصطلحات موضوعية: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31404238; hal-04513221; https://hal.sorbonne-universite.fr/hal-04513221Test; https://hal.sorbonne-universite.fr/hal-04513221/documentTest; https://hal.sorbonne-universite.fr/hal-04513221/file/NXG.0000000000000348.pdfTest; PUBMED: 31404238; PUBMEDCENTRAL: PMC6659137
الإتاحة: https://doi.org/10.1212/nxg.0000000000000348Test
https://hal.sorbonne-universite.fr/hal-04513221Test
https://hal.sorbonne-universite.fr/hal-04513221/documentTest
https://hal.sorbonne-universite.fr/hal-04513221/file/NXG.0000000000000348.pdfTest -
7دورية أكاديمية
المؤلفون: Weber, Niklas, Buchholz, Maresa, Rädke, Anika, Faber, Jennifer, Schmitz-Hübsch, Tanja, Jacobi, Heike, Klockgether, Thomas, Hoffmann, Wolfgang, Michalowsky, Bernhard, du Montcel, Sophie Tezenas, Bauer, Peter, Giunti, Paola, Cook, Arron, Labrum, Robyn, Parkinson, Michael H., Durr, Alexandra, Brice, Alexis, Charles, Perrine, Marelli, Cecilia, Mariotti, Caterina, Nanetti, Lorenzo, Panzeri, Marta, Rakowicz, Maria, Sulek, Anna, Sobanska, Anna, Schöls, Ludger, Hengel, Holger, Baliko, Laszlo, Melegh, Bela, Filla, Alessandro, Antenora, Antonella, Infante, Jon, Berciano, José, van de Warrenburg, Bart P., Timmann, Dagmar, Szymanski, Sandra, Boesch, Sylvia, Kang, Jun-Suk, Pandolfo, Massimo, Schulz, Jörg B., Molho, Sonia, Diallo, Alhassane, Hübener-Schmid, Jeanette, Santana, Magda, Grobe-Einsler, Marcus, Koyak, Berkan, Raposo, Mafalda, Lima, Manuela, Garcia-Moreno, Hector
المساهمون: Deutsches Zentrum für Neurodegenerative Erkrankungen e.V. (DZNE) in der Helmholtz-Gemeinschaft
المصدر: The Cerebellum ; ISSN 1473-4230
مصطلحات موضوعية: Neurology (clinical), Neurology
-
8دورية أكاديمية
المؤلفون: van de Warrenburg, Bart P., Kamsteeg, Erik-Jan
المصدر: eBioMedicine ; volume 100, page 104994 ; ISSN 2352-3964
مصطلحات موضوعية: General Biochemistry, Genetics and Molecular Biology, General Medicine
الإتاحة: https://doi.org/10.1016/j.ebiom.2024.104994Test
https://api.elsevier.com/content/article/PII:S235239642400029X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S235239642400029X?httpAccept=text/plainTest -
9دورية أكاديمية
المؤلفون: Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary JH, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita
المصدر: Brain. 144(5)
مصطلحات موضوعية: Neurosciences, Neurodegenerative, Genetics, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Female, Humans, Male, Mice, Mutation, Oxygenases, Pedigree, Rats, Spastic Paraplegia, Hereditary, Zebrafish, hereditary spastic paraplegia, HSP, autosomal recessive, mitochondrial disorder, HPDL, Genomics England Research Consortium, PREPARE network, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/3zq3c14vTest
-
10دورية أكاديمية
المؤلفون: Sugier, Pierre-Emmanuel, Lucotte, Elise A, Domenighetti, Cloé, Law, Matthew H, Iles, Mark M, Brown, Kevin, Amos, Christopher, McKay, James D, Hung, Rayjean J, Karimi, Mojgan, Bacq-Daian, Delphine, Boland-Augé, Anne, Olaso, Robert, Deleuze, Jean-François, Lesueur, Fabienne, Ostroumova, Evgenia, Kesminiene, Ausrele, de Vathaire, Florent, Guénel, Pascal, Sreelatha, Ashwin Ashok Kumar, Schulte, Claudia, Grover, Sandeep, May, Patrick, Bobbili, Dheeraj R, Radivojkov-Blagojevic, Milena, Lichtner, Peter, Singleton, Andrew B, Hernandez, Dena G, Edsall, Connor, Mellick, George D, Zimprich, Alexander, Pirker, Walter, Rogaeva, Ekaterina, Lang, Anthony E, Koks, Sulev, Taba, Pille, Lesage, Suzanne, Brice, Alexis, Corvol, Jean-Christophe, Chartier-Harlin, Marie-Christine, Mutez, Eugénie, Brockmann, Kathrin, Deutschländer, Angela B, Hadjigeorgiou, Georges M, Dardiotis, Efthimios, Stefanis, Leonidas, Simitsi, Athina Maria, Valente, Enza Maria, Petrucci, Simona, Straniero, Letizia, Zecchinelli, Anna, Pezzoli, Gianni, Brighina, Laura, Ferrarese, Carlo, Annesi, Grazia, Quattrone, Andrea, Gagliardi, Monica, Matsuo, Hirotaka, Nakayama, Akiyoshi, Hattori, Nobutaka, Nishioka, Kenya, Chung, Sun Ju, Kim, Yun Joong, Kolber, Pierre, van de Warrenburg, Bart P C, Bloem, Bastiaan R, Aasly, Jan, Toft, Mathias, Pihlstrøm, Lasse, Guedes, Leonor Correia, Ferreira, Joaquim J, Bardien, Soraya, Carr, Jonathan, Tolosa, Eduardo, Ezquerra, Mario, Pastor, Pau, Diez-Fairen, Monica, Wirdefeldt, Karin, Pedersen, Nancy, Ran, Caroline, Belin, Andrea C, Puschmann, Andreas, Rödström, Emil Ygland, Clarke, Carl E, Morrison, Karen E, Tan, Manuela, Krainc, Dimitri, Burbulla, Lena F, Farrer, Matt J, Kruger, Rejko, Gasser, Thomas, Sharma, Manu, Truong, Thérèse, Elbaz, Alexis
المساهمون: Sugier, Pierre-Emmanuel, Lucotte, Elise A, Domenighetti, Cloé, Law, Matthew H, Iles, Mark M, Brown, Kevin, Amos, Christopher, Mckay, James D, Hung, Rayjean J, Karimi, Mojgan, Bacq-Daian, Delphine, Boland-Augé, Anne, Olaso, Robert, Deleuze, Jean-Françoi, Lesueur, Fabienne, Ostroumova, Evgenia, Kesminiene, Ausrele, de Vathaire, Florent, Guénel, Pascal, Sreelatha, Ashwin Ashok Kumar, Schulte, Claudia, Grover, Sandeep, May, Patrick, Bobbili, Dheeraj R, Radivojkov-Blagojevic, Milena, Lichtner, Peter, Singleton, Andrew B, Hernandez, Dena G, Edsall, Connor, Mellick, George D, Zimprich, Alexander, Pirker, Walter, Rogaeva, Ekaterina, Lang, Anthony E, Koks, Sulev, Taba, Pille, Lesage, Suzanne, Brice, Alexi, Corvol, Jean-Christophe, Chartier-Harlin, Marie-Christine, Mutez, Eugénie, Brockmann, Kathrin, Deutschländer, Angela B, Hadjigeorgiou, Georges M, Dardiotis, Efthimio, Stefanis, Leonida, Simitsi, Athina Maria, Valente, Enza Maria, Petrucci, Simona, Straniero, Letizia, Zecchinelli, Anna, Pezzoli, Gianni, Brighina, Laura, Ferrarese, Carlo, Annesi, Grazia, Quattrone, Andrea, Gagliardi, Monica, Matsuo, Hirotaka, Nakayama, Akiyoshi, Hattori, Nobutaka, Nishioka, Kenya, Chung, Sun Ju, Kim, Yun Joong, Kolber, Pierre, van de Warrenburg, Bart P C, Bloem, Bastiaan R, Aasly, Jan, Toft, Mathia, Pihlstrøm, Lasse, Guedes, Leonor Correia, Ferreira, Joaquim J, Bardien, Soraya, Carr, Jonathan, Tolosa, Eduardo, Ezquerra, Mario, Pastor, Pau, Diez-Fairen, Monica, Wirdefeldt, Karin, Pedersen, Nancy, Ran, Caroline, Belin, Andrea C, Puschmann, Andrea, Rödström, Emil Ygland, Clarke, Carl E, Morrison, Karen E, Tan, Manuela, Krainc, Dimitri, Burbulla, Lena F, Farrer, Matt J, Kruger, Rejko, Gasser, Thoma, Sharma, Manu, Truong, Thérèse, Elbaz, Alexis
مصطلحات موضوعية: parkinson's disease, cancer, genetic correlation, pleiotropy, polygenic risk score
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36788297; info:eu-repo/semantics/altIdentifier/wos/WOS:000951688400001; volume:38; issue:4; firstpage:1; lastpage:16; numberofpages:16; journal:MOVEMENT DISORDERS; https://hdl.handle.net/11573/1673492Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85148340230
النص الكامل