المؤلفون: Vollstedt, Eva‐juliane, Schaake, Susen, Lohmann, Katja, Padmanabhan, Shalini, Brice, Alexis, Lesage, Suzanne, Tesson, Christelle, Vidailhet, Marie, Wurster, Isabel, Hentati, Faycel, Mirelman, Anat, Giladi, Nir, Marder, Karen, Waters, Cheryl, Fahn, Stanley, Kasten, Meike, Brüggemann, Norbert, Borsche, Max, Foroud, Tatiana, Tolosa, Eduardo, Garrido, Alicia, Annesi, Grazia, Gagliardi, Monica, Bozi, Maria, Stefanis, Leonidas, Ferreira, Joaquim, J, Correia Guedes, Leonor, Avenali, Micol, Petrucci, Simona, Clark, Lorraine, Fedotova, Ekaterina, Y, Abramycheva, Natalya, Y, Alvarez, Victoria, Menéndez-González, Manuel, Jesús Maestre, Silvia, Gómez-Garre, Pilar, Mir, Pablo, Belin, Andrea Carmine, Ran, Caroline, Lin, Chin‐hsien, Kuo, Ming‐che, Crosiers, David, Wszolek, Zbigniew, K, Ross, Owen, A, Jankovic, Joseph, Nishioka, Kenya, Funayama, Manabu, Clarimon, Jordi, Williams‐gray, Caroline, H, Camacho, Marta, Cornejo‐olivas, Mario, Torres-Ramirez, Luis, Wu, Yih‐ru, Lee-Chen, Guey‐jen, Morgadinho, Ana, Pulkes, Teeratorn, Termsarasab, Pichet, Berg, Daniela, Kuhlenbäumer, Gregor, Kühn, Andrea, A, Borngräber, Friederike, de Michele, Giuseppe, de Rosa, Anna, Zimprich, Alexander, Puschmann, Andreas, Mellick, George, D, Dorszewska, Jolanta, Carr, Jonathan, Ferese, Rosangela, Gambardella, Stefano, Chase, Bruce, Markopoulou, Katerina, Satake, Wataru, Toda, Tatsushi, Rossi, Malco, Merello, Marcelo, Lynch, Timothy, Olszewska, Diana, A, Lim, Shen‐yang, Ahmad-Annuar, Azlina, Tan, Ai Huey, Al-Mubarak, Bashayer, Hanagasi, Hasmet, Koziorowski, Dariusz, Ertan, Sibel, Genç, Gençer, de Carvalho Aguiar, Patricia, Barkhuizen, Melinda, Pimentel, Marcia M.G., Saunders-Pullman, Rachel, van de Warrenburg, Bart, Bressman, Susan, Toft, Mathias, Appel‐cresswell, Silke, Lang, Anthony, E, Skorvanek, Matej, Boon, Agnita J.W., Krüger, Rejko, Sammler, Esther, M, Tumas, Vitor, Zhang, Bao‐rong, Garraux, Gaetan, Chung, Sun Ju, Kim, Yun Joong, Winkelmann, Juliane, Sue, Carolyn, M, Tan, Eng‐king, Damásio, Joana, Klivényi, Péter, Kostic, Vladimir, S, Arkadir, David, Martikainen, Mika, Borges, Vanderci, Hertz, Jens Michael, Brighina, Laura, Spitz, Mariana, Suchowersky, Oksana, Riess, Olaf, Das, Parimal, Mollenhauer, Brit, Gatto, Emilia, M, Petersen, Maria Skaalum, Hattori, Nobutaka, Wu, Ruey‐meei, Illarioshkin, Sergey, N, Valente, Enza Maria, Aasly, Jan, O, Aasly, Anna, Alcalay, Roy, N, Thaler, Avner, Farrer, Matthew, J, Brockmann, Kathrin, Corvol, Jean‐christophe, Klein, Christine, Aasly, Jan O, Abramycheva, Natalya Y, Albanese, Alberto, Alcalay, Roy N, Aldakheel, Amaal, Alkhairallah, Thamer, Al-Tassan, Nada, Amami, Paolo, Appel-Cresswell, Silke, Leite, Marco Antonio Araujo, Ferraz, Henrique Ballalai, Bardien, Soraya, Barrett, Matthew J, Başak, a Nazlı, Bilgic, Basar, Bloem, Bastiaan R, Bonifati, Vincenzo, Boon, Agnita J W, Cesarini, Martin Emiliano, Cornejo-Olivas, Mario, Guedes, Leonor Correia, Corvol, Jean-Christophe, Aguiar, Patricia de Carvalho, Michele, Giuseppe De, Rosa, Anna De, Dieguez, Elena, Farrer, Matthew J, Fedotova, Ekaterina Y, Ferreira, Joaquim J, Fung, Victor S C, Gatto, Emilia M, Illarioshkin, Sergey N, Januario, Cristina, Maestre, Silvia Jesús, Kaasinen, Valtteri, Kataoka, Hiroshi, Kievit, Anneke A, Kostic, Vladimir S, Kühn, Andrea A, Kuo, Ming-Che, Lang, Anthony E, Lee-Chen, Guey-Jen, Lim, Jia Lun, Lim, Shen-Yang, Lin, Chin-Hsien, May, Patrick, Mccarthy, Allan, Mellick, George D, Briceno, Hugo Morales, Morris, Huw, Mosejova, Alexandra, Çakmak, Özgür Öztop, Olszewska, Diana A, Orr-Urtreger, Avi, Pachchek, Sinthuja, Periñán, Maria Teresa, Pimentel, Marcia M G, Procopio, Radha, Ross, Owen A, Ruiz-Martinez, Javier, Sammler, Esther M, Pereira, João Santos, Soto-Beasley, Alexandra I, Sousa, Mário, Sue, Carolyn M, Tan, Eng-King, Tepgeç, Fatih, Uyguner, Oya, Warrenburg, Bart van De, Vollstedt, Eva-Juliane, Walton, Ronald L, Williams-Gray, Caroline H, Wu, Yih-Ru, Wszolek, Zbigniew K, Wu, Ruey-Meei, Zhang, Bao-Rong

المساهمون: Universität zu Lübeck = University of Lübeck Lübeck, The Michael J Fox Foundation for Parkinson's Research, 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), Hertie Institute for Clinical Brain Research Tubingen, Eberhard Karls Universität Tübingen = University of Tübingen, Institut National de Neurologie Mongi-Ben Hamida - Mongi Ben Hmida National Institute of Neurology Tunis, Sackler School of Medicine, Tel Aviv University (TAU), Sagol School of Neuroscience, Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University New York, Indiana University School of Medicine, Indiana University System, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona (UB), Centro de Investigacion Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III Madrid (ISC), University of Athens Medical School Athens, “Attikon” University Hospital, ANR-15-EPIG-0001,decipherPD,DEcipher the ComplexIty and Plasticity of epigenomic cHaracteristics under influence of Environmental factors in the pathomechanistic Regulation of PD(2015), ANR-13-JPRF-0002,COURAGE-PD,COmprehensive Unbiased Risk factor Assessment for Genetics and Environment in Parkinson's Disease(2013)

المصدر: ISSN: 0885-3185.

مصطلحات موضوعية: Parkinson's disease, monogenic PD, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36692014; hal-04530979; https://hal.sorbonne-universite.fr/hal-04530979Test; https://hal.sorbonne-universite.fr/hal-04530979/documentTest; https://hal.sorbonne-universite.fr/hal-04530979/file/Movement%20Disorders%20-%202023%20-%20Vollstedt%20-%20Embracing%20Monogenic%20Parkinson%20s%20Disease%20The%20MJFF%20Global%20Genetic%20PD%20Cohort-1.pdfTest; PUBMED: 36692014

الإتاحة: https://doi.org/10.1002/mds.29288Test
https://hal.sorbonne-universite.fr/hal-04530979Test
https://hal.sorbonne-universite.fr/hal-04530979/documentTest
https://hal.sorbonne-universite.fr/hal-04530979/file/Movement%20Disorders%20-%202023%20-%20Vollstedt%20-%20Embracing%20Monogenic%20Parkinson%20s%20Disease%20The%20MJFF%20Global%20Genetic%20PD%20Cohort-1.pdfTest

المؤلفون: Traschütz, Andreas, Adarmes Gómez, A. D., Anheim, Mathieu, Baets, Jonathan, Brais, Bernard, Gagnon, Cynthia, Gburek-Augustat, Janina, Doss, Sarah, Hanagasi, Hasmet, Kamm, Christoph, Klivenyi, Peter, Klockgether, Thomas, Klopstock, Thomas, Minnerop, Martina, Münchau, Alexander, Renaud, Mathilde, Santorelli, Filippo M., Schöls, Ludger, Thieme, Andreas, Vielhaber, Stefan, Warrenburg, Bart van de, Zanni, Ginevra, Hilgers, Ralf-Dieter, PREPARE Consortium, Synofzik, Matthis

المساهمون: Federal Ministry of Education and Research (Germany), German Research Foundation, University of Tübingen, Research Foundation - Flanders, European Commission, Ministero della Salute, Ministry of Innovation and Technology (Hungary), University of Szeged

وصف الملف: application/pdf

العلاقة: #PLACEHOLDER_PARENT_METADATA_VALUE#; info:eu-repo/grantAgreement/EC/H2020/825575; Publisher's version; The underlying dataset has been published as supplementary material of the article in the publisher platform at https://doi.org/10.1002/ana.26712Test; https://doi.org/10.1002/ana.26712Test; Sí; Annals of Neurology 94(3): 470-485 (2023); http://hdl.handle.net/10261/352934Test

الإتاحة: https://doi.org/10.1002/ana.26712Test
http://hdl.handle.net/10261/352934Test

المؤلفون: Vollstedt, Eva-Juliane, Madoev, Harutyun, Aasly, Anna, Ahmad-Annuar, Azlina, Al-Mubarak, Bashayer, Alcalay, Roy N., Álvarez, Victoria, Amorín, Ignacio, Annesi, Grazia, Arkadir, David, Bardien, Soraya, Barker, Roger A., Barkhuizen, Melinda, Basak, A. Nazli, Bonifati, Vincenzo, Boon, Agnita, Brighina, Laura, Brockmann, Kathrin, Carmine Belin, Andrea, Carr, Jonathan, Clarimon, Jordi, Cornejo-Olivas, Mario, Correia Guedes, Leonor, Corvol, Jean-Christophe, Crosiers, David, Damásio, Joana, Das, Parimal, Aguiar, Patricia de Carvalho, Rosa, Anna De, Dorszewska, Jolanta, Ertan, Sibel, Ferese, Rosangela, Ferreira, Joaquim, Gatto, Emilia, Genç, Gençer, Giladi, Nir, Gómez-Garre, Pilar, Hanagasi, Hasmet, Hattori, Nobutaka, Hentati, Faycal, Hoffman-Zacharska, Dorota, Illarioshkin, Sergey N., Jankovic, Joseph, Jesús Maestre, Silvia, Kaasinen, Valtteri, Kievit, Anneke, Klivenyi, Peter, Kostic, Vladimir, Koziorowski, Dariusz, Kühn, Andrea A., Lang, Anthony E., Lim, Shen-Yang, Lin, Chin-Hsien, Lohmann, Katja, Markovic, Vladana, Martikainen, Mika Henrik, Mellick, George, Merello, Marcelo, Milanowski, Lukasz, Mir, Pablo, Öztop-Çakmak, Özgür, Pimentel, Márcia Mattos Gonçalves, Pulkes, Teeratorn, Puschmann, Andreas, Rogaeva, Ekaterina, Sammler, Esther M., Skaalum Petersen, Maria, Skorvanek, Matej, Spitz, Mariana, Suchowersky, Oksana, Tan, Ai Huey, Termsarasab, Pichet, Thaler, Avner, Tumas, Vitor, Valente, Enza Maria, Warrenburg, Bart van de, Williams-Gray, Caroline H., Wu, Ruey-Mei, Zhang, Baorong, Zimprich, Alexander, Solle, Justin, Padmanabhan, Shalini, Klein, Christine

المساهمون: Michael J. Fox Foundation for Parkinson's Research, Cambridge Biomedical Research Centre, National Institute for Health and Care Research (US)

وصف الملف: application/pdf

العلاقة: Publisher's version; https://doi.org/10.1371/journal.pone.0292180Test; Sí; PLoS ONE 18(10): e0292180 (2023); http://hdl.handle.net/10261/350322Test; http://dx.doi.org/10.13039/100000864Test; 2-s2.0-85172999938; https://api.elsevier.com/content/abstract/scopus_id/85172999938Test

الإتاحة: https://doi.org/10.1371/journal.pone.029218010.13039/100000864Test
http://hdl.handle.net/10261/350322Test
https://api.elsevier.com/content/abstract/scopus_id/85172999938Test

المؤلفون: Perez-Lloret, Santiago, Warrenburg, Bart van de, Rossi, Malco, Rodríguez-Blázquez, Carmen, Zesiewicz, Theresa, Saute, Jonas Alex Morales, Dürr, Alexandra, Nishizawa, Masatoyo, Martinez-Martin, Pablo, Stebbins, Glenn T., Schrag, Anette, Skorvanek , Matej, MDS Rating Scales Review Committee

مصطلحات موضوعية: Friedreich's ataxia, Ataxi, Cerebellar disorders, Clinical trials, Rating scales, Spinocerebellar ataxia, Ataxia de Friedreich, Doenças cerebelares, Ataxias espinocerebelares

وصف الملف: application/pdf

العلاقة: Movement disorders. New York. Vol. 36, no. 2 (Feb. 2021), p. 283-297; http://hdl.handle.net/10183/250496Test; 001151973

الإتاحة: http://hdl.handle.net/10183/250496Test

المؤلفون: Hübener-Schmid, Jeannette, Kuhlbrodt, Kirsten, Peladan, Julien, Faber, Jennifer, Santana, Magda M., Hengel, Holger, Jacobi, Heike, Reetz, Kathrin, Garcia-Moreno, Hector, Raposo, Mafalda, Gaalen, Judith van, Infante Ceberio, Jon, Steiner, Katharina M., Vries, Jeroen de, Verbeek, Marcel M., Giunti, Paola, Almeida, Luis Pereira de, Lima, Manuela, Warrenburg, Bart van de, Schöls, Ludger

المساهمون: Universidad de Cantabria

المصدر: Movement Disorders, 2021, Volume36, Issue11, 2675-2681

مصطلحات موضوعية: Ataxin-3, Machado-Joseph disease, Spinocerebellar ataxia type 3, Singulex technology, Target engagement biomarker

العلاقة: https://doi.org/10.1002/mds.28749Test; http://hdl.handle.net/10902/24039Test

الإتاحة: https://doi.org/10.1002/mds.28749Test
http://hdl.handle.net/10902/24039Test

المؤلفون: Faber, Jennifer, Schaprian, Tamara, Berkan, Koyak, Reetz, Kathrin, França, Marcondes Cavalcante, Rezende, Thiago Junqueira Ribeiro de, Jiang Hong, Weihua Liao, Warrenburg, Bart van de, Gaalen, Judith van, Durr, Alexandra, Mochel, Fanny, Giunti, Paola, Garcia-Moreno, Hector, Schoels, Ludger, Hengel, Holger, Synofzik, Matthis, Bender, Benjamin, Oz, Gulin, Infante Ceberio, Jon

المساهمون: Universidad de Cantabria

المصدر: Movement Disorders, Vol. 36, No. 10, 2021

مصطلحات موضوعية: Spinocerebellar ataxia, MRI, Volumetry, Biomarker

العلاقة: https://doi.org/10.1002/mds.28610Test; http://hdl.handle.net/10902/24040Test

الإتاحة: https://doi.org/10.1002/mds.28610Test
http://hdl.handle.net/10902/24040Test

المؤلفون: Wilke, Carlo, Haas, Eva, Reetz, Kathrin, Faber, Jennifer, Garcia-Moreno, Hector, Santana, Magda M, Warrenburg, Bart van de, Hengel, Holger, Lima, Manuela, Filla, Alessandro, Durr, Alexandra, Melegh, Bela, Masciullo, Marcella, Infante Ceberio, Jon, Giunti, Paola, Neumann, Manuela, Vries, Jeroen de, Pereira de Almeida, Luis, Rakowicz, Maria, Jacobi, Heike

المساهمون: Universidad de Cantabria

المصدر: EMBO Mol Med . 2020 Jul 7;12(7):e11803

مصطلحات موضوعية: Knock-In Mouse Model, Neurofilament Light Chain, Phosphorylated Neurofilament Heavy Chain, Presymptomatic Stage, Spinocerebellar Ataxia Type 3

العلاقة: https://www.doi.org/10.15252/emmm.201911803Test; http://hdl.handle.net/10902/18954Test

الإتاحة: https://doi.org/10.15252/emmm.201911803Test
http://hdl.handle.net/10902/18954Test

المؤلفون: Pérez Lloret, Santiago, Warrenburg, Bart van de, Rossi, Malco Damián, Rodríguez-Blázquez, Carmen, Zesiewicz, Theresa, Saute, Jonas A. M., Durr, Alexandra, Nishizawa, Masatoyo, Martinez-Martin, Pablo, Stebbins, Glenn T., Schrag, Anette, Skorvanek, Matej

المصدر: Movement Disorders 2020

مصطلحات موضوعية: ATAXIA, DESORDENES CEREBRALES, ENSAYO CLINICO, ESCALA DE CLASIFICACION, NEUROLOGIA

وصف الملف: application/pdf

العلاقة: Pérez Lloret, S. [et al.]. Assessment of ataxia rating scales and cerebellar functional tests : critique and recommendations [en línea]. Movement Disorders. 2020. Disponible en: https://repositorio.uca.edu.ar/handle/123456789/10858Test; 1531-8257 (online); https://repositorio.uca.edu.ar/handle/123456789/10858Test

الإتاحة: https://doi.org/10.1002/mds.28313Test
https://repositorio.uca.edu.ar/handle/123456789/10858Test

المؤلفون: Traschuetz, Andreas, Schirinzi, Tommaso, Laugwitz, Lucia, Murray, Nathan H., Bingman, Craig A., Reich, Selina, Kern, Jan, Heinzmann, Anna, Vasco, Gessica, Bertini, Enrico, Zanni, Ginevra, Durr, Alexandra, Magri, Stefania, Taroni, Franco, Malandrini, Alessandro, Baets, Jonathan, de Jonghe, Peter, de Ridder, Willem, Bereau, Matthieu, Demuth, Stephanie, Ganos, Christos, Basak, A. Nazli, Hanagasi, Hasmet, Kurul, Semra Hiz, Bender, Benjamin, Schoels, Ludger, Grasshoff, Ute, Klopstock, Thomas, Horvath, Rita, Warrenburg, Bart van de, Burglen, Lydie, Rougeot, Christelle, Ewenczyk, Claire, König, Michel, Santorelli, Filippo M., Anheim, Mathieu, Munhoz, Renato P., Haack, Tobias, Distelmaier, Felix, Pagliarini, David J., Puccio, Helene, Synofzik, Matthis

المصدر: Annals of Neurology

مصطلحات موضوعية: Medizin, Munich Cluster for Systems Neurology (SyNergy), ddc:610

وصف الملف: application/pdf

العلاقة: Traschuetz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan H.; Bingman, Craig A.; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; de Ridder, Willem; Bereau, Matthieu; Demuth, Stephanie; Ganos, Christos; Basak, A. Nazli; Hanagasi, Hasmet; Kurul, Semra Hiz; Bender, Benjamin; Schoels, Ludger; Grasshoff, Ute; Klopstock, Thomas; Horvath, Rita; Warrenburg, Bart van de; Burglen, Lydie; Rougeot, Christelle; Ewenczyk, Claire; König, Michel; Santorelli, Filippo M.; Anheim, Mathieu; Munhoz, Renato P.; Haack, Tobias; Distelmaier, Felix; Pagliarini, David J.; Puccio, Helene und Synofzik, Matthis (2020): Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients. In: Annals of Neurology, Bd. 88, Nr. 2: S. 251-263 [PDF, 7MB]; https://epub.ub.uni-muenchenTest.de/84871/1/Annals_of_Neurology_-_2020_-_Traschuetz_-_Clinico%E2%80%90Genetic_Imaging_and_Molecular_Delineation_of_COQ8A%E2%80%90Ataxia_A_Multicenter.pdf; http://nbn-resolvingTest.de/urn:nbn:de:bvb:19-epub-84871-7; https://epub.ub.uni-muenchenTest.de/84871/

الإتاحة: https://doi.org/10.1002/ana.25751Test
https://epub.ub.uni-muenchenTest.de/84871/1/Annals_of_Neurology_-_2020_-_Traschuetz_-_Clinico%E2%80%90Genetic_Imaging_and_Molecular_Delineation_of_COQ8A%E2%80%90Ataxia_A_Multicenter.pdf
https://epub.ub.uni-muenchenTest.de/84871/
http://nbn-resolvingTest.de/urn:nbn:de:bvb:19-epub-84871-7

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/awx285Test

مصطلحات 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