-
1دورية أكاديميةShort-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia
المؤلفون: Fleszar, ZofiaAff1, Aff2, Dufke, Claudia, Sturm, Marc, Schüle, RebeccaAff1, Aff2, Aff4, Schöls, LudgerAff1, Aff2, Aff5, Haack, Tobias B.Aff3, Aff5, Synofzik, MatthisAff1, Aff2, IDs00415023117458_cor7
المصدر: Journal of Neurology. 270(8):4112-4117
-
2دورية أكاديمية
المؤلفون: Lyu, Hang, Boßelmann, Christian M., Johannesen, Katrine M., Koko, Mahmoud, Ortigoza-Escobar, Juan Dario, Aguilera-Albesa, Sergio, Garcia-Navas Núñez, Deyanira, Linnankivi, Tarja, Gaily, Eija, van Ruiten, Henriette J.A., Richardson, Ruth, Betzler, Cornelia, Horvath, Gabriella, Brilstra, Eva, Geerdink, Niels, Orsucci, Daniele, Tessa, Alessandra, Gardella, Elena, Fleszar, Zofia, Schöls, Ludger, Lerche, Holger, Møller, Rikke S., Liu, Yuanyuan
المصدر: In eBioMedicine December 2023 98
-
3دورية أكاديمية
المؤلفون: Cunha, Paulina, Petit, Emilien, Coutelier, Marie, Coarelli, Giulia, Mariotti, Caterina, Faber, Jennifer, Van Gaalen, Judith, Damasio, Joana, Fleszar, Zofia, Tosi, Michele, Rocca, Clarissa, De Michele, Giovanna, Minnerop, Martina, Ewenczyk, Claire, Santorelli, Filippo M., Heinzmann, Anna, Bird, Thomas, Amprosi, Matthias, Indelicato, Elisabetta, Benussi, Alberto, Charles, Perrine, Stendel, Claudia, Romano, Silvia, Scarlato, Marina, Le Ber, Isabelle, Bassi, Maria Teresa, Serrano, Mercedes, Schmitz-Hübsch, Tanja, Doss, Sarah, Van Velzen, Gijs A.J., Thomas, Quentin, Trabacca, Antonio, Ortigoza-Escobar, Juan Dario, D'Arrigo, Stefano, Timmann, Dagmar, Pantaleoni, Chiara, Martinuzzi, Andrea, Besse-Pinot, Elsa, Marsili, Luca, Cioffi, Ettore, Nicita, Francesco, Giorgetti, Alejandro, Moroni, Isabella, Romaniello, Romina, Casali, Carlo, Ponger, Penina, Casari, Giorgio, De Bot, Susanne T., Ristori, Giovanni, Blumkin, Lubov, Borroni, Barbara, Goizet, Cyril, Marelli, Cecilia, Boesch, Sylvia, Anheim, Mathieu, Filla, Alessandro, Houlden, Henry, Bertini, Enrico, Klopstock, Thomas, Synofzik, Matthis, Riant, Florence, Zanni, Ginevra, Magri, Stefania, Di Bella, Daniela, Nanetti, Lorenzo, Sequeiros, Jorge, Oliveira, Jorge, Van de Warrenburg, Bart, Schöls, Ludger, Taroni, Franco, Brice, Alexis, Durr, Alexandra
المصدر: In The American Journal of Human Genetics 6 July 2023 110(7):1098-1109
-
4دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
5دورية أكاديمية
المؤلفون: Traschütz, Andreas, Fleszar, Zofia, Hengel, Holger, Klockgether, Thomas, Erdlenbruch, Friedrich, Falkenburger, Björn H., Klopstock, Thomas, Öztop‐Çakmak, Özgür, Pedroso, José Luiz, Santorelli, Filippo M., Schöls, Ludger, Synofzik, Matthis
المصدر: Movement Disorders; Jun2024, Vol. 39 Issue 6, p965-974, 10p
-
6دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
7دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
8دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
9
المؤلفون: Santana, Magda M., Gaspar, Laetitia S., Pinto, Maria M., Silva, Patrick, Adão, Diana, Pereira, Dina, Ribeiro, Joana Afonso, Cunha, Inês, Huebener-Schmid, Jeannette, Raposo, Mafalda, Ferreira, Ana F., Faber, Jennifer, Kuhs, Sandra, Garcia-Moreno, Hector, Reetz, Kathrin, Thieme, Andreas, Infante, Jon, Warrenburg, Bart P. C. van de, Giunti, Paola, Riess, Olaf, Schöls, Ludger, Lima, Manuela, Klockgether, Thomas, Januário, Cristina, Almeida, Luís Pereira de, Krahe, Janna, Gaalen, Judith van, Gonzalez-Robles, Cristina, Fleszar, Zofia, Pelayo-Negro, Ana Lara, Manrique, Leire, Timmann-Braun, Dagmar, Steiner, Katharina M., Melo, Ana Rosa Vieira, van de Warrenburg, Bart P. C., de Almeida, Luís Pereira, van Gaalen, Judith
المساهمون: Krahe, Janna, van Gaalen, Judith, Gonzalez-Robles, Cristina, Fleszar, Zofia, Pelayo-Negro, Ana Lara, Manrique, Leire, Timmann, Dagmar, Steiner, Katharina M, Melo, Ana Rosa Vieira
المصدر: Neuropathology & applied neurobiology 49(2), e12892 (2023). doi:10.1111/nan.12892
Neuropathology and Applied Neurobiology, 49
Neuropathology and Applied Neurobiology, 49, 2مصطلحات موضوعية: Histology, research, Cerebellar Ataxia, ataxia, Medizin, biomarkers, standardisation, Machado-Joseph Disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], cerebrospinal fluid, Pathology and Forensic Medicine, All institutes and research themes of the Radboud University Medical Center, Neurology, blood, Physiology (medical), Humans, Spinocerebellar Ataxias, neurodegenerative diseases, Neurology (clinical), ddc:610, protocol, Spinocerebellar Degenerations
وصف الملف: application/pdf
-
10دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.