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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 5
2023
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-Hubsch, 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; Warrenburg, Bart Van de; Schoels, Ludger; Taroni, Franco; Brice, Alexis und Durr, Alexandra
(2023):
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
In: American Journal of Human Genetics, Bd. 110, Nr. 7:
1098-+
2022
Leonardi, Matilde 
ORCID: https://orcid.org/0000-0003-0552-8923; Lee, Haejung; Kostanjsek, Nenad; Fornari, Arianna; Raggi, Alberto ORCID: https://orcid.org/0000-0002-7433-7779; Martinuzzi, Andrea ORCID: https://orcid.org/0000-0002-0319-3579; Yáñez, Manuel; Almborg, Ann-Helene; Fresk, Magdalena; Besstrashnova, Yanina ORCID: https://orcid.org/0000-0002-5249-3674; Shoshmin, Alexander; Castro, Shamyr Sulyvan ORCID: https://orcid.org/0000-0002-2661-7899; Cordeiro, Eduardo Santana ORCID: https://orcid.org/0000-0003-1621-951X; Cuenot, Marie; Haas, Christine; Maart, Soraya; Maribo, Thomas ORCID: https://orcid.org/0000-0003-0856-6837; Miller, Janice; Mukaino, Masahiko; Snyman, Stefanus ORCID: https://orcid.org/0000-0003-3372-3304; Trinks, Ulrike; Anttila, Heidi; Paltamaa, Jaana ORCID: https://orcid.org/0000-0003-2146-3453; Saleeby, Patricia ORCID: https://orcid.org/0000-0003-2569-7193; Frattura, Lucilla; Madden, Ros; Sykes, Catherine; Gool, Coen H. van; Hrkal, Jakub; Zvolský, Miroslav; Sládková, Petra; Vikdal, Marie; Harðardóttir, Guðrún Auður; Foubert, Josephine; Jakob, Robert; Coenen, Michaela ORCID: https://orcid.org/0000-0001-7492-7907 und Kraus de Camargo, Olaf ORCID: https://orcid.org/0000-0002-7927-7189
(2022):
20 Years of ICF — International Classification of Functioning, Disability and Health: Uses and Applications around the World.
In: International Journal of Environmental Research and Public Health, Bd. 19, Nr. 18, 11321
[PDF, 860kB]
ORCID: https://orcid.org/0000-0003-0552-8923; Lee, Haejung; Kostanjsek, Nenad; Fornari, Arianna; Raggi, Alberto ORCID: https://orcid.org/0000-0002-7433-7779; Martinuzzi, Andrea ORCID: https://orcid.org/0000-0002-0319-3579; Yáñez, Manuel; Almborg, Ann-Helene; Fresk, Magdalena; Besstrashnova, Yanina ORCID: https://orcid.org/0000-0002-5249-3674; Shoshmin, Alexander; Castro, Shamyr Sulyvan ORCID: https://orcid.org/0000-0002-2661-7899; Cordeiro, Eduardo Santana ORCID: https://orcid.org/0000-0003-1621-951X; Cuenot, Marie; Haas, Christine; Maart, Soraya; Maribo, Thomas ORCID: https://orcid.org/0000-0003-0856-6837; Miller, Janice; Mukaino, Masahiko; Snyman, Stefanus ORCID: https://orcid.org/0000-0003-3372-3304; Trinks, Ulrike; Anttila, Heidi; Paltamaa, Jaana ORCID: https://orcid.org/0000-0003-2146-3453; Saleeby, Patricia ORCID: https://orcid.org/0000-0003-2569-7193; Frattura, Lucilla; Madden, Ros; Sykes, Catherine; Gool, Coen H. van; Hrkal, Jakub; Zvolský, Miroslav; Sládková, Petra; Vikdal, Marie; Harðardóttir, Guðrún Auður; Foubert, Josephine; Jakob, Robert; Coenen, Michaela ORCID: https://orcid.org/0000-0001-7492-7907 und Kraus de Camargo, Olaf ORCID: https://orcid.org/0000-0002-7927-7189
(2022):
20 Years of ICF — International Classification of Functioning, Disability and Health: Uses and Applications around the World.
In: International Journal of Environmental Research and Public Health, Bd. 19, Nr. 18, 11321
[PDF, 860kB]
2020
Ebrahimi-Fakhari, Darius; Teinert, Julian; Behne, Robert; Wimmer, Miriam; D'Amore, Angelica; Eberhardt, Kathrin; Brechmann, Barbara; Ziegler, Marvin; Jensen, Dana M.; Nagabhyrava, Premsai; Geisel, Gregory; Carmody, Erin; Shamshad, Uzma; Dies, Kira A.; Yuskaitis, Christopher J.; Salussolia, Catherine L.; Ebrahimi-Fakhari, Daniel; Pearson, Toni S.; Saffari, Afshin; Ziegler, Andreas; Koelker, Stefan; Volkmann, Jens; Wiesener, Antje; Bearden, David R.; Lakhani, Shenela; Segal, Devorah; Udwadia-Hegde, Anaita; Martinuzzi, Andrea; Hirst, Jennifer; Perlman, Seth; Takiyama, Yoshihisa; Xiromerisiou, Georgia; Vill, Katharina; Walker, William O.; Shukla, Anju; Gupta, Rachana Dubey; Dahl, Niklas; Aksoy, Ayse; Verhelst, Helene; Delgado, Mauricio R.; Pourova, Radka Kremlikova; Sadek, Abdelrahim A.; Elkhateeb, Nour M.; Blumkin, Lubov; Brea-Fernandez, Alejandro J.; Dacruz-Alvarez, David; Smol, Thomas; Ghoumid, Jamal; Miguel, Diego; Heine, Constanze; Schlump, Jan-Ulrich; Langen, Hendrik; Baets, Jonathan; Bulk, Saskia; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Lim-Melia, Elizabeth; Aydinli, Nur; Alanay, Yasemin; El-Rashidy, Omnia; Nampoothiri, Sheela; Patel, Chirag; Beetz, Christian; Bauer, Peter; Yoon, Grace; Guillot, Mireille; Miller, Steven P.; Bourinaris, Thomas; Houlden, Henry; Robelin, Laura; Anheim, Mathieu; Alamri, Abdullah S.; Mahmoud, Adel A. H.; Inaloo, Soroor; Habibzadeh, Parham; Faghihi, Mohammad Ali; Jansen, Anna C.; Brock, Stefanie; Roubertie, Agathe; Darras, Basil T.; Agrawal, Pankaj B.; Santorelli, Filippo M.; Gleeson, Joseph; Zaki, Maha S.; Sheikh, Sarah; Bennett, James T. und Sahin, Mustafa
(2020):
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
In: Brain, Bd. 143: S. 2929-2944
2019
Coarelli, Giulia; Schule, Rebecca; van de Warrenburg, Bart P. C.; De Jonghe, Peter; Ewenczyk, Claire; Martinuzzi, Andrea; Synofzik, Matthis; Hamer, Elisa G.; Baets, Jonathan; Anheim, Mathieu; Schoels, Ludger; Deconinck, Tine; Masrori, Pegah; Fontaine, Bertrand; Klockgether, Thomas; D'Angelo, Maria Grazia; Monin, Marie-Lorraine; De Bleecker, Jan; Migeotte, Isabelle; Charles, Perrine; Bassi, Maria Teresa; Klopstock, Thomas; Mochel, Fanny; Ollagnon-Roman, Elisabeth; D'Hooghe, Marc; Kamm, Christoph; Kurzwelly, Delia; Papin, Melanie; Davoine, Claire-Sophie; Banneau, Guillaume; du Montcel, Sophie Tezenas; Seilhean, Danielle; Brice, Alexis; Duyckaerts, Charles; Stevanin, Giovanni und Durr, Alexandra
(2019):
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
In: Neurology, Bd. 92, Nr. 23, E2679-E2690
2017
Schoels, Ludger; Rattay, Tim W.; Martus, Peter; Meisner, Christoph; Baets, Jonathan; Fischer, Imma; Jaegle, Christine; Fraidakis, Matthew J.; Martinuzzi, Andrea; Saute, Jonas Alex; Scarlato, Marina; Antenora, Antonella; Stendel, Claudia; Hoeflinger, Philip; Lourenco, Charles Marques; Abreu, Lisa; Smets, Katrien; Paucar, Martin; Deconinck, Tine; Bis, Dana M.; Wiethoff, Sarah; Bauer, Peter; Arnoldi, Alessia; Marques, Wilson; Jardim, Laura Bannach; Hauser, Stefan; Criscuolo, Chiara; Filla, Alessandro; Zuchner, Stephan; Bassi, Maria Teresa; Klopstock, Thomas; Jonghe, Peter de; Bjorkhem, Ingemar und Schuele, Rebecca
(2017):
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
In: Brain, Bd. 140: S. 3112-3127