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Anzahl der Publikationen: 4
Zeitschriftenartikel
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-+
Hayer, Stefanie Nicole; Liepelt, Inga; Barro, Christian; Wilke, Carlo; Kuhle, Jens; Martus, Peter; Schoels, Ludger; Schulz, Jörg Bernhard; Reetz, Kathrin; Fedosov, Kathrin; Didszun, Claire; Klockgether, Thomas; Giordano, Ilaria; Pandolfo, Massimo; Depondt, Chantal; Rai, Myriam; Boesch, Sylvia; Nachbauer, Wolfgang; Eigentler, Andreas; Indelicato, Elisabetta; Giunti, Paola; Parkinson, Michael; Manso, Katarina; Thomas-Black, Gilbert; Garcia-Moreno, Hector; Solanky, Nita; Abeti, Rosella; Polke, James; Labrum, Robin; Garrido, Rodriguez de Rivera Francisco Javier; Mascias, Javier; Velasco, Sanchez Sara; Garcia, Secades Sergio; Mariotti, Caterina; Nanetti, Lorenzo; Castaldo, Anna; Mongelli, Alessia; Fichera, Mario; Klopstock, Thomas; Karin, Ivan; Stendel, Claudia; Radelfahr, Florentine; Durr, Alexandra; Biet, Marie; Charles, Perrine; Ewenczyk, Claire; Just, Jennifer; Koutsis, Georgios; Walsh, Richard und Bertini, Enrico
(2020):
NfL and pNfH are increased in Friedreich's ataxia.
In: Journal of Neurology, Bd. 267, Nr. 5: S. 1420-1430
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
Boot, Erik; Butcher, Nancy J.; Udow, Sean; Marras, Connie; Mok, Kin Y.; Kaneko, Satoshi; Barrett, Matthew J.; Prontera, Paolo; Berman, Brian D.; Masellis, Mario; Dufournet, Boris; Nguyen, Karine; Charles, Perrine; Mutez, Eugenie; Danaila, Teodor; Jacquette, Aurelia; Colin, Olivier; Drapier, Sophie; Borg, Michel; Fiksinski, Ania M.; Vergaelen, Elfi; Swillen, Ann; Vogels, Annick; Plate, Annika; Perandones, Claudia; Gasser, Thomas; Clerinx, Kristien; Bourdain, Frederic; Mills, Kelly; Williams, Nigel M.; Wood, Nicholas W.; Booij, Jan; Lang, Anthony E. und Bassett, Anne S.
(2018):
Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.
In: Neurology, Bd. 90, Nr. 23, E2059-E2067