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Anzahl der Publikationen: 4
Zeitschriftenartikel
Sorrentino, Ugo 
ORCID: https://orcid.org/0000-0001-8139-6198; Romito, Luigi M. ORCID: https://orcid.org/0000-0002-6772-1035; Garavaglia, Barbara ORCID: https://orcid.org/0000-0003-4323-9145; Fichera, Mario ORCID: https://orcid.org/0000-0002-9609-3787; Colangelo, Isabel ORCID: https://orcid.org/0000-0001-6402-9417; Prokisch, Holger ORCID: https://orcid.org/0000-0003-2379-6286; Winkelmann, Juliane ORCID: https://orcid.org/0000-0002-3074-599X; Necpal, Jan ORCID: https://orcid.org/0000-0002-4626-9588; Jech, Robert ORCID: https://orcid.org/0000-0002-9732-8947 und Zech, Michael ORCID: https://orcid.org/0000-0001-8112-9153
(2024):
Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant.
In: Tremor and Other Hyperkinetic Movements, Bd. 14, Nr. 1, 16: S. 1-9
[PDF, 2MB]
ORCID: https://orcid.org/0000-0001-8139-6198; Romito, Luigi M. ORCID: https://orcid.org/0000-0002-6772-1035; Garavaglia, Barbara ORCID: https://orcid.org/0000-0003-4323-9145; Fichera, Mario ORCID: https://orcid.org/0000-0002-9609-3787; Colangelo, Isabel ORCID: https://orcid.org/0000-0001-6402-9417; Prokisch, Holger ORCID: https://orcid.org/0000-0003-2379-6286; Winkelmann, Juliane ORCID: https://orcid.org/0000-0002-3074-599X; Necpal, Jan ORCID: https://orcid.org/0000-0002-4626-9588; Jech, Robert ORCID: https://orcid.org/0000-0002-9732-8947 und Zech, Michael ORCID: https://orcid.org/0000-0001-8112-9153
(2024):
Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant.
In: Tremor and Other Hyperkinetic Movements, Bd. 14, Nr. 1, 16: S. 1-9
[PDF, 2MB]
Porcu, Luca; Fichera, Mario; Nanetti, Lorenzo; Rulli, Eliana; Giunti, Paola; Parkinson, Michael H.; Durr, Alexandra; Ewenczyk, Claire; Boesch, Sylvia; Nachbauer, Wolfgang; Indelicato, Elisabetta; Klopstock, Thomas; Stendel, Claudia; de Rivera, Francisco Javier Rodriguez; Schoels, Ludger; Fleszar, Zofia; Giordano, Ilaria; Didszun, Claire; Castaldo, Anna; Rai, Myriam; Klockgether, Thomas; Pandolfo, Massimo; Schulz, Joerg B.; Reetz, Kathrin und Mariotti, Caterina
(2023):
Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.
In: Annals of Clinical and Translational Neurology, Bd. 10, Nr. 11: S. 2000-2012
[PDF, 1MB]
Hohenfeld, Christian; Terstiege, Ulrich; Dogan, Imis; Giunti, Paola; Parkinson, Michael H.; Mariotti, Caterina; Nanetti, Lorenzo; Fichera, Mario; Durr, Alexandra; Ewenczyk, Claire; Boesch, Sylvia; Nachbauer, Wolfgang; Klopstock, Thomas; Stendel, Claudia; de Rivera Garrido, Francisco Javier Rodriguez; Schoels, Ludger; Hayer, Stefanie N.; Klockgether, Thomas; Giordano, Ilaria; Didszun, Claire; Rai, Myriam; Pandolfo, Massimo; Rauhut, Holger; Schulz, Joerg B. und Reetz, Kathrin
(2022):
Prediction of the disease course in Friedreich ataxia.
In: Scientific Reports, Bd. 12, Nr. 1, 19173
[PDF, 1MB]
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