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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]
Nasca, Alessia; Mencacci, Niccolo E.; Invernizzi, Federica; Zech, Michael; Sarmiento, Ignacio J. Keller; Legati, Andrea; Frascarelli, Chiara; Bustos, Bernabe; Romito, Luigi M.; Krainc, Dimitri; Winkelmann, Juliane; Carecchio, Miryam; Nardocci, Nardo; Zorzi, Giovanna; Prokisch, Holger; Lubbe, Steven J.; Garavaglia, Barbara und Ghezzi, Daniele
(2023):
Variants in ATP5F1B are associated with dominantly inherited dystonia.
In: Brain, Bd. 146, Nr. 7: S. 2730-2738
[PDF, 913kB]
Svorenova, Tatiana; Romito, Luigi M.; Colangelo, Isabel; Han, Vladimir; Jech, Robert; Prokisch, Holger; Winkelmann, Juliane; Skorvanek, Matej; Garavaglia, Barbara und Zech, Michael
(2022):
Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype.
In: Parkinsonism & Related Disorders, Bd. 102: S. 89-91
Garavaglia, Barbara; Vallian, Sadeq; Romito, Luigi M.; Straccia, Giulia; Capecci, Marianna; Invernizzi, Federica; Andrenelli, Elisa; Kazemi, Arezu; Boesch, Sylvia; Kopajtich, Robert; Olfati, Nahid; Shariati, Mohammad; Shoeibi, Ali; Sadr-Nabavi, Ariane; Prokisch, Holger; Winkelmann, Juliane und Zech, Michael
(2022):
AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.
In: Parkinsonism & Related Disorders, Bd. 97: S. 52-56