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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Springe zu: 2024
Anzahl der Publikationen: 2
2024
Sorrentino, Ugo; Boesch, Sylvia; Doummar, Diane; Ravelli, Claudia; Serranova, Tereza; Indelicato, Elisabetta; Winkelmann, Juliane; Burglen, Lydie; Jech, Robert und Zech, Michael
(2024):
CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes.
In: Journal of Neurology, Bd. 271, Nr. 5: S. 2859-2865
[PDF, 467kB]
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]