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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 3

Zeitschriftenartikel

Zech, Michael; Dzinovic, Ivana; Skorvanek, Matej; Harrer, Philip; Necpal, Jan; Kopajtich, Robert; Kittke, Volker; Tilch, Erik; Zhao, Chen; Tsoma, Eugenia; Sorrentino, Ugo; Indelicato, Elisabetta ORCID logoORCID: https://orcid.org/0000-0003-0217-8630; Stehr, Antonia; Saparov, Alice; Abela, Lucia; Adamovicova, Miriam; Afenjar, Alexandra; Assmann, Birgit; Baloghova, Janette; Baumann, Matthias; Berutti, Riccardo; Brezna, Zuzana; Brugger, Melanie ORCID logoORCID: https://orcid.org/0000-0002-6920-8550; Brunet, Theresa ORCID logoORCID: https://orcid.org/0000-0002-5183-780X; Cogne, Benjamin; Colangelo, Isabel; Conboy, Erin; Distelmaier, Felix ORCID logoORCID: https://orcid.org/0000-0001-8460-3738; Eckenweiler, Matthias; Garavaglia, Barbara; Geerlof, Arie; Graf, Elisabeth; Hackenberg, Annette; Harvanova, Denisa; Haslinger, Bernhard; Havrankova, Petra; Hoffmann, Georg F.; Janzarik, Wibke G.; Keren, Boris; Kolnikova, Miriam; Kolokotronis, Konstantinos; Kosutzka, Zuzana; Koy, Anne ORCID logoORCID: https://orcid.org/0000-0002-7991-4432; Krenn, Martin; Krygier, Magdalena; Kusikova, Katarina; Maier, Oliver; Meitinger, Thomas; Mertes, Christian; Milenkovic, Ivan; Monfrini, Edoardo ORCID logoORCID: https://orcid.org/0000-0003-4720-9234; Santos Dias Mourao, Andre; Musacchio, Thomas; Nizon, Mathilde; Ostrozovicova, Miriam ORCID logoORCID: https://orcid.org/0000-0003-1519-1535; Pavlov, Martin; Prihodova, Iva; Rektorova, Irena; Romito, Luigi M. ORCID logoORCID: https://orcid.org/0000-0002-6772-1035; Rybanska, Barbora; Sadr-Nabavi, Ariane; Schwenger, Susanne; Shoeibi, Ali; Sitzberger, Alexandra; Smirnov, Dmitrii; Svantnerova, Jana; Tautanova, Raushana; Toelle, Sandra P.; Ulmanova, Olga; Vetrini, Francesco; Vill, Katharina; Wagner, Matias ORCID logoORCID: https://orcid.org/0000-0002-4454-8823; Weise, David; Zorzi, Giovanna; Di Fonzo, Alessio ORCID logoORCID: https://orcid.org/0000-0001-6478-026X; Oexle, Konrad; Berweck, Steffen; Mall, Volker; Boesch, Sylvia; Schormair, Barbara ORCID logoORCID: https://orcid.org/0000-0003-0942-5243; Prokisch, Holger; Jech, Robert und Winkelmann, Juliane (2025): Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia. In: Brain [Forthcoming]

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 logoORCID: https://orcid.org/0000-0001-8139-6198; Romito, Luigi M. ORCID logoORCID: https://orcid.org/0000-0002-6772-1035; Garavaglia, Barbara ORCID logoORCID: https://orcid.org/0000-0003-4323-9145; Fichera, Mario ORCID logoORCID: https://orcid.org/0000-0002-9609-3787; Colangelo, Isabel ORCID logoORCID: https://orcid.org/0000-0001-6402-9417; Prokisch, Holger ORCID logoORCID: https://orcid.org/0000-0003-2379-6286; Winkelmann, Juliane ORCID logoORCID: https://orcid.org/0000-0002-3074-599X; Necpal, Jan ORCID logoORCID: https://orcid.org/0000-0002-4626-9588; Jech, Robert ORCID logoORCID: https://orcid.org/0000-0002-9732-8947 und Zech, Michael ORCID logoORCID: 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]

Diese Liste wurde am Sat Apr 5 18:41:14 2025 CEST erstellt.

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