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Zeitschriftenartikel
Svorenova, Tatiana 
ORCID: https://orcid.org/0009-0006-5237-8736; Romito, Luigi M. ORCID: https://orcid.org/0000-0002-6772-1035; Kaymak, Ahmet; Mulroy, Eoin ORCID: https://orcid.org/0000-0002-0823-8916; Cif, Laura; Moro, Elena ORCID: https://orcid.org/0000-0002-7968-5908; Zeuner, Kirsten E.; Zittel, Simone; Petry‐Schmelzer, Jan Niklas ORCID: https://orcid.org/0000-0003-0749-3840; Gruber, Doreen; Centen, Liesanne; Albanese, Alberto; Ostrozovicova, Miriama; Han, Vladimir; Magocova, Veronika; Knorovsky, Kamil; Kollova, Aurelia; Garavaglia, Barbara; Golfrè‐Andreasi, Nico; Reale, Chiara; Mazzoni, Alberto; Zorzi, Giovanna; Eleopra, Roberto; Levi, Vincenzo; Foltynie, Thomas ORCID: https://orcid.org/0000-0003-0752-1813; Limousin, Patricia; Akram, Harith; Zrinzo, Ludvic; Magrinelli, Francesca ORCID: https://orcid.org/0000-0003-4706-6245; Murphy, David; Houlden, Henry; Kurian, Manju A.; Baiata, Claudio; Paschen, Steffen; Lohmann, Katja ORCID: https://orcid.org/0000-0002-5121-1460; Volkmann, Jens; Hamel, Wolfgang; Barbe, Michael T.; Egmond, Martje E. van; Tijssen, MAJ; Ambro, Lubos; Jurkova, Veronika; Jech, Robert; Havrankova, Petra; Winkelmann, Juliane; Zech, Michael und Skorvanek, Matej
(2025):
Deep Brain Stimulation for VPS16‐Related Dystonia: A Multicenter Study.
In: Annals of Neurology, Bd. 98, Nr. 4: S. 711-725
[PDF, 1MB]
ORCID: https://orcid.org/0009-0006-5237-8736; Romito, Luigi M. ORCID: https://orcid.org/0000-0002-6772-1035; Kaymak, Ahmet; Mulroy, Eoin ORCID: https://orcid.org/0000-0002-0823-8916; Cif, Laura; Moro, Elena ORCID: https://orcid.org/0000-0002-7968-5908; Zeuner, Kirsten E.; Zittel, Simone; Petry‐Schmelzer, Jan Niklas ORCID: https://orcid.org/0000-0003-0749-3840; Gruber, Doreen; Centen, Liesanne; Albanese, Alberto; Ostrozovicova, Miriama; Han, Vladimir; Magocova, Veronika; Knorovsky, Kamil; Kollova, Aurelia; Garavaglia, Barbara; Golfrè‐Andreasi, Nico; Reale, Chiara; Mazzoni, Alberto; Zorzi, Giovanna; Eleopra, Roberto; Levi, Vincenzo; Foltynie, Thomas ORCID: https://orcid.org/0000-0003-0752-1813; Limousin, Patricia; Akram, Harith; Zrinzo, Ludvic; Magrinelli, Francesca ORCID: https://orcid.org/0000-0003-4706-6245; Murphy, David; Houlden, Henry; Kurian, Manju A.; Baiata, Claudio; Paschen, Steffen; Lohmann, Katja ORCID: https://orcid.org/0000-0002-5121-1460; Volkmann, Jens; Hamel, Wolfgang; Barbe, Michael T.; Egmond, Martje E. van; Tijssen, MAJ; Ambro, Lubos; Jurkova, Veronika; Jech, Robert; Havrankova, Petra; Winkelmann, Juliane; Zech, Michael und Skorvanek, Matej
(2025):
Deep Brain Stimulation for VPS16‐Related Dystonia: A Multicenter Study.
In: Annals of Neurology, Bd. 98, Nr. 4: S. 711-725
[PDF, 1MB]
Steel, Dora; Zech, Michael; Zhao, Chen; Barwick, Katy E. S.; Burke, Derek; Demailly, Diane; Kumar, Kishore R.; Zorzi, Giovanna; Nardocci, Nardo; Kaiyrzhanov, Rauan; Wagner, Matias; Iuso, Arcangela; Berutti, Riccardo; Skorvanek, Matej; Necpal, Jan; Davis, Ryan; Wiethoff, Sarah; Mankad, Kshitij; Sudhakar, Sniya; Ferrini, Arianna; Sharma, Suvasini; Kamsteeg, Erik-Jan; Tijssen, Marina A.; Verschuuren, Corien; Egmond, Martje E. van; Flowers, Joanna M.; McEntagart, Meriel; Tucci, Arianna; Coubes, Philippe; Bustos, Bernabe I.; Gonzalez-Latapi, Paulina; Tisch, Stephen; Darveniza, Paul; Gorman, Kathleen M.; Peall, Kathryn J.; Bötzel, Kai; Koch, Jan C.; Kmiec, Tomasz; Plecko, Barbara; Boesch, Sylvia; Haslinger, Bernhard; Jech, Robert; Garavaglia, Barbara; Wood, Nick; Houlden, Henry; Gissen, Paul; Lubbe, Steven J.; Sue, Carolyn M.; Cif, Laura; Mencacci, Niccolo E.; Anderson, Glenn; Kurian, Manju A. und Winkelmann, Juliane
(2020):
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
In: Annals of Neurology, Bd. 88, Nr. 5: S. 867-877
[PDF, 20MB]
Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Videnovic, Aleksandar; Bischoff, Almut Turid; Bonnet, Cecilia; Cif, Laura; Comella, Cynthia; Correa-Vela, Marta; Escolar, Maria L.; Fraser, Jamie L.; Gonzalez, Victoria; Hermanowicz, Neal; Jech, Robert; Jinnah, Hyder A.; Kmiec, Tomasz; Lang, Anthony; Marti, Maria J.; Mercimek-Andrews, Saadet; Monduy, Migvis; Nimmo, Graeme A. M.; Perez-Duenas, Belen; Pfeiffer, Helle Cecilie Viekilde; Planellas, Lluis; Roze, Emmanuel; Thakur, Nivedita; Tochen, Laura; Vanegas-Arroyave, Nora; Zorzi, Giovanna; Burns, Colleen und Greblikas, Feriandas
(2020):
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.
In: Movement Disorders, Bd. 36, Nr. 6: S. 1342-1352
[PDF, 305kB]
ORCID: https://orcid.org/0000-0003-2805-4652; Videnovic, Aleksandar; Bischoff, Almut Turid; Bonnet, Cecilia; Cif, Laura; Comella, Cynthia; Correa-Vela, Marta; Escolar, Maria L.; Fraser, Jamie L.; Gonzalez, Victoria; Hermanowicz, Neal; Jech, Robert; Jinnah, Hyder A.; Kmiec, Tomasz; Lang, Anthony; Marti, Maria J.; Mercimek-Andrews, Saadet; Monduy, Migvis; Nimmo, Graeme A. M.; Perez-Duenas, Belen; Pfeiffer, Helle Cecilie Viekilde; Planellas, Lluis; Roze, Emmanuel; Thakur, Nivedita; Tochen, Laura; Vanegas-Arroyave, Nora; Zorzi, Giovanna; Burns, Colleen und Greblikas, Feriandas
(2020):
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.
In: Movement Disorders, Bd. 36, Nr. 6: S. 1342-1352
[PDF, 305kB]