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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 2
2025
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]
2020
Schneeberger, Pauline E.; Kortuem, Fanny; Korenke, Georg Christoph; Alawi, Malik; Santer, Rene; Woidy, Mathias; Buhas, Daniela; Fox, Stephanie; Juusola, Jane; Alfadhel, Majid; Webb, Bryn D.; Coci, Emanuele G.; Abou Jamra, Rami; Siekmeyer, Manuela; Biskup, Saskia; Heller, Corina; Maier, Esther M.; Javaher-Haghighi, Poupak; Bedeschi, Maria F.; Ajmone, Paola F.; Iascone, Maria; Peeters, Hilde; Ballon, Katleen; Jaeken, Jaak; Alonso, Aroa Rodriguez; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Meuwissen, Marije E. C.; Beysen, Diane; Kooy, R. Frank; Houlden, Henry; Murphy, David; Doosti, Mohammad; Karimiani, Ehsan G.; Mojarrad, Majid; Maroofian, Reza; Noskova, Lenka; Kmoch, Stanislav; Honzik, Tomas; Cope, Heidi; Sanchez-Valle, Amarilis; Gelb, Bruce D.; Kurth, Ingo; Hempel, Maja und Kutsche, Kerstin
(2020):
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
In: Brain, Bd. 143: S. 2437-2453