1. A Recurrent VPS16 p.Arg187* Nonsense Variant in Early‐Onset Generalized Dystonia. Issue 8 (17th May 2021) Authors: Ostrozovicova, Miriama; Jech, Robert; Steel, Dora; Pavelekova, Petra; Han, Vladimir; Gdovinova, Zuzana; Lichtner, Peter; Kurian, Manju A.; Wiethoff, Sarah; Houlden, Henry; Havránková, Petra; Winkelmann, Julianne; Zech, Michael; Skorvanek, Matej Journal: Movement disorders Issue: Volume 36:Issue 8(2021) Page Start: 1984 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De novo variants in neurodevelopmental disorders—experiences from a tertiary care center. Issue 1 (1st March 2021) Authors: Brunet, Theresa; Jech, Robert; Brugger, Melanie; Kovacs, Reka; Alhaddad, Bader; Leszinski, Gloria; Riedhammer, Korbinian M.; Westphal, Dominik S.; Mahle, Isabella; Mayerhanser, Katharina; Skorvanek, Matej; Weber, Sandrina; Graf, Elisabeth; Berutti, Riccardo; Necpál, Ján; Havránková, Petra; Pavele... Journal: Clinical genetics Issue: Volume 100:Issue 1(2021) Page Start: 14 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series. (September 2021) Authors: Dzinovic, Ivana; Škorvánek, Matej; Necpál, Ján; Boesch, Sylvia; Švantnerová, Jana; Wagner, Matias; Havránková, Petra; Pavelekova, Petra; Haň, Vladimír; Janzarik, Wibke G.; Berweck, Steffen; Diebold, Isabel; Kuster, Alice; Jech, Robert; Winkelmann, Juliane; Zech, Michael Journal: Parkinsonism & related disorders Issue: Volume 90(2021) Page Start: 73 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genetic overlap between dystonia and other neurologic disorders: A study of 1, 100 exomes. (September 2022) Authors: Dzinovic, Ivana; Boesch, Sylvia; Škorvánek, Matej; Necpál, Ján; Švantnerová, Jana; Pavelekova, Petra; Havránková, Petra; Tsoma, Eugenia; Indelicato, Elisabetta; Runkel, Eva; Held, Valentin; Weise, David; Janzarik, Wibke; Eckenweiler, Matthias; Berweck, Steffen; Mall, Volker; Haslinger, Bernhard; ... Journal: Parkinsonism & related disorders Issue: Volume 102(2022) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Monogenic variants in dystonia: an exome-wide sequencing study. Issue 11 (November 2020) Authors: Zech, Michael; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpál, Ján; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fečíková, Anna; Havránková,... Journal: Lancet neurology Issue: Volume 19:Issue 11(2020) Page Start: 908 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Prevalence of Fabry Disease among Patients with Parkinson's Disease. (24th January 2022) Authors: Lackova, Alexandra; Beetz, Christian; Oppermann, Sebastian; Bauer, Peter; Pavelekova, Petra; Lorincova, Tatiana; Ostrozovicova, Miriam; Kulcsarova, Kristina; Cobejova, Jana; Cobej, Martin; Levicka, Petra; Liesenerova, Simona; Sendekova, Daniela; Sukovska, Viktoria; Gdovinova, Zuzana; Han, Vladimi... Other Names: Martella Giuseppina Academic Editor. Journal: Parkinson's disease Issue: Volume 2022(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Variant recurrence confirms the existence of a FBXO31‐related spastic‐dystonic cerebral palsy syndrome. Issue 4 (6th March 2021) Authors: Dzinovic, Ivana; Škorvánek, Matej; Pavelekova, Petra; Zhao, Chen; Keren, Boris; Whalen, Sandra; Bakhtiari, Somayeh; Chih Jin, Sheng; Kruer, Michael C.; Jech, Robert; Winkelmann, Juliane; Zech, Michael Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 4(2021) Page Start: 951 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia. (January 2022) Authors: Skorvanek, Matej; Rektorova, Irena; Mandemakers, Wim; Wagner, Matias; Steinfeld, Robert; Orec, Laura; Han, Vladimir; Pavelekova, Petra; Lackova, Alexandra; Kulcsarova, Kristina; Ostrozovicova, Miriam; Gdovinova, Zuzana; Plecko, Barbara; Brunet, Theresa; Berutti, Riccardo; Kuipers, Demy J.S.; Boum... Journal: Parkinsonism & related disorders Issue: Volume 94(2022) Page Start: 54 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗