Necpál, Ján;Zech, Michael;Winkelmann, Juliane;Jech, Robert
Trisomy X syndrome with dystonia and a pathogenic SATB1 variant.
Neurol Sci
2021
42
9
3883-3884

Zech, Michael;Steel, Dora;Kurian, Manju A;Winkelmann, Juliane
Reply to "Truncating VPS16 Mutations are Rare in Early-Onset Dystonia".
Ann Neurol
2021
89
3

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
A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.
Mov Disord
2021
36
8
1984-1985

Amprosi, Matthias;Zech, Michael;Lichtner, Peter;Eckstein, Gertrud;Unterberger, Iris;Eigentler, Andreas;Indelicato, Elisabetta;Puttinger, Gertraud;Nachbauer, Wolfgang;Boesch, Sylvia
The rare and the common: An Austrian DRPLA family harboring the European haplotype.
Parkinsonism Relat Disord
2021
87
119-121

Manconi, Mauro;Garcia-Borreguero, Diego;Schormair, Barbara;Videnovic, Aleksandar;Berger, Klaus;Ferri, Raffaele;Dauvilliers, Yves
Restless legs syndrome.
Nat Rev Dis Primers
2021
7
1

Amprosi, Matthias;Zech, Michael;Steiger, Ruth;Nachbauer, Wolfgang;Eigentler, Andreas;Gizewski, Elke R;Guger, Michael;Indelicato, Elisabetta;Boesch, Sylvia
Familial writer's cramp: a clinical clue for inherited coenzyme Q10 deficiency.
Neurogenetics
2021
22
1
81-86

Pavelekova, P;Jech, R;Zech, M;Krepelova, A;Han, V;Mosejova, A;Liba, Z;Urgosik, D;Gdovinova, Z;Havrankova, P;Fecikova, A;Winkelmann, J;Skorvanek, M
Atypical presentations of DYT1 dystonia with acute craniocervical onset.
Parkinsonism Relat Disord
2021
83
54-55

Musacchio, Thomas;Zech, Michael;Reich, Martin M;Winkelmann, Juliane;Volkmann, Jens
A Recurrent EIF2AK2 Missense Variant Causes Autosomal-Dominant Isolated Dystonia.
Ann Neurol
2021
89
6
1257-1258

Zech, Michael;Jech, Robert;Boesch, Sylvia;Škorvánek, Matej;Necpál, Ján;Švantnerová, Jana;Wagner, Matias;Sadr-Nabavi, Ariane;Distelmaier, Felix;Krenn, Martin;Serranová, Tereza;Rektorová, Irena;Havránková, Petra;Mosejová, Alexandra;Příhodová, Iva;Šarláková, Jana;Kulcsarová, Kristína;Ulmanová, Olga;Bechyně, Karel;Ostrozovičová, Miriam;Haň, Vladimír;Ventosa, Joaquim Ribeiro;Brunet, Theresa;Berutti, Riccardo;Shariati, Mohammad;Shoeibi, Ali;Schneider, Susanne A;Kuster, Alice;Baumann, Matthias;Weise, David;Wilbert, Friederike;Janzarik, Wibke G;Eckenweiler, Matthias;Mall, Volker;Haslinger, Bernhard;Berweck, Steffen;Winkelmann, Juliane;Oexle, Konrad
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study.
Mov Disord
2021
36
8
1959-1964

Monfrini, Edoardo;Zech, Michael;Steel, Dora;Kurian, Manju A;Winkelmann, Juliane;Di Fonzo, Alessio
HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia.
Brain
2021
144
9
2610-2615