Grofik, M;Cibulka, M;Olekšakova, J;Turčanova Koprušakova, M;Galanda, T;Necpal, J;Jungova, P;Kurča, E;Winkelmann, J;Zech, M;Jech, R
Correction: A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report.
BMC Neurol
2022
22
1

Grofik, M;Cibulka, M;Olekšáková, J;Turčanová Koprušáková, M;Galanda, T;Necpál, J;Jungová, P;Kurča, E;Winkelmann, J;Zech, M;Jech, R
A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report.
BMC Neurol
2022
22
1

Harrer, P.;Folberth, J.;Zhao, C.;Schormair, B.;Tilch, E.;Gieger, C.;Peters, A.;Oexle, K.;Schwaninger, M.;Winkelmann, J.
METHYLGLYOXAL - A CENTRAL METABOLIC FACTOR IN RESTLESS LEGS SYNDROME?
Sleep Med
2022
100 Suppl 1
S231-S231

Neuser, Sonja;Brechmann, Barbara;Heimer, Gali;Brosse, Ines;Schubert, Susanna;O'Grady, Lauren;Zech, Michael;Srivastava, Siddharth;Sweetser, David A.;Dincer, Yasemin;Mall, Volker;Winkelmann, Juliane;Behrends, Christian;Darras, Basil T.;Graham, Robert J.;Jayakar, Parul;Byrne, Barry;El Bar-Aluma, Bat;Haberman, Yael;Szeinberg, Amir;Aldhalaan, Hesham M.;Hashem, Mais;Tenaiji, Amal A.;Ibrahim, Shahnaz;Khan, Fatima;Houlden, Henry;Ramakumaran, Vijayalakshmi S.;Pagnamenta, Alistair T.;Posey, Jennifer E.;Lupski, James R.;Tan, Wen-Hann;ElGhazali, Gehad;Herman, Isabella;Munoz, Tatiana;Repetto, Gabriela M.;Seitz, Angelika;Krumbiegel, Mandy;Poli, M. Cecilia;Kini, Usha;Efthymiou, Stephanie;Meiler, Jens;Maroofian, Reza;Alkur-Aya, Fowzan S.;Abou Jamra, Rami;Ben Zeev, Bruria;Ebrahimi-Fakhari, Darius;Popp, Bernt
Beyond founder and truncting variants in TECPR2-associated disorder
Eur J Hum Genet
2022
30 Suppl 1
SUPPL 1
254-255

Zech, Michael;Kopajtich, Robert;Steinbrücker, Katja;Bris, Céline;Gueguen, Naig;Feichtinger, René G;Achleitner, Melanie T;Duzkale, Neslihan;Périvier, Maximilien;Koch, Johannes;Engelhardt, Harald;Freisinger, Peter;Wagner, Matias;Brunet, Theresa;Berutti, Riccardo;Smirnov, Dmitrii;Navaratnarajah, Tharsini;Rodenburg, Richard J T;Pais, Lynn S;Austin-Tse, Christina;O'Leary, Melanie;Boesch, Sylvia;Jech, Robert;Bakhtiari, Somayeh;Jin, Sheng Chih;Wilbert, Friederike;Kruer, Michael C;Wortmann, Saskia B;Eckenweiler, Matthias;Mayr, Johannes A;Distelmaier, Felix;Steinfeld, Robert;Winkelmann, Juliane;Prokisch, Holger
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Ann Neurol
2022
91
2
225-237

Harrer, Philip;Leppmeier, Verena;Berger, Andrea;Demund, Simone;Winkelmann, Juliane;Berweck, Steffen;Zech, Michael
A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article "BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020).".
Eur J Med Genet
2022
65
11

Dzinovic, Ivana;Winkelmann, Juliane;Zech, Michael
Genetic intersection between dystonia and neurodevelopmental disorders: Insights from genomic sequencing.
Parkinsonism Relat Disord
2022
102
131-140

Skorvanek, Matej;Baloghova, Janette;Kulcsarova, Kristina;Winkelmann, Juliane;Jech, Robert;Ostrozovicova, Miriam;Zech, Michael
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders: More Common than Expected.
Mov Disord
2022
37
11
2323-2324

Škorvánek, Matej;Jech, Robert;Winkelmann, Juliane;Zech, Michael
Progressive choreodystonia in X-linked hyper-IgM immunodeficiency: a rare but recurrent presentation.
Ann Clin Transl Neurol
2022
9
4
577-581

Garavaglia, Barbara;Vallian, Sadeq;Romito, Luigi M;Straccia, Giulia;Capecci, Marianna;Invernizzi, Federica;Andrenelli, Elisa;Kazemi, Arezu;Boesch, Sylvia;Kopajtich, Robert;Olfati, Nahid;Shariati, Mohammad;Shoeibi, Ali;Sadr-Nabavi, Ariane;Prokisch, Holger;Winkelmann, Juliane;Zech, Michael
AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.
Parkinsonism Relat Disord
2022
97
52-56