Monogenic variants in dystonia: an exome-wide sequencing study M Zech, R Jech, S Boesch, M Škorvánek, S Weber, M Wagner, C Zhao, ... The Lancet Neurology 19 (11), 908-918, 2020 | 156 | 2020 |
Psychiatric co-morbidity is highly prevalent in idiopathic cervical dystonia and significantly influences health-related quality of life: Results of a controlled study M Smit, A Kuiper, V Han, VCR Jiawan, G Douma, B Van Harten, J Oen, ... Parkinsonism & related disorders 30, 7-12, 2016 | 122 | 2016 |
Differences in MDS‐UPDRS scores based on Hoehn and Yahr stage and disease duration M Skorvanek, P Martinez‐Martin, N Kovacs, M Rodriguez‐Violante, ... Movement disorders clinical practice 4 (4), 536-544, 2017 | 108 | 2017 |
Relationship between the non-motor items of the MDS–UPDRS and Quality of Life in patients with Parkinson's disease M Skorvanek, J Rosenberger, M Minar, M Grofik, V Han, JW Groothoff, ... Journal of the Neurological Sciences 353 (1-2), 87-91, 2015 | 71 | 2015 |
Relationship between the MDS-UPDRS and quality of life: a large multicenter study of 3206 patients M Skorvanek, P Martinez-Martin, N Kovacs, I Zezula, ... Parkinsonism & related disorders 52, 83-89, 2018 | 70 | 2018 |
Paroxysmal exercise‐induced dystonia within the phenotypic spectrum of ECHS1 deficiency S Olgiati, M Skorvanek, M Quadri, M Minneboo, J Graafland, ... Movement Disorders 31 (7), 1041-1048, 2016 | 70 | 2016 |
Fatigue, sleep disturbances, and their influence on quality of life in cervical dystonia patients M Smit, ASJ Kamphuis, AL Bartels, V Han, RE Stewart, I Zijdewind, ... Movement disorders clinical practice 4 (4), 517-523, 2017 | 48 | 2017 |
The clinical syndrome of paroxysmal exercise‐induced dystonia: diagnostic outcomes and an algorithm R Erro, M Stamelou, C Ganos, M Skorvanek, V Han, A Batla, KP Bhatia Movement Disorders Clinical Practice 1 (1), 57-61, 2014 | 36 | 2014 |
Prevalence of non‐motor symptoms and their association with quality of life in cervical dystonia V Han, M Skorvanek, M Smit, M Turcanova Koprusakova, T Hoekstra, ... Acta Neurologica Scandinavica 142 (6), 613-622, 2020 | 29 | 2020 |
Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype? M Skorvanek, P Dusek, M Rydzanicz, A Walczak, J Kosinska, ... Parkinsonism & related disorders 62, 239-241, 2019 | 24 | 2019 |
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia K Khan, M Zech, AT Morgan, DJ Amor, M Skorvanek, TN Khan, ... Genetics in Medicine 21 (11), 2532-2542, 2019 | 22 | 2019 |
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia M Skorvanek, I Rektorova, W Mandemakers, M Wagner, R Steinfeld, ... Parkinsonism & Related Disorders 94, 54-61, 2022 | 19 | 2022 |
Prevalence of prodromal Parkinson’s disease as defined by MDS research criteria among elderly patients undergoing colonoscopy M Skorvanek, Z Ladomirjakova, V Han, N Lesko, E Feketeova, ... Journal of Parkinson's Disease 7 (3), 481-489, 2017 | 18 | 2017 |
α-Synuclein antibody 5G4 identifies manifest and prodromal Parkinson’s disease in colonic mucosa M Skorvanek, E Gelpi, E Mechirova, Z Ladomirjakova, V Han, N Lesko, ... Mov Disord 33 (8), 1366-68, 2018 | 16 | 2018 |
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia M Zech, S Boesch, M Škorvánek, J Necpál, J Švantnerová, M Wagner, ... Parkinsonism & Related Disorders 84, 129-134, 2021 | 15 | 2021 |
The Frequency and Self‐perceived Impact on Daily Life of Motor and Non‐motor Symptoms in Cervical Dystonia M Smit, AL Bartels, A Kuiper, ASJ Kamphuis, V Han, MAJ Tijssen Movement Disorders Clinical Practice 4 (5), 750-754, 2017 | 14 | 2017 |
Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series I Dzinovic, M Škorvánek, J Necpál, S Boesch, J Švantnerová, M Wagner, ... Parkinsonism & Related Disorders 90, 73-78, 2021 | 12 | 2021 |
Scoring algorithm‐based genomic testing in dystonia: a prospective validation study M Zech, R Jech, S Boesch, M Škorvánek, J Necpál, J Švantnerová, ... Movement Disorders 36 (8), 1959-1964, 2021 | 9 | 2021 |
Prevalence of Fabry disease among patients with Parkinson’s disease A Lackova, C Beetz, S Oppermann, P Bauer, P Pavelekova, T Lorincova, ... Parkinson’s Disease 2022, 2022 | 8 | 2022 |
A Recurrent VPS16 p.Arg187* Nonsense Variant in Early‐Onset Generalized Dystonia M Ostrozovicova, R Jech, D Steel, P Pavelekova, V Han, Z Gdovinova, ... Movement Disorders 36 (8), 1984-1985, 2021 | 8 | 2021 |