PuSH - Publikationsserver des Helmholtz Zentrums München

Zeitschriften-Browsing

35 Datensätze gefunden.
Zum Exportieren der Ergebnisse bitte einloggen.
▮◀ ◀◀ 1 ... 2 ... ▶▶ ▶▮
Alle Publikationen dieser Seite in den Korb legen
1.
Kafantari, E.* et al.: TOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballism. Parkinsonism Relat. Disord. 134:107781 (2025)
2.
Krygier, M.* et al.: TAOK1-related neurodevelopmental disorder: A new differential diagnosis for childhood-onset tremor! Parkinsonism Relat. Disord. 133:107323 (2025)
3.
Quazza, F.* et al.: Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia. Parkinsonism Relat. Disord. 132:107274 (2025)
4.
Saparov, A. & Zech, M.: Big data and transformative bioinformatics in genomic diagnostics and beyond. Parkinsonism Relat. Disord.:107311 (2025)
5.
Stehr, A.M.* et al.: Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders. Parkinsonism Relat. Disord. 133:107319 (2025)
6.
Stehr, A.M.* et al.: Corrigendum to "Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders" [Parkinson. Relat. Disord. (2025) 133 107319]. Parkinsonism Relat. Disord. 134:107795 (2025)
7.
Stretavská, P.* et al.: Paroxysmal nocturnal dystonia in DNM1L-related syndrome. Parkinsonism Relat. Disord. 133:107351 (2025)
8.
Blaschek, A.* et al.: TAOK1-related neurodevelopmental disorder: A new differential diagnosis for childhood-onset tremor? Parkinsonism Relat. Disord. 109:105320 (2023)
9.
Indelicato, E. et al.: SOXopathies and dystonia: Consolidation of a recurrent association. Parkinsonism Relat. Disord. 119:105960 (2023)
10.
Necpál, J.* ; Winkelmann, J. ; Zech, M. & Jech, R.*: A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy. Parkinsonism Relat. Disord. 111:105437 (2023)
11.
Pavelekova, P.* et al.: Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders. Parkinsonism Relat. Disord. 111:105352 (2023)
12.
Doppler, K.* et al.: Association between probable REM sleep behavior disorder and increased dermal alpha-synuclein deposition in Parkinson's disease. Parkinsonism Relat. Disord. 99, 58-61 (2022)
13.
Dzinovic, I. et al.: Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes. Parkinsonism Relat. Disord. 102, 1-6 (2022)
14.
Dzinovic, I. ; Winkelmann, J. & Zech, M.: Genetic intersection between dystonia and neurodevelopmental disorders: Insights from genomic sequencing. Parkinsonism Relat. Disord. 102, 131-140 (2022)
15.
Garavaglia, B.* et al.: AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism. Parkinsonism Relat. Disord. 97, 52-56 (2022)
16.
Škorvánek, M.* et al.: WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia. Parkinsonism Relat. Disord. 94, 54-61 (2022)
17.
Straccia, G.* et al.: ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome. Parkinsonism Relat. Disord. 104, 3-6 (2022)
18.
Svorenova, T.* et al.: Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype. Parkinsonism Relat. Disord. 102, 89-91 (2022)
19.
Amprosi, M.* et al.: The rare and the common: An Austrian DRPLA family harboring the European haplotype. Parkinsonism Relat. Disord. 87, 119-121 (2021)
20.
Doppler, K.* et al.: Consistent skin alpha-synuclein positivity in REM sleep behavior disorder-A two center two-to-four-year follow-up study. Parkinsonism Relat. Disord. 86, 108-113 (2021)
▮◀ ◀◀ 1 ... 2 ... ▶▶ ▶▮