PuSH - HMGU Publikationen https://push-zb.helmholtz-munich.de PuSH - Publikationen-Server des Helmholtz Zentrums München de-de <![CDATA[Kafantari, E.* et al. TOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballism. Parkinsonism Relat. Disord. 134:107781 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73683&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73683&la=de Wed, 07 May 2025 00:00:00 +0000 <![CDATA[Krygier, M.* et al. TAOK1-related neurodevelopmental disorder: A new differential diagnosis for childhood-onset tremor! Parkinsonism Relat. Disord. 133:107323 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73398&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73398&la=de Fri, 11 Apr 2025 00:00:00 +0000 <![CDATA[Quazza, F.* et al. Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia. Parkinsonism Relat. Disord. 132:107274 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73313&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73313&la=de Fri, 04 Apr 2025 00:00:00 +0000 <![CDATA[Saparov, A. & Zech, M. Big data and transformative bioinformatics in genomic diagnostics and beyond. Parkinsonism Relat. Disord. 134:107311 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73349&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73349&la=de Wed, 09 Apr 2025 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73375&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73375&la=de Tue, 08 Apr 2025 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73737&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73737&la=de Fri, 09 May 2025 00:00:00 +0000 <![CDATA[Stretavská, P.* et al. Paroxysmal nocturnal dystonia in DNM1L-related syndrome. Parkinsonism Relat. Disord. 133:107351 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73550&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73550&la=de Wed, 30 Apr 2025 00:00:00 +0000 <![CDATA[Blaschek, A.* et al. TAOK1-related neurodevelopmental disorder: A new differential diagnosis for childhood-onset tremor? Parkinsonism Relat. Disord. 109:105320 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67517&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67517&la=de Wed, 01 Mar 2023 00:00:00 +0000 <![CDATA[Indelicato, E. et al. SOXopathies and dystonia: Consolidation of a recurrent association. Parkinsonism Relat. Disord. 119:105960 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=69038&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=69038&la=de Thu, 18 Jan 2024 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67813&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67813&la=de Fri, 06 Oct 2023 00:00:00 +0000 <![CDATA[Pavelekova, P.* et al. Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders. Parkinsonism Relat. Disord. 111:105352 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67643&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67643&la=de Fri, 06 Oct 2023 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=65067&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=65067&la=de Wed, 21 Sep 2022 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=65755&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=65755&la=de Thu, 03 Nov 2022 00:00:00 +0000 <![CDATA[Dzinovic, I. ; Winkelmann, J. & Zech, M. Genetic intersection between dystonia and neurodevelopmental disorders: Insights from genomic sequencing. Parkinsonism Relat. Disord. 102, 131-140 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=66212&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=66212&la=de Mon, 19 Sep 2022 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=64626&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=64626&la=de Mon, 18 Jul 2022 00:00:00 +0000 <![CDATA[Škorvánek, M.* et al. WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia. Parkinsonism Relat. Disord. 94, 54-61 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=63780&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=63780&la=de Tue, 01 Feb 2022 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=66365&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=66365&la=de Thu, 24 Nov 2022 00:00:00 +0000 <![CDATA[Svorenova, T.* et al. Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype. Parkinsonism Relat. Disord. 102, 89-91 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=65920&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=65920&la=de Mon, 14 Nov 2022 00:00:00 +0000 <![CDATA[Amprosi, M.* et al. The rare and the common: An Austrian DRPLA family harboring the European haplotype. Parkinsonism Relat. Disord. 87, 119-121 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62083&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62083&la=de Mon, 28 Jun 2021 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62366&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62366&la=de Mon, 05 Jul 2021 00:00:00 +0000 <![CDATA[Dzinovic, I. et al. Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series. Parkinsonism Relat. Disord. 90, 73-78 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62808&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62808&la=de Mon, 20 Sep 2021 00:00:00 +0000 <![CDATA[Pavelekova, P.* et al. Atypical presentations of DYT1 dystonia with acute craniocervical onset. Parkinsonism Relat. Disord. 83, 54-55 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61072&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61072&la=de Tue, 09 Feb 2021 00:00:00 +0000 <![CDATA[Zech, M. et al. Clinically relevant copy-number variants in exome sequencing data of patients with dystonia. Parkinsonism Relat. Disord. 84, 129-134 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61391&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61391&la=de Fri, 23 Apr 2021 00:00:00 +0000 <![CDATA[Hopfner, F.* et al. Private variants in PRKN are associated with late-onset Parkinson's disease. Parkinsonism Relat. Disord. 75, 24-26 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59195&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59195&la=de Tue, 02 Jun 2020 00:00:00 +0000 <![CDATA[Necpál, J.* et al. Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier. Parkinsonism Relat. Disord. 77, 87-88 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59683&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59683&la=de Tue, 21 Jul 2020 00:00:00 +0000 <![CDATA[Zech, M. et al. Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia. Parkinsonism Relat. Disord. 77, 70-75 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59610&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59610&la=de Thu, 23 Jul 2020 00:00:00 +0000 <![CDATA[Becker, A.* ; Faßbender, K.* ; Oertel, W.H. & Unger, M.M.* A punch in the gut - Intestinal inflammation links environmental factors to neurodegeneration in Parkinson's disease. Parkinsonism Relat. Disord. 60, 43-45 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54478&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54478&la=de Mon, 22 Oct 2018 00:00:00 +0000 <![CDATA[Chou, K.L.* et al. The spectrum of "off" in Parkinson's disease: What have we learned over 40 years? Parkinsonism Relat. Disord. 51, 9-16 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53001&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53001&la=de Thu, 07 Jun 2018 00:00:00 +0000 <![CDATA[Jochim, A.* et al. Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia). Parkinsonism Relat. Disord. 46, 74-78 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52212&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52212&la=de Wed, 08 Nov 2017 00:00:00 +0000 <![CDATA[Ouled Amar Bencheikh, B.* et al. LRRK2 protective haplotype and full sequencing study in REM sleep behavior disorder. Parkinsonism Relat. Disord. 52, 98-101 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53323&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53323&la=de Wed, 28 Mar 2018 00:00:00 +0000 <![CDATA[Aridon, P.* et al. A TRAPPC6B splicing variant associates to restless legs syndrome. Parkinsonism Relat. Disord. 31, 135-138 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49919&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49919&la=de Fri, 18 Nov 2016 00:00:00 +0000 <![CDATA[Zech, M. et al. Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls. Parkinsonism Relat. Disord. 31, 119-123 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49211&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49211&la=de Wed, 03 Aug 2016 00:00:00 +0000 <![CDATA[Zech, M. et al. Large-scale TUBB4A mutational screening in isolated dystonia and controls. Parkinsonism Relat. Disord. 21, 1278-1281 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=46691&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=46691&la=de Wed, 02 Sep 2015 00:00:00 +0000 <![CDATA[Kaffe, M. et al. Mutational screening of THAP1 in a German population with primary dystonia. Parkinsonism Relat. Disord. 18, 104-106 (2012)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7106&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7106&la=de Wed, 08 Feb 2012 00:00:00 +0000 <![CDATA[* et al. PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease. Parkinsonism Relat. Disord. 15, 532-534 (2009)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=702&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=702&la=de Thu, 31 Dec 2009 00:00:00 +0000