PuSH - HMGU Publikationen https://push-zb.helmholtz-munich.de PuSH - Publikationen-Server des Helmholtz Zentrums München de-de <![CDATA[Saparov, A. et al. Fibroblast transcriptomics in molecular diagnostics of a comprehensive dystonia cohort. Ann. Neurol., DOI: 10.1002/ana.78171 (2026)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=76781&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=76781&la=de Wed, 18 Mar 2026 00:00:00 +0000 <![CDATA[Brooker, S.M.* et al. The spectrum of neurologic phenotypes associated with NUS1 pathogenic variants: A comprehensive case series. Ann. Neurol., DOI: 10.1002/ana.27272 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=75044&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=75044&la=de Wed, 16 Jul 2025 00:00:00 +0000 <![CDATA[Kaymak, A.* et al. Spiking patterns in the globus pallidus highlight convergent neural dynamics across diverse genetic dystonia syndromes. Ann. Neurol. 97, 826-844 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73238&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73238&la=de Thu, 27 Mar 2025 00:00:00 +0000 <![CDATA[Sorrentino, U.* ; O'Neill, A.G.* ; Kollman, J.M.* ; Jinnah, H.A.* & Zech, M. Purine metabolism and dystonia: Perspectives of a long-promised relationship. Ann. Neurol. 97, 809-825 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73573&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73573&la=de Mon, 05 May 2025 00:00:00 +0000 <![CDATA[Svorenova, T.* et al. Deep brain stimulation for VPS16-related dystonia: A multicenter study. Ann. Neurol., DOI: 10.1002/ana.27290 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=74987&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=74987&la=de Tue, 15 Jul 2025 00:00:00 +0000 <![CDATA[Blackburn, P.R.* et al. Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder. Ann. Neurol., DOI: 10.1002/ana.27077 (2024)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=71777&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=71777&la=de Fri, 11 Oct 2024 00:00:00 +0000 <![CDATA[Harrer, P. et al. Recessive NUP54 variants underlie early-onset dystonia with striatal lesions. Ann. Neurol. 93, 330-335 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=66606&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=66606&la=de Sat, 03 Dec 2022 00:00:00 +0000 <![CDATA[Stenton, S. et al. Leigh syndrome: A study of 209 patients at the Beijing Children's Hospital. Ann. Neurol. 91, 466-482 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=64259&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=64259&la=de Thu, 21 Apr 2022 00:00:00 +0000 <![CDATA[Zech, M. et al. Variants in mitochondrial ATP synthase cause variable neurologic phenotypes. Ann. Neurol. 91, 225-237 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=63869&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=63869&la=de Mon, 31 Jan 2022 00:00:00 +0000 <![CDATA[Musacchio, T.* ; Zech, M. ; Reich, M.M.* ; Winkelmann, J. & Volkmann, J.* A recurrent EIF2AK2 missense variant causes autosomal-dominant isolated dystonia. Ann. Neurol. 89, 1257-1258 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61837&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61837&la=de Tue, 08 Jun 2021 00:00:00 +0000 <![CDATA[Schänzer, A.* et al. Mutations in HID1 cause syndromic infantile encephalopathy and hypopituitarism. Ann. Neurol. 90, 143-158 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62104&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62104&la=de Fri, 28 May 2021 00:00:00 +0000 <![CDATA[Stenton, S. ; Zou, Y.* ; Cheng, H.* ; Prokisch, H. & Fang, F.* Pediatric leigh syndrome: Neuroimaging features and genetic correlations. Ann. Neurol. 88, 218-232 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60964&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60964&la=de Tue, 12 Jan 2021 00:00:00 +0000 <![CDATA[Zech, M. ; Steel, D.* ; Kurian, M.A.* & Winkelmann, J. Reply to "Truncating VPS16 mutations are rare in early-onset dystonia". Ann. Neurol. 89:626 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60759&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60759&la=de Mon, 22 Mar 2021 00:00:00 +0000 <![CDATA[Steel, D.* et al. Loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early onset dystonia associated with lysosomal abnormalities. Ann. Neurol. 88, 867-877 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59922&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59922&la=de Mon, 19 Oct 2020 00:00:00 +0000 <![CDATA[Tiedt, S.* et al. Circulating metabolites differentiate acute ischemic stroke from stroke mimics. Ann. Neurol. 88, 736-746 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59839&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59839&la=de Mon, 21 Sep 2020 00:00:00 +0000 <![CDATA[Tilch, E. et al. Identification of restless legs syndrome genes by mutational load analysis. Ann. Neurol. 87, 184-193 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57501&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57501&la=de Fri, 06 Dec 2019 00:00:00 +0000 <![CDATA[Gauthier, J.* et al. Recessive mutations in > VPS13D cause childhood onset movement disorders. Ann. Neurol. 83, 1089-1095 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53217&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53217&la=de Wed, 21 Mar 2018 00:00:00 +0000 <![CDATA[Jende, J.M.E.* et al. Diabetic neuropathy differs between type 1 and type 2 diabetes: Insights from magnetic resonance neurography. Ann. Neurol. 83, 588-598 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53265&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53265&la=de Thu, 24 May 2018 00:00:00 +0000 <![CDATA[Spadaro, M.* et al. Pathogenicity of human antibodies against myelin oligodendrocyte glycoprotein. Ann. Neurol. 84, 315-328 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53956&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53956&la=de Thu, 19 Jul 2018 00:00:00 +0000 <![CDATA[Maas, R.R.* et al. Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases. Ann. Neurol. 82, 1004-1015 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52594&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52594&la=de Mon, 29 Jan 2018 00:00:00 +0000 <![CDATA[Escott-Price, V.* et al. Polygenic risk of Parkinson disease is correlated with disease age at onset. Ann. Neurol. 77, 582-591 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=44464&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=44464&la=de Fri, 24 Apr 2015 00:00:00 +0000 <![CDATA[Schirmer, L.* et al. Differential loss of KIR4.1 immunoreactivity in multiple sclerosis lesions. Ann. Neurol. 75, 810-828 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31892&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31892&la=de Mon, 11 Aug 2014 00:00:00 +0000 <![CDATA[Buck, D.* et al. Genetic variants in the immunoglobulin heavy chain locus are associated with the IgG index in multiple sclerosis. Ann. Neurol. 73, 86-94 (2013)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=23006&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=23006&la=de Mon, 04 Mar 2013 00:00:00 +0000 <![CDATA[Flinn, L.J.* et al. TigarB causes mitochondrial dysfunction and neuronal loss in PINK1 deficiency. Ann. Neurol. 74, 837-847 (2013)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=30788&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=30788&la=de Mon, 17 Mar 2014 00:00:00 +0000 <![CDATA[Elstner, M. et al. Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Ann. Neurol. 66, 792-798 (2009)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=936&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=936&la=de Thu, 31 Dec 2009 00:00:00 +0000 <![CDATA[Gschwendtner, A.* et al. Sequence variants on chromosome 9p21.3 confer risk for atherosclerotic stroke. Ann. Neurol. 65, 531-539 (2009)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=1093&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=1093&la=de Thu, 09 Jul 2009 00:00:00 +0000 <![CDATA[Scholz, S.W.* et al. SNCA variants are associated with increased risk for multiple system atrophy. Ann. Neurol. 65, 610-614 (2009)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=1091&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=1091&la=de Thu, 09 Jul 2009 00:00:00 +0000 <![CDATA[Gretarsdottir, S.* & Gieger, C. Risk Variants for Atrial Fibrillation on Chromosome 4q24 Associate with Ischemic Stroke. Ann. Neurol. 64, 402-409 (2008)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4685&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4685&la=de Wed, 31 Dec 2008 00:00:00 +0000 <![CDATA[Hartig, M.B. et al. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann. Neurol. 59, 248-256 (2006)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=1554&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=1554&la=de Tue, 04 Apr 2006 00:00:00 +0000 <![CDATA[Biskup, S. et al. Common variants of LRRK2 are not associated with sporadic parkinson's disease. Ann. Neurol. 58, 905-908 (2005)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4799&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4799&la=de Tue, 13 Dec 2005 00:00:00 +0000 <![CDATA[Mueller, J.C. et al. Multiple regions of alpha-synuclein are associated with parkinson's disease. Ann. Neurol. 57, 535-541 (2005)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4195&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4195&la=de Wed, 10 Aug 2005 00:00:00 +0000 <![CDATA[Asmus, F.* et al. Myoclonus-Dystonia Syndrome : e-Sarcoglycan Mutations and Phenotype. Ann. Neurol. 52, 489-492 (2002)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=22005&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=22005&la=de Mon, 02 Dec 2002 00:00:00 +0000