PuSH - HMGU Publikationen https://push-zb.helmholtz-munich.de PuSH - Publikationen-Server des Helmholtz Zentrums München de-de <![CDATA[Liu, Z.* et al. RNA sequencing resolves cryptic pathogenic variants in mitochondrial disease. Ann. Clin. Transl. Neurol., DOI: 10.1002/acn3.70379 (2026)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=77627&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=77627&la=de Wed, 13 May 2026 00:00:00 +0000 <![CDATA[Hartung, T.J.* et al. Post-COVID fatigue is associated with reduced cortical thickness after hospitalization. Ann. Clin. Transl. Neurol., DOI: 10.1002/acn3.70260 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=76131&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=76131&la=de Wed, 26 Nov 2025 00:00:00 +0000 <![CDATA[Cavestro, C.* et al. Emerging variants, unique phenotypes, and transcriptomic signatures: An integrated study of COASY-associated diseases. Ann. Clin. Transl. Neurol. 11, 1615-1629 (2024)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=70690&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=70690&la=de Wed, 26 Jun 2024 00:00:00 +0000 <![CDATA[Parvizi, T.* et al. Clinical heterogeneity within the ALS-FTD spectrum in a family with a homozygous optineurin mutation. Ann. Clin. Transl. Neurol. 11, 1579-1589 (2024)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=70631&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=70631&la=de Thu, 20 Jun 2024 00:00:00 +0000 <![CDATA[Škorvánek, M.* ; Jech, R.* ; Winkelmann, J. & Zech, M. Progressive choreodystonia in X-linked hyper-IgM immunodeficiency: A rare but recurrent presentation. Ann. Clin. Transl. Neurol. 9, 577-581 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=64586&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=64586&la=de Thu, 14 Jul 2022 00:00:00 +0000 <![CDATA[Brugger, M.* et al. A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy. Ann. Clin. Transl. Neurol. 8, 278-283 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60624&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60624&la=de Wed, 09 Dec 2020 00:00:00 +0000 <![CDATA[Doummar, D.* et al. Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8. Ann. Clin. Transl. Neurol., DOI: 10.1002/acn3.51444 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62838&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62838&la=de Tue, 21 Sep 2021 00:00:00 +0000 <![CDATA[Dzinovic, I. et al. Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome. Ann. Clin. Transl. Neurol. 8, 951-955 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61444&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61444&la=de Tue, 27 Apr 2021 00:00:00 +0000 <![CDATA[Brunet, T. et al. Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder. Ann. Clin. Transl. Neurol. 7, 390-396 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=58486&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=58486&la=de Wed, 25 Mar 2020 00:00:00 +0000 <![CDATA[Werning, M.* et al. PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes. Ann. Clin. Transl. Neurol. 7, 1340-1351 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59767&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59767&la=de Fri, 02 Oct 2020 00:00:00 +0000 <![CDATA[Krenn, M.* et al. Biallelic mutations in PIGP cause developmental and epileptic encephalopathy. Ann. Clin. Transl. Neurol. 6, 968-973 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56182&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56182&la=de Wed, 05 Jun 2019 00:00:00 +0000 <![CDATA[Krenn, M.* et al. Phenotypic variability of GABRA1-related epilepsy in monozygotic twins. Ann. Clin. Transl. Neurol. 6, 2317-2322 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56992&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56992&la=de Wed, 02 Oct 2019 00:00:00 +0000 <![CDATA[Park, J.* et al. KCNC1-related disorders: New de novo variants expand the phenotypic spectrum. Ann. Clin. Transl. Neurol. 6, 1319-1326 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56384&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56384&la=de Mon, 01 Jul 2019 00:00:00 +0000 <![CDATA[Haack, T.B. et al. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Ann. Clin. Transl. Neurol. 2, 492-509 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=44911&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=44911&la=de Sun, 24 May 2015 00:00:00 +0000