PuSH - HMGU Publikationen https://push-zb.helmholtz-munich.de PuSH - Publikationen-Server des Helmholtz Zentrums München de-de <![CDATA[Nakamura, K.* et al. Identification of intronic variants in NDUFA3 as a cause of leigh syndrome by whole genome sequencing and RNA sequencing. Neurol. Genet. 12:e200330 (2026)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=76303&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=76303&la=de Mon, 15 Dec 2025 00:00:00 +0000 <![CDATA[Krenn, M.* et al. Holistic exome-based genetic testing in adults with epilepsy. Neurol. Genet. 11:e200260 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=74364&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=74364&la=de Sat, 10 May 2025 00:00:00 +0000 <![CDATA[Hildebrand, M.S.* et al. Inherited PURA pathogenic variant associated with a mild neurodevelopmental disorder. Neurol. Genet. 10:e200181 (2024)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=71461&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=71461&la=de Mon, 30 Sep 2024 00:00:00 +0000 <![CDATA[Indelicato, E.* et al. New-onset refractory status epilepticus due to a novel MT-TF variant: Time for acute genetic testing before treatment? Neurol. Genet. 9:e200063 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67674&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67674&la=de Fri, 06 Oct 2023 00:00:00 +0000 <![CDATA[Neuhofer, C.M.* et al. LINS1-associated neurodevelopmental disorder family with novel mutation expands the phenotypic spectrum. Neurol. Genet. 6:e500 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60530&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60530&la=de Mon, 16 Nov 2020 00:00:00 +0000 <![CDATA[Radelfahr, F.* et al. Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis. Neurol. Genet. 6:e525 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61160&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61160&la=de Thu, 04 Feb 2021 00:00:00 +0000 <![CDATA[Stendel, C.* et al. Delineating MT-ATP6-associated disease. Neurol. Genet. 6:e393 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=58673&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=58673&la=de Tue, 19 May 2020 00:00:00 +0000 <![CDATA[Johannesen, K.* et al. Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy. Neurol. Genet. 5:e373 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=58480&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=58480&la=de Fri, 28 Feb 2020 00:00:00 +0000 <![CDATA[Krenn, M.* et al. Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing. Neurol. Genet. 5:e346 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56927&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56927&la=de Tue, 24 Sep 2019 00:00:00 +0000 <![CDATA[Pulit, S.L.* et al. Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes. Neurol. Genet. 4:e293 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56149&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56149&la=de Mon, 27 May 2019 00:00:00 +0000 <![CDATA[Reinthaler, E.M.* et al. TPP2 mutation associated with sterile brain inflammation mimicking MS. Neurol. Genet. 4:e285 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54930&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54930&la=de Thu, 20 Dec 2018 00:00:00 +0000 <![CDATA[Lesage, S.* et al. Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. Neurol. Genet. 1:e9 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=48653&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=48653&la=de Wed, 25 May 2016 00:00:00 +0000