PuSH - HMGU Publikationen https://push-zb.helmholtz-munich.de PuSH - Publikationen-Server des Helmholtz Zentrums München de-de <![CDATA[Engel, J.M.* ; Dzinovic, I. ; Zech, M. & Janzarik, W.G.* Novel pathogenic GCH1 variant in familial Dopa-responsive dystonia. Neuropediatrics, DOI: 10.1055/a-2747-7443 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=76041&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=76041&la=de Tue, 18 Nov 2025 00:00:00 +0000 <![CDATA[Oberlack, A.* & Wagner, M. Genetic variants and disease mechanisms - Lessons from monogenic childhood epilepsies. Neuropediatrics, DOI: 10.1055/a-2731-5130 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=75881&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=75881&la=de Wed, 29 Oct 2025 00:00:00 +0000 <![CDATA[Fearns, N.* et al. Good outcome of resective epilepsy surgery in a one-year-old child with drug-resistant focal epilepsy with a novel pathogenic COL4A1 mutation. Neuropediatrics, DOI: 10.1055/a-2236-7066 (2024)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=69847&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=69847&la=de Mon, 29 Jan 2024 00:00:00 +0000 <![CDATA[Gebert, J.* et al. A Homozygous PTRHD1 missense variant (p.Arg122Gln) in an individual with intellectual disability, generalized epilepsy, and juvenile parkinsonism. Neuropediatrics 55, 209-212 (2024)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=69905&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=69905&la=de Fri, 19 Apr 2024 00:00:00 +0000 <![CDATA[Jacob, M.* et al. Genome sequencing for cases unsolved by exome sequencing: Identifying a single-exon deletion in TBCK in a case from 30 years ago. Neuropediatrics, DOI: 10.1055/s-0044-1782680 (2024)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=70373&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=70373&la=de Tue, 21 May 2024 00:00:00 +0000 <![CDATA[Borggraefe, I.* & Wagner, M. Precision therapy in KCNQ2-related epilepsy. Neuropediatrics 54, 295-296 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68250&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68250&la=de Wed, 18 Oct 2023 00:00:00 +0000 <![CDATA[Thiels, C.* et al. ACOX1 gain-of-function variant in two German pediatric patients, in one case mimicking autoimmune inflammatory disease. Neuropediatrics, DOI: 10.1055/s-0043-1776013 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68645&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68645&la=de Tue, 28 Nov 2023 00:00:00 +0000 <![CDATA[Švantnerová, J.* et al. ASXL3 de novo variant-related neurodevelopmental disorder presenting as dystonic cerebral palsy. Neuropediatrics 53, 361-365 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=65759&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=65759&la=de Thu, 03 Nov 2022 00:00:00 +0000 <![CDATA[Trieschmann, G.* et al. A novel homozygous PDE 10A variant leading to infantile onset hyperkinesia. Neuropediatrics 53, 386-387 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=65663&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=65663&la=de Mon, 31 Oct 2022 00:00:00 +0000 <![CDATA[Bölsterli, B.K.* et al. Mitochondrial transporter defects: Successful treatment with ketogenic diet therapy Vortrag: (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=66658&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=66658&la=de Wed, 16 Nov 2022 00:00:00 +0000 <![CDATA[Schmid, S.J.* et al. A de novo dominant negative mutation in DNM1L causes sudden onset status epilepticus with subsequent epileptic encephalopathy. Neuropediatrics 50, 197-201 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55917&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55917&la=de Thu, 16 May 2019 00:00:00 +0000 <![CDATA[Stendel, C.* ; Wagner, M. ; Rudolph, G.* & Klopstock, T.* Gillespie's syndrome with minor cerebellar involvement and no intellectual disability associated with a novel ITPR1 mutation: Report of a case and literature review. Neuropediatrics 50, 382-386 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56619&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56619&la=de Wed, 07 Aug 2019 00:00:00 +0000 <![CDATA[Alhaddad, B.* et al. PRUNE1 deficiency: Expanding the clinical and genetic spectrum. Neuropediatrics 49, 330-338 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53868&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53868&la=de Mon, 09 Jul 2018 00:00:00 +0000 <![CDATA[Kovács-Nagy, R.* et al. HTRA2 defect: A recognizable inborn error of metabolism with 3-methylglutaconic aciduria as discriminating feature characterized by neonatal movement disorder and epilepsy-report of 11 patients. Neuropediatrics 49, 373-378 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54758&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54758&la=de Sun, 18 Nov 2018 00:00:00 +0000 <![CDATA[Wagner, M. et al. Biallelic mutations in SLC1A2; an additional mode of inheritance for SLC1A2-related epilepsy. Neuropediatrics 49, 59-62 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51898&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51898&la=de Mon, 25 Sep 2017 00:00:00 +0000 <![CDATA[Westphal, D.S. et al. A de novo missense variant in POU3F2 identified in a child with global developmental delay. Neuropediatrics 49, 401-404 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54728&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54728&la=de Thu, 15 Nov 2018 00:00:00 +0000 <![CDATA[Sequeira, S.* ; Rodrigues, M.* ; Jacinto, S.* ; Wevers, R.A.* & Wortmann, S.B. MEGDEL syndrome: Expanding the phenotype and new mutations. Neuropediatrics 48, 382-384 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51189&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51189&la=de Wed, 07 Jun 2017 00:00:00 +0000 <![CDATA[Wortmann, S.B. ; Mayr, J.A.* ; Nuoffer, J.M.* ; Prokisch, H. & Sperl, W.* A guideline for the diagnosis of pediatric mitochondrial disease: The value of muscle and skin biopsies in the genetics era. Neuropediatrics 48, 309-314 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51411&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51411&la=de Thu, 20 Jul 2017 00:00:00 +0000 <![CDATA[Jung, N.H.* et al. German translation of the caregiver priorities and child health index of life with disabilities questionnaire: Test-retest reliability and correlation with gross motor function in children with cerebral palsy. Neuropediatrics 45, 289-293 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31002&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31002&la=de Sun, 06 Apr 2014 00:00:00 +0000 <![CDATA[Herzer, M. et al. Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect. Neuropediatrics 41, 30-34 (2010)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=5930&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=5930&la=de Fri, 15 Oct 2010 00:00:00 +0000 <![CDATA[Baumeister, F.A.M.* ; Auer, D.P.* ; Hörtnagel, K. ; Freisinger, P.* & Meitinger, T. The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome. Neuropediatrics 36, 221-222 (2005)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2758&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2758&la=de Wed, 28 Sep 2005 00:00:00 +0000 <![CDATA[Bugiani, M.* et al. Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts. Neuropediatrics 34, 211-214 (2003)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=23558&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=23558&la=de Wed, 31 Dec 2003 00:00:00 +0000