PuSH - HMGU Publikationen https://push-zb.helmholtz-munich.de PuSH - Publikationen-Server des Helmholtz Zentrums München de-de <![CDATA[Horváth, V.B.* et al. Transaldolase deficiency – natural disease course towards adulthood. Mol. Genet. Metab. 148:109872 (2026)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=77199&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=77199&la=de Thu, 09 Apr 2026 00:00:00 +0000 <![CDATA[Hammann, N.* et al. Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease. Mol. Genet. Metab. 141:108118 (2024)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=69817&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=69817&la=de Mon, 22 Jan 2024 00:00:00 +0000 <![CDATA[Morales-Romero, B.* et al. Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing. Mol. Genet. Metab. 142:108511 (2024)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=70846&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=70846&la=de Fri, 19 Jul 2024 00:00:00 +0000 <![CDATA[van der Ven, A.T.* et al. Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease. Mol. Genet. Metab. 140:107675 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68003&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68003&la=de Fri, 06 Oct 2023 00:00:00 +0000 <![CDATA[Friederich, M.W.* et al. Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect. Mol. Genet. Metab. 133, 362-371 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62305&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62305&la=de Wed, 23 Jun 2021 00:00:00 +0000 <![CDATA[Conte, F.* et al. Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots. Mol. Genet. Metab. 131, 135-146 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60435&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60435&la=de Mon, 07 Dec 2020 00:00:00 +0000 <![CDATA[O'Byrne, J.J.* et al. The genotypic and phenotypic spectrum of MTO1 deficiency. Mol. Genet. Metab. 123, 28-42 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52731&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52731&la=de Tue, 16 Jan 2018 00:00:00 +0000 <![CDATA[Herebian, D.* et al. Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics. Mol. Genet. Metab. 121, 216-223 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51208&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51208&la=de Wed, 12 Jul 2017 00:00:00 +0000 <![CDATA[Falk, M.J.* et al. Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Mol. Genet. Metab. 114, 388-396 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=43030&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=43030&la=de Mon, 05 Jan 2015 00:00:00 +0000 <![CDATA[Banka, S.* et al. Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: A treatable neurological disorder caused by TPK1 mutations. Mol. Genet. Metab. 113, 301-306 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=42825&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=42825&la=de Wed, 26 Nov 2014 00:00:00 +0000 <![CDATA[Haack, T.B. et al. Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. Mol. Genet. Metab. 111, 342-352 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=30734&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=30734&la=de Thu, 06 Mar 2014 00:00:00 +0000 <![CDATA[Kraja, A.T.* et al. Pleiotropic genes for metabolic syndrome and inflammation. Mol. Genet. Metab. 112, 317-338 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=32402&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=32402&la=de Mon, 29 Sep 2014 00:00:00 +0000 <![CDATA[Danhauser, K. et al. Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency. Mol. Genet. Metab. 103, 161-166 (2011)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6708&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6708&la=de Mon, 28 Nov 2011 00:00:00 +0000 <![CDATA[John, G. et al. NKX2-3 variant rs11190140 is associated with IBD and alters binding of NFAT. Mol. Genet. Metab. 104, 174-179 (2011)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6494&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6494&la=de Wed, 14 Sep 2011 00:00:00 +0000 <![CDATA[Mayr, J.A.* et al. Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. Mol. Genet. Metab. 103, 358-361 (2011)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6750&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6750&la=de Fri, 02 Dec 2011 00:00:00 +0000 <![CDATA[Fisher, E.* et al. Evidence for the Thr79Met polymorphism of the ileal fatty acid binding protein (FABP6) to be associated with type 2 diabetes in obese individuals. Mol. Genet. Metab. 98, 400-405 (2009)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=709&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=709&la=de Thu, 31 Dec 2009 00:00:00 +0000 <![CDATA[Böhme, M.* et al. MTTP variants and body mass index, waist circumference and serum cholesterol level: Association analyses in 7582 participants of the KORA study cohort. Mol. Genet. Metab. 95, 229-232 (2008)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=85&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=85&la=de Fri, 11 Sep 2009 00:00:00 +0000 <![CDATA[Müller, T.D.* et al. No evidence for an involvement of variants in the cannabinoid receptor gene (CNR1) in obesity in German children and adolescents. Mol. Genet. Metab. 90, 429-434 (2007)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4166&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4166&la=de Fri, 23 Nov 2007 00:00:00 +0000