Search Results - "Rust, Stephan"

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A mutation in the neonatal isoform of SCN2A causes neonatal‐onset epilepsy.

Authors: Penkl, Anja Reunert, Janine Debus, Otfried M. et al.

Source: American Journal of Medical Genetics. Part A; Mar2022, Vol. 188 Issue 3, p941-947, 7p

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Cerebro‐oculo‐facio‐skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.

Authors: Reunert, Janine Heuvel, Alijda Rust, Stephan et al.

Source: American Journal of Medical Genetics. Part A; Mar2021, Vol. 185 Issue 3, p930-936, 7p

SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.

Authors: Park, Julien H Elpers, Christiane Reunert, Janine et al.

Source: Brain: A Journal of Neurology; Aug2019, Vol. 142 Issue 8, p2230-2237, 8p

Transient N‐glycosylation abnormalities likely due to a de novo loss‐of‐function mutation in the delta subunit of coat protein I.

Authors: Reunert, Janine Rust, Stephan Grüneberg, Marianne et al.

Source: American Journal of Medical Genetics. Part A; Jul2019, Vol. 179 Issue 7, p1371-1375, 5p

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SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause.

Authors: Arlt, Annabelle Akova-Öztürk, Esra Schirmacher, Anja et al.

Source: Journal of Neurogenetics. Jun2024, Vol. 38 Issue 2, p35-40. 6p.

Mitochondrial DNA mutations in Medulloblastoma.

Authors: Funke, Viktoria L. E. Sandmann, Sarah Melcher, Viktoria et al.

Source: Acta Neuropathologica Communications. 7/27/2023, Vol. 11 Issue 1, p1-4. 4p.

Uridine Treatment of the First Known Case of SLC25A36 Deficiency.

Authors: Jasper, Luisa Scarcia, Pasquale Rust, Stephan et al.

Source: International Journal of Molecular Sciences. Sep2021, Vol. 22 Issue 18, p9929. 1p.

Cystinosis treatment: Kinetics of different cysteamine formulations and fluctuations of intracellular cystine levels.

Authors: Marquardt, Thorsten Rust, Stephan

Source: Molecular Genetics & Metabolism. Feb2015, Vol. 114 Issue 2, pS77-S77. 1p.

Cystinosis: Missing the diagnosis for more than 50 years.

Authors: Marquardt, Thorsten Rust, Stephan

Source: Molecular Genetics & Metabolism. Feb2015, Vol. 114 Issue 2, pS77-S77. 1p.

Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers.

Authors: Park, Julien Weissensteiner, Martin Wagner, Oliver et al.

Source: Pediatric Nephrology. Aug2016, Vol. 31 Issue 8, p1283-1286. 4p. 2 Color Photographs, 1 Graph.

Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.

Authors: Reunert, Janine Wentzell, Rüdiger Walter, Michael et al.

Source: European Journal of Human Genetics. Sep2012, Vol. 20 Issue 9, p933-937. 5p. 1 Color Photograph, 1 Black and White Photograph, 1 Diagram, 1 Chart, 1 Graph.

Multiple QTL influence the serum Lp(a) concentration: a genome-wide linkage screen in the PROCARDIS study.

Authors: Barlera, Simona Specchia, Claudia Farrall, Martin et al.

Source: European Journal of Human Genetics. Feb2007, Vol. 15 Issue 2, p221-227. 7p. 3 Charts, 2 Graphs.

Genome-Wide Mapping of Susceptibility to Coronary Artery Disease Identifies a Novel Replicated Locus on Chromosome 17.

Authors: Farrall, Martin Green, Fiona R. Peden, John F. et al.

Source: PLoS Genetics. May2006, Vol. 2 Issue 5, pe72-0761. 7p. 2 Charts, 7 Graphs.