Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Seelhöfer A"'
Autor:
Katharina Heckmann, Arcangela Iuso, Janine Reunert, Marianne Grüneberg, Anja Seelhöfer, Stephan Rust, Giuseppe Fiermonte, Eleonora Paradies, Carmela Piazzolla, Manoj Mannil, Thorsten Marquardt
Publikováno v:
JIMD Reports, Vol 65, Iss 6, Pp 417-425 (2024)
Abstract SLC25A42 encodes the mitochondrial coenzyme A (CoA) transporter localized at the inner mitochondrial membrane. SLC25A42 deficiency leads to a congenital disease with a heterogeneous clinical presentation, including myopathy, developmental de
Externí odkaz:
https://doaj.org/article/ced1ad9d333f46d5ab7a3cd2c977283d
Autor:
Berendes, Lea-Sophie, Westhoff, Petra Schulze, Wittkowski, Helmut, Seelhöfer, Anja, Varga, Georg, Marquardt, Thorsten, Park, Julien H.
Publikováno v:
In Molecular Genetics and Metabolism Reports March 2024 38
Autor:
Viktoria L. E. Funke, Sarah Sandmann, Viktoria Melcher, Jochen Seggewiss, Judit Horvath, Natalie Jäger, Marcel Kool, David T. W. Jones, Stefan M. Pfister, Till Milde, Stefan Rutkowski, Martin Mynarek, Julian Varghese, Ronald Sträter, Stephan Rust, Anja Seelhöfer, Janine Reunert, Barbara Fiedler, Ulrich Schüller, Thorsten Marquardt, Kornelius Kerl
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-4 (2023)
Abstract To date, several studies on genomic events underlying medulloblastoma (MB) biology have expanded our understanding of this tumour entity and led to its division into four groups—WNT, SHH, group 3 (G3) and group 4 (G4). However, there is li
Externí odkaz:
https://doaj.org/article/4d42ac6cc3f343f1a26382b1265c71a1
Autor:
Lea-Sophie Berendes, Petra Schulze Westhoff, Helmut Wittkowski, Anja Seelhöfer, Georg Varga, Thorsten Marquardt, Julien H. Park
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101038- (2024)
Heme oxygenase 1 (HO-1) is the pivotal catalyst for the primary and rate-determining step in heme catabolism, playing a crucial role in mitigating heme-induced oxidative damage. Pathogenic variants in the HMOX1 gene which encodes HO-1, are responsibl
Externí odkaz:
https://doaj.org/article/6d2d3eb3c28949e88d9a15193434753f
Autor:
Heckmann, Katharina, Iuso, Arcangela, Reunert, Janine, Grüneberg, Marianne, Seelhöfer, Anja, Rust, Stephan, Fiermonte, Giuseppe, Paradies, Eleonora, Piazzolla, Carmela, Mannil, Manoj, Marquardt, Thorsten
Publikováno v:
Journal of Inherited Metabolic Disease Reports; Nov2024, Vol. 65 Issue 6, p417-425, 9p
Publikováno v:
Sports, Vol 11, Iss 10, p 198 (2023)
With Norway’s successes in middle and long-distance running, lactate-guided threshold training has regained importance in recent years. Therefore, the aim of the present study was to investigate the individual responses on common monitoring paramet
Externí odkaz:
https://doaj.org/article/a4bba0451437488aa1838765744577b1
Autor:
Aziza Miriam Belkheir, Janine Reunert, Christiane Elpers, Lambert van den Heuvel, Richard Rodenburg, Anja Seelhöfer, Stephan Rust, Astrid Jeibmann, Michael Frosch, Thorsten Marquardt
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
ßIV-spectrin is a protein of the spectrin family which is involved in the organization of the cytoskeleton structure and is found in high quantity in the axon initial segment and the nodes of Ranvier. Together with ankyrin G, ßIV-spectrin is respon
Externí odkaz:
https://doaj.org/article/5ea2c2d167bc4ff88f141e7678fb8989
Akademický článek
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Publikováno v:
Sports (2075-4663); Oct2023, Vol. 11 Issue 10, p198, 11p
Autor:
Ulrike Och, Anja Seelhöfer, Jana C. Hollenbeck, Melanie Meyer, Jörn Oliver Sass, Mechthild Linden, Stephan Rust, Saskia Biskup, Manfred Fobker, Janine Reunert, Thorsten Marquardt
Publikováno v:
Journal of Inherited Metabolic Disease
J Inherit Metab Dis. 2021;44:1323 – 1329
J Inherit Metab Dis. 2021;44:1323 – 1329
3-Hydroxyisobutyric acid (3HiB) is an intermediate in the degradation of the branched-chain amino acid valine. Disorders in valine degradation can lead to 3HiB accumulation and its excretion in the urine. This article describes the first two patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71fd2e7974eadd060ebd813102a0976f
https://doi.org/10.1002/jimd.12410
https://doi.org/10.1002/jimd.12410