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Katja Steinbrücker

Showing results (1-10 of 8) with videos related to

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Neuropediatrics|October 12, 2022
Nicotinamide Riboside for Ataxia Telangiectasia: A Report of an Early Treated IndividualKatja Steinbrücker, Elke Tiefenthaler, Eva-Maria Schernthaner, et al.
Genes|December 23, 2022
A <i>TSHZ3</i> Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion SyndromeRené G Feichtinger, Martin Preisel, Katja Steinbrücker, et al.
Immunology Letters|November 18, 2024
Vaccine safety in children with genetically confirmed mitochondrial diseaseAnnemarie de Vreugd, Franz A Zimmermann, Katja Steinbrücker, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 10, 2025
Mitochondrial disorder diagnosis and management- what the pediatric neurologist wants to knowOliver Heath, René G Feichtinger, Melanie T Achleitner, et al.
Neuropediatrics|January 5, 2023
Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral PhenylalanineSusanne L Oswald, Katja Steinbrücker, Melanie T Achleitner, et al.
Molecular Metabolism|July 14, 2026
Biallelic TXNIP deficiency is associated with a multisystemic metabolic diseaseJulia-Josefine Scholz, Sharlaine Y L Piel, Ioannis Evangelakos, et al.
Nutrients|September 9, 2022
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate CarrierBigna K Bölsterli, Eugen Boltshauser, Luigi Palmieri, et al.
Annals of Neurology|December 26, 2021
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic PhenotypesMichael Zech, Robert Kopajtich, Katja Steinbrücker, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Neuropediatrics|October 12, 2022
Nicotinamide Riboside for Ataxia Telangiectasia: A Report of an Early Treated IndividualKatja Steinbrücker, Elke Tiefenthaler, Eva-Maria Schernthaner, et al.
Genes|December 23, 2022
A <i>TSHZ3</i> Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion SyndromeRené G Feichtinger, Martin Preisel, Katja Steinbrücker, et al.
Immunology Letters|November 18, 2024
Vaccine safety in children with genetically confirmed mitochondrial diseaseAnnemarie de Vreugd, Franz A Zimmermann, Katja Steinbrücker, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 10, 2025
Mitochondrial disorder diagnosis and management- what the pediatric neurologist wants to knowOliver Heath, René G Feichtinger, Melanie T Achleitner, et al.
Neuropediatrics|January 5, 2023
Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral PhenylalanineSusanne L Oswald, Katja Steinbrücker, Melanie T Achleitner, et al.
Molecular Metabolism|July 14, 2026
Biallelic TXNIP deficiency is associated with a multisystemic metabolic diseaseJulia-Josefine Scholz, Sharlaine Y L Piel, Ioannis Evangelakos, et al.
Nutrients|September 9, 2022
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate CarrierBigna K Bölsterli, Eugen Boltshauser, Luigi Palmieri, et al.
Annals of Neurology|December 26, 2021
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic PhenotypesMichael Zech, Robert Kopajtich, Katja Steinbrücker, et al.
Pageof 1