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Year | Number of Results |
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2022 | 4 |
2023 | 2 |
2024 | 0 |
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Page 1
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Ann Neurol. 2022 Feb;91(2):225-237. doi: 10.1002/ana.26293. Epub 2022 Jan 20.
Ann Neurol. 2022.
PMID: 34954817
Free PMC article.
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
Bölsterli BK, Boltshauser E, Palmieri L, Spenger J, Brunner-Krainz M, Distelmaier F, Freisinger P, Geis T, Gropman AL, Häberle J, Hentschel J, Jeandidier B, Karall D, Keren B, Klabunde-Cherwon A, Konstantopoulou V, Kottke R, Lasorsa FM, Makowski C, Mignot C, O'Gorman Tuura R, Porcelli V, Santer R, Sen K, Steinbrücker K, Syrbe S, Wagner M, Ziegler A, Zöggeler T, Mayr JA, Prokisch H, Wortmann SB.
Bölsterli BK, et al. Among authors: steinbrucker k.
Nutrients. 2022 Aug 31;14(17):3605. doi: 10.3390/nu14173605.
Nutrients. 2022.
PMID: 36079864
Free PMC article.
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Nicotinamide Riboside for Ataxia Telangiectasia: A Report of an Early Treated Individual.
Steinbrücker K, Tiefenthaler E, Schernthaner EM, Jungwirth J, Wortmann SB.
Steinbrücker K, et al.
Neuropediatrics. 2023 Feb;54(1):78-81. doi: 10.1055/a-1959-9404. Epub 2022 Oct 12.
Neuropediatrics. 2023.
PMID: 36223879
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Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine.
Oswald SL, Steinbrücker K, Achleitner MT, Göschl E, Bittner RE, Schmidt WM, Tiefenthaler E, Hammerl E, Eisl A, Mayr D, Mayr JA, Wortmann SB.
Oswald SL, et al. Among authors: steinbrucker k.
Neuropediatrics. 2023 Oct;54(5):351-355. doi: 10.1055/a-2008-4230. Epub 2023 Jan 5.
Neuropediatrics. 2023.
PMID: 36603837
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A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome.
Feichtinger RG, Preisel M, Steinbrücker K, Brugger K, Radda A, Wortmann SB, Mayr JA.
Feichtinger RG, et al. Among authors: steinbrucker k.
Genes (Basel). 2022 Nov 23;13(12):2191. doi: 10.3390/genes13122191.
Genes (Basel). 2022.
PMID: 36553458
Free PMC article.
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