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Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
Forny P, Schumann A, Mustedanagic M, Mathis D, Wulf MA, Nägele N, Langhans CD, Zhakupova A, Heeren J, Scheja L, Fingerhut R, Peters HL, Hornemann T, Thony B, Kölker S, Burda P, Froese DS, Devuyst O, Baumgartner MR. Forny P, et al. Among authors: schumann a. J Biol Chem. 2016 Sep 23;291(39):20563-73. doi: 10.1074/jbc.M116.747717. Epub 2016 Aug 12. J Biol Chem. 2016. PMID: 27519416 Free PMC article.
Peritoneal dialysis: nanoparticles have entered the game.
Devuyst O, Schumann A. Devuyst O, et al. Among authors: schumann a. Perit Dial Int. 2015 May-Jun;35(3):240. doi: 10.3747/pdi.2015.00075. Perit Dial Int. 2015. PMID: 26015416 Free PMC article. No abstract available.
Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency.
Luciani A, Schumann A, Berquez M, Chen Z, Nieri D, Failli M, Debaix H, Festa BP, Tokonami N, Raimondi A, Cremonesi A, Carrella D, Forny P, Kölker S, Diomedi Camassei F, Diaz F, Moraes CT, Di Bernardo D, Baumgartner MR, Devuyst O. Luciani A, et al. Among authors: schumann a. Nat Commun. 2020 Feb 20;11(1):970. doi: 10.1038/s41467-020-14729-8. Nat Commun. 2020. PMID: 32080200 Free PMC article.
Author Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency.
Luciani A, Schumann A, Berquez M, Chen Z, Nieri D, Failli M, Debaix H, Festa BP, Tokonami N, Raimondi A, Cremonesi A, Carrella D, Forny P, Kölker S, Camassei FD, Diaz F, Moraes CT, Di Bernardo D, Baumgartner MR, Devuyst O. Luciani A, et al. Among authors: schumann a. Nat Commun. 2020 Apr 1;11(1):1719. doi: 10.1038/s41467-020-15565-6. Nat Commun. 2020. PMID: 32238804 Free PMC article.
Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise.
Dimitrov B, Molema F, Williams M, Schmiesing J, Mühlhausen C, Baumgartner MR, Schumann A, Kölker S. Dimitrov B, et al. Among authors: schumann a. J Inherit Metab Dis. 2021 Jan;44(1):9-21. doi: 10.1002/jimd.12254. Epub 2020 May 27. J Inherit Metab Dis. 2021. PMID: 32412122 Free article. Review.
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
Syeda SB, Lone MA, Mohassel P, Donkervoort S, Munot P, França MC Jr, Galarza-Brito JE, Eckenweiler M, Asamoah A, Gable K, Majumdar A, Schumann A, Gupta SD, Lakhotia A, Shieh PB, Foley AR, Jackson KE, Chao KR, Winder TL, Catapano F, Feng L, Kirschner J, Muntoni F, Dunn TM, Hornemann T, Bönnemann CG. Syeda SB, et al. Among authors: schumann a. J Neurol Neurosurg Psychiatry. 2024 Jan 11;95(2):103-113. doi: 10.1136/jnnp-2023-332132. J Neurol Neurosurg Psychiatry. 2024. PMID: 38041679 Free PMC article.
268 results