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Page 1
L-Fucose treatment of FUT8-CDG.
Park JH, Reunert J, He M, Mealer RG, Noel M, Wada Y, Grüneberg M, Horváth J, Cummings RD, Schwartz O, Marquardt T. Park JH, et al. Among authors: schwartz o. Mol Genet Metab Rep. 2020 Dec 5;25:100680. doi: 10.1016/j.ymgmr.2020.100680. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33312876 Free PMC article.
Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG).
Kemme L, Grüneberg M, Reunert J, Rust S, Park J, Westermann C, Wada Y, Schwartz O, Marquardt T. Kemme L, et al. Among authors: schwartz o. JIMD Rep. 2021 Mar 20;60(1):42-55. doi: 10.1002/jmd2.12213. eCollection 2021 Jul. JIMD Rep. 2021. PMID: 34258140 Free PMC article.
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.
Park JH, Elpers C, Reunert J, McCormick ML, Mohr J, Biskup S, Schwartz O, Rust S, Grüneberg M, Seelhöfer A, Schara U, Boltshauser E, Spitz DR, Marquardt T. Park JH, et al. Among authors: schwartz o. Brain. 2019 Aug 1;142(8):2230-2237. doi: 10.1093/brain/awz182. Brain. 2019. PMID: 31332433 Free PMC article.
Characteristic clinical and ultrastructural findings in nesprinopathies.
Kölbel H, Abicht A, Schwartz O, Katona I, Paulus W, Neuen-Jacob E, Weis J, Schara U. Kölbel H, et al. Among authors: schwartz o. Eur J Paediatr Neurol. 2019 Mar;23(2):254-261. doi: 10.1016/j.ejpn.2018.12.011. Epub 2018 Dec 29. Eur J Paediatr Neurol. 2019. PMID: 30626539
One Year of Newborn Screening for SMA - Results of a German Pilot Project.
Vill K, Kölbel H, Schwartz O, Blaschek A, Olgemöller B, Harms E, Burggraf S, Röschinger W, Durner J, Gläser D, Nennstiel U, Wirth B, Schara U, Jensen B, Becker M, Hohenfellner K, Müller-Felber W. Vill K, et al. Among authors: schwartz o. J Neuromuscul Dis. 2019;6(4):503-515. doi: 10.3233/JND-190428. J Neuromuscul Dis. 2019. PMID: 31594245 Free PMC article.
Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?
Müller-Felber W, Vill K, Schwartz O, Gläser D, Nennstiel U, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Müller C, Hannibal I, Olgemöller B, Schara U, Blaschek A, Kölbel H. Müller-Felber W, et al. Among authors: schwartz o. J Neuromuscul Dis. 2020;7(2):109-117. doi: 10.3233/JND-200475. J Neuromuscul Dis. 2020. PMID: 32144995 Free PMC article.
[Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec-AVXS-101 : Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM)].
Ziegler A, Wilichowski E, Schara U, Hahn A, Müller-Felber W, Johannsen J, von der Hagen M, von Moers A, Stoltenburg C, Saffari A, Walter MC, Husain RA, Pechmann A, Köhler C, Horber V, Schwartz O, Kirschner J. Ziegler A, et al. Among authors: schwartz o. Nervenarzt. 2020 Jun;91(6):518-529. doi: 10.1007/s00115-020-00919-8. Nervenarzt. 2020. PMID: 32394004 Review. German.
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years.
Vill K, Schwartz O, Blaschek A, Gläser D, Nennstiel U, Wirth B, Burggraf S, Röschinger W, Becker M, Czibere L, Durner J, Eggermann K, Olgemöller B, Harms E, Schara U, Kölbel H, Müller-Felber W. Vill K, et al. Among authors: schwartz o. Orphanet J Rare Dis. 2021 Mar 31;16(1):153. doi: 10.1186/s13023-021-01783-8. Orphanet J Rare Dis. 2021. PMID: 33789695 Free PMC article.
607 results