Rust S - Search Results

1

Mitochondrial DNA mutations in Medulloblastoma.

Funke VLE, Sandmann S, Melcher V, Seggewiss J, Horvath J, Jäger N, Kool M, Jones DTW, Pfister SM, Milde T, Rutkowski S, Mynarek M, Varghese J, Sträter R, Rust S, Seelhöfer A, Reunert J, Fiedler B, Schüller U, Marquardt T, Kerl K. Funke VLE, et al. Among authors: rust s. Acta Neuropathol Commun. 2023 Jul 27;11(1):124. doi: 10.1186/s40478-023-01602-0. Acta Neuropathol Commun. 2023. PMID: 37501103 Free PMC article.

2

Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.

Reunert J, Wentzell R, Walter M, Jakubiczka S, Zenker M, Brune T, Rust S, Marquardt T. Reunert J, et al. Among authors: rust s. Eur J Hum Genet. 2012 Sep;20(9):933-7. doi: 10.1038/ejhg.2012.36. Epub 2012 Mar 14. Eur J Hum Genet. 2012. PMID: 22419169 Free PMC article.

3

ALG1-CDG: a new case with early fatal outcome.

Rohlfing AK, Rust S, Reunert J, Tirre M, Du Chesne I, Wemhoff S, Meinhardt F, Hartmann H, Das AM, Marquardt T. Rohlfing AK, et al. Among authors: rust s. Gene. 2014 Jan 25;534(2):345-51. doi: 10.1016/j.gene.2013.10.013. Epub 2013 Oct 21. Gene. 2014. PMID: 24157261

4

Multiple phenotypes in phosphoglucomutase 1 deficiency.

Marquardt T, Morava E, Rust S. Marquardt T, et al. Among authors: rust s. N Engl J Med. 2014 May 22;370(21):2051-2. doi: 10.1056/NEJMc1403446. N Engl J Med. 2014. PMID: 24849093 Free article. No abstract available.

5

The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation.

Park JH, Zühlsdorf A, Wada Y, Roll C, Rust S, Du Chesne I, Grüneberg M, Reunert J, Marquardt T. Park JH, et al. Among authors: rust s. Clin Chim Acta. 2014 Sep 25;436:135-9. doi: 10.1016/j.cca.2014.05.011. Epub 2014 May 26. Clin Chim Acta. 2014. PMID: 24875750

6

Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation.

Zühlsdorf A, Park JH, Wada Y, Rust S, Reunert J, DuChesne I, Grüneberg M, Marquardt T. Zühlsdorf A, et al. Among authors: rust s. Clin Biochem. 2015 Jan;48(1-2):11-3. doi: 10.1016/j.clinbiochem.2014.09.022. Epub 2014 Oct 8. Clin Biochem. 2015. PMID: 25305627

7

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.

Dörre K, Olczak M, Wada Y, Sosicka P, Grüneberg M, Reunert J, Kurlemann G, Fiedler B, Biskup S, Hörtnagel K, Rust S, Marquardt T. Dörre K, et al. Among authors: rust s. J Inherit Metab Dis. 2015 Sep;38(5):931-40. doi: 10.1007/s10545-015-9828-6. Epub 2015 Mar 17. J Inherit Metab Dis. 2015. PMID: 25778940

8

Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Questions.

Park JH, Weissensteiner M, Wagner O, Wada Y, Rust S, Reunert J, Marquardt T. Park JH, et al. Among authors: rust s. Pediatr Nephrol. 2016 Aug;31(8):1281. doi: 10.1007/s00467-015-3071-0. Epub 2015 May 7. Pediatr Nephrol. 2016. PMID: 25947087 No abstract available.

9

Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers.

Park JH, Weissensteiner M, Wagner O, Wada Y, Rust S, Reunert J, Marquardt T. Park JH, et al. Among authors: rust s. Pediatr Nephrol. 2016 Aug;31(8):1283-6. doi: 10.1007/s00467-015-3070-1. Epub 2015 May 9. Pediatr Nephrol. 2016. PMID: 25956699 No abstract available.

10

TMEM165 Deficiency: Postnatal Changes in Glycosylation.

Schulte Althoff S, Grüneberg M, Reunert J, Park JH, Rust S, Mühlhausen C, Wada Y, Santer R, Marquardt T. Schulte Althoff S, et al. Among authors: rust s. JIMD Rep. 2016;26:21-9. doi: 10.1007/8904_2015_455. Epub 2015 Aug 4. JIMD Rep. 2016. PMID: 26238249 Free PMC article.

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