Schlotawa L - Search Results

1

Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation.

Schlotawa L, Hotz A, Zeschnigk C, Hartmann B, Gärtner J, Morris-Rosendahl D. Schlotawa L, et al. J Neurol. 2013 Jun;260(6):1678-80. doi: 10.1007/s00415-013-6941-z. Epub 2013 May 14. J Neurol. 2013. PMID: 23670308 No abstract available.

2

An inducible expression system for the manipulation of autophagic flux in vivo.

Schlotawa L, Lopez A, Sanchez-Elexpuru G, Tyrkalska SD, Rubinsztein DC, Fleming A. Schlotawa L, et al. Autophagy. 2023 May;19(5):1582-1595. doi: 10.1080/15548627.2022.2135824. Epub 2022 Oct 30. Autophagy. 2023. PMID: 36310368 Free PMC article.

3

The expanding clinical and genetic spectrum of ATP1A3-related disorders.

Rosewich H, Ohlenbusch A, Huppke P, Schlotawa L, Baethmann M, Carrilho I, Fiori S, Lourenço CM, Sawyer S, Steinfeld R, Gärtner J, Brockmann K. Rosewich H, et al. Among authors: schlotawa l. Neurology. 2014 Mar 18;82(11):945-55. doi: 10.1212/WNL.0000000000000212. Epub 2014 Feb 12. Neurology. 2014. PMID: 24523486

4

Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.

Schlotawa L, Steinfeld R, von Figura K, Dierks T, Gärtner J. Schlotawa L, et al. Hum Mutat. 2008 Jan;29(1):205. doi: 10.1002/humu.9515. Hum Mutat. 2008. PMID: 18157819

5

SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.

Schlotawa L, Ennemann EC, Radhakrishnan K, Schmidt B, Chakrapani A, Christen HJ, Moser H, Steinmann B, Dierks T, Gärtner J. Schlotawa L, et al. Eur J Hum Genet. 2011 Mar;19(3):253-61. doi: 10.1038/ejhg.2010.219. Epub 2011 Jan 12. Eur J Hum Genet. 2011. PMID: 21224894 Free PMC article.

6

Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.

Schlotawa L, Radhakrishnan K, Baumgartner M, Schmid R, Schmidt B, Dierks T, Gärtner J. Schlotawa L, et al. Eur J Hum Genet. 2013 Sep;21(9):1020-3. doi: 10.1038/ejhg.2012.291. Epub 2013 Jan 16. Eur J Hum Genet. 2013. PMID: 23321616 Free PMC article.

7

Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.

Schlotawa L, Dierks T, Christoph S, Cloppenburg E, Ohlenbusch A, Korenke GC, Gärtner J. Schlotawa L, et al. JIMD Rep. 2019 Aug 20;49(1):48-52. doi: 10.1002/jmd2.12074. eCollection 2019 Sep. JIMD Rep. 2019. PMID: 31497481 Free PMC article.

8

Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microglia.

Weber T, Schlotawa L, Dosch R, Hamilton N, Kaiser J, Schiller S, Wenske B, Gärtner J, Henneke M. Weber T, et al. Among authors: schlotawa l. Biol Open. 2020 May 7;9(5):bio049239. doi: 10.1242/bio.049239. Biol Open. 2020. PMID: 32295832 Free PMC article.

9

A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.

Schlotawa L, Preiskorn J, Ahrens-Nicklas R, Schiller S, Adang LA, Gärtner J, Friede T. Schlotawa L, et al. J Inherit Metab Dis. 2020 Nov;43(6):1288-1297. doi: 10.1002/jimd.12282. Epub 2020 Jul 22. J Inherit Metab Dis. 2020. PMID: 32621519

10

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.

Adang LA, Schlotawa L, Groeschel S, Kehrer C, Harzer K, Staretz-Chacham O, Silva TO, Schwartz IVD, Gärtner J, De Castro M, Costin C, Montgomery EF, Dierks T, Radhakrishnan K, Ahrens-Nicklas RC. Adang LA, et al. Among authors: schlotawa l. J Inherit Metab Dis. 2020 Nov;43(6):1298-1309. doi: 10.1002/jimd.12298. Epub 2020 Aug 20. J Inherit Metab Dis. 2020. PMID: 32749716 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

34 results

Search Page

Filters