Steinfeld R - Search Results

1

Meyer S, Yilmaz U, Kim YJ, Steinfeld R, Meyberg-Solomayer G, Oehl-Jaschkowitz B, Tzschach A, Gortner L, Igel J, Schofer O. Meyer S, et al. Among authors: steinfeld r. Wien Med Wochenschr. 2015 May;165(9-10):210-3. doi: 10.1007/s10354-015-0359-4. Epub 2015 Jun 10. Wien Med Wochenschr. 2015. PMID: 26059544

2

Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.

Varvagiannis K, Hanquinet S, Billieux MH, De Luca R, Rimensberger P, Lidgren M, Guipponi M, Makrythanasis P, Blouin JL, Antonarakis SE, Steinfeld R, Kern I, Poretti A, Fluss J, Fokstuen S. Varvagiannis K, et al. Among authors: steinfeld r. Neuropediatrics. 2018 Apr;49(2):150-153. doi: 10.1055/s-0037-1613681. Epub 2017 Dec 28. Neuropediatrics. 2018. PMID: 29284168

3

Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.

Reinhardt K, Grapp M, Schlachter K, Brück W, Gärtner J, Steinfeld R. Reinhardt K, et al. Among authors: steinfeld r. Clin Genet. 2010 Jan;77(1):79-85. doi: 10.1111/j.1399-0004.2009.01285.x. Epub 2009 Oct 5. Clin Genet. 2010. PMID: 19807737

4

Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.

Steinfeld R, Heim P, von Gregory H, Meyer K, Ullrich K, Goebel HH, Kohlschütter A. Steinfeld R, et al. Am J Med Genet. 2002 Nov 1;112(4):347-54. doi: 10.1002/ajmg.10660. Am J Med Genet. 2002. PMID: 12376936

5

[Diagnostics and treatment of neuronal ceroid lipofuscinoses from the viewpoint of neuropediatricians].

Steinfeld R. Steinfeld R. Ophthalmologe. 2010 Jul;107(7):616-20. doi: 10.1007/s00347-009-2109-8. Ophthalmologe. 2010. PMID: 20454899 German.

6

Rapid and simple assay for the determination of tripeptidyl peptidase and palmitoyl protein thioesterase activities in dried blood spots.

Lukacs Z, Santavuori P, Keil A, Steinfeld R, Kohlschütter A. Lukacs Z, et al. Among authors: steinfeld r. Clin Chem. 2003 Mar;49(3):509-11. doi: 10.1373/49.3.509. Clin Chem. 2003. PMID: 12600970 No abstract available.

7

Lissencephaly with Brainstem Hypoplasia and Dysplasia: Think MACF1.

Bölsterli BK, Steindl K, Kottke R, Steinfeld R, Boltshauser E. Bölsterli BK, et al. Among authors: steinfeld r. Neuropediatrics. 2021 Jun;52(3):227. doi: 10.1055/s-0040-1722690. Epub 2021 Jan 28. Neuropediatrics. 2021. PMID: 33511591 No abstract available.

8

Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.

Steinfeld R, Steinke HB, Isbrandt D, Kohlschütter A, Gärtner J. Steinfeld R, et al. Hum Mol Genet. 2004 Oct 15;13(20):2483-91. doi: 10.1093/hmg/ddh264. Epub 2004 Aug 18. Hum Mol Genet. 2004. PMID: 15317752

9

Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.

Pal A, Kraetzner R, Gruene T, Grapp M, Schreiber K, Grønborg M, Urlaub H, Becker S, Asif AR, Gärtner J, Sheldrick GM, Steinfeld R. Pal A, et al. Among authors: steinfeld r. J Biol Chem. 2009 Feb 6;284(6):3976-84. doi: 10.1074/jbc.M806947200. Epub 2008 Nov 26. J Biol Chem. 2009. PMID: 19038966 Free article.

10

Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency.

Grapp M, Just IA, Linnankivi T, Wolf P, Lücke T, Häusler M, Gärtner J, Steinfeld R. Grapp M, et al. Among authors: steinfeld r. Brain. 2012 Jul;135(Pt 7):2022-31. doi: 10.1093/brain/aws122. Epub 2012 May 13. Brain. 2012. PMID: 22586289

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