Lücke T - Search Results

1

Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy.

Coci EG, Codutti L, Fink C, Bartsch S, Grüning G, Lücke T, Kurth I, Riedel J. Coci EG, et al. Among authors: lucke t. Mol Cell Probes. 2017 Apr;32:18-23. doi: 10.1016/j.mcp.2016.11.002. Epub 2016 Nov 14. Mol Cell Probes. 2017. PMID: 27856333

2

Novel Unbalanced Translocations Affecting the Long Arms of Chromosomes 10 and 22 Cause Complex Syndromes with Very Severe Neurodevelopmental Delay, Speech Impairment, Autistic Behavior, and Epilepsy.

Coci EG, Auhuber A, Langenbach A, Mrasek K, Riedel J, Leenen A, Lücke T, Liehr T. Coci EG, et al. Among authors: lucke t. Cytogenet Genome Res. 2017;151(4):171-178. doi: 10.1159/000471501. Epub 2017 May 10. Cytogenet Genome Res. 2017. PMID: 28486223

3

Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene.

Köhler C, Heyer C, Hoffjan S, Stemmler S, Lücke T, Thiels C, Kohlschütter A, Löbel U, Horvath R, Kleinle S, Benet-Pages A, Abicht A. Köhler C, et al. Among authors: lucke t. Mol Cell Probes. 2015 Oct;29(5):319-22. doi: 10.1016/j.mcp.2015.06.005. Epub 2015 Aug 29. Mol Cell Probes. 2015. PMID: 26327357

4

Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene.

Hartmann H, Uyanik G, Gross C, Hehr U, Lücke T, Arslan-Kirchner M, Antosch B, Das AM, Winkler J. Hartmann H, et al. Among authors: lucke t. Neuropediatrics. 2004 Jun;35(3):157-60. doi: 10.1055/s-2004-817919. Neuropediatrics. 2004. PMID: 15248097

5

Novel variants in a patient with late-onset hyperprolinemia type II: diagnostic key for status epilepticus and lactic acidosis.

Motte J, Fisse AL, Grüter T, Schneider R, Breuer T, Lücke T, Krueger S, Nguyen HP, Gold R, Ayzenberg I, Ellrichmann G. Motte J, et al. Among authors: lucke t. BMC Neurol. 2019 Dec 29;19(1):345. doi: 10.1186/s12883-019-1583-0. BMC Neurol. 2019. PMID: 31884946 Free PMC article.

6

Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature.

Dusanic M, Dekomien G, Lücke T, Vorgerd M, Weis J, Epplen JT, Köhler C, Hoffjan S. Dusanic M, et al. Among authors: lucke t. Mol Syndromol. 2018 Feb;9(2):100-109. doi: 10.1159/000485881. Epub 2018 Jan 24. Mol Syndromol. 2018. PMID: 29593477 Free PMC article.

7

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

Grünert SC, Schlatter SM, Schmitt RN, Gemperle-Britschgi C, Mrázová L, Balcı MC, Bischof F, Çoker M, Das AM, Demirkol M, de Vries M, Gökçay G, Häberle J, Uçar SK, Lotz-Havla AS, Lücke T, Roland D, Rutsch F, Santer R, Schlune A, Staufner C, Schwab KO, Mitchell GA, Sass JO. Grünert SC, et al. Among authors: lucke t. Mol Genet Metab. 2017 Jul;121(3):206-215. doi: 10.1016/j.ymgme.2017.05.014. Epub 2017 May 22. Mol Genet Metab. 2017. PMID: 28583327

8

Propionic acidemia: unusual course with late onset and fatal outcome.

Lücke T, Pérez-Cerdá C, Baumgartner M, Fowler B, Sander S, Sasse M, Scholl S, Ugarte M, Das AM. Lücke T, et al. Metabolism. 2004 Jun;53(6):809-10. doi: 10.1016/j.metabol.2003.12.025. Metabolism. 2004. PMID: 15164333

9

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: lucke t. Brain. 2012 Jul;135(Pt 7):2022-31. doi: 10.1093/brain/aws122. Epub 2012 May 13. Brain. 2012. PMID: 22586289

10

Long survival in Leigh syndrome: new cases and review of literature.

Aulbert W, Weigt-Usinger K, Thiels C, Köhler C, Vorgerd M, Schreiner A, Hoffjan S, Rothoeft T, Wortmann SB, Heyer CM, Podskarbi T, Lücke T. Aulbert W, et al. Among authors: lucke t. Neuropediatrics. 2014 Dec;45(6):346-53. doi: 10.1055/s-0034-1383823. Epub 2014 Aug 11. Neuropediatrics. 2014. PMID: 25111564 Review.

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