Lücke T - Search Results

1

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

2

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.

3

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.

4

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

5

[Huntington's disease with childhood and adolescent onset: course of disease, clinical presentation and diagnostic challenges].

Thiels C, Stahl A, Saft C, Juckel G, Lücke T. Thiels C, et al. Among authors: lucke t. Fortschr Neurol Psychiatr. 2020 Oct;88(10):661-667. doi: 10.1055/a-1082-6605. Epub 2020 May 5. Fortschr Neurol Psychiatr. 2020. PMID: 32369858 Review. German.

6

Canavan's spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature.

Rossler L, Lemburg S, Weitkämper A, Thiels C, Hoffjan S, Nguyen HP, Lücke T, Heyer CM. Rossler L, et al. Among authors: lucke t. J Ultrasound. 2023 Dec;26(4):757-764. doi: 10.1007/s40477-022-00667-2. Epub 2022 Feb 20. J Ultrasound. 2023. PMID: 35187608 Free PMC article. Review.

7

Clinical Manifestation of Juvenile and Pediatric HD Patients: A Retrospective Case Series.

Achenbach J, Thiels C, Lücke T, Saft C. Achenbach J, et al. Among authors: lucke t. Brain Sci. 2020 Jun 3;10(6):340. doi: 10.3390/brainsci10060340. Brain Sci. 2020. PMID: 32503138 Free PMC article.

8

Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

Thiels C, Fleger M, Huemer M, Rodenburg RJ, Vaz FM, Houtkooper RH, Haack TB, Prokisch H, Feichtinger RG, Lücke T, Mayr JA, Wortmann SB. Thiels C, et al. Among authors: lucke t. JIMD Rep. 2016;29:89-93. doi: 10.1007/8904_2015_525. Epub 2016 Jan 3. JIMD Rep. 2016. PMID: 26724946 Free PMC article.

9

Cannabinoids for Treatment of Dystonia in Huntington's Disease.

Saft C, von Hein SM, Lücke T, Thiels C, Peball M, Djamshidian A, Heim B, Seppi K. Saft C, et al. Among authors: lucke t. J Huntingtons Dis. 2018;7(2):167-173. doi: 10.3233/JHD-170283. J Huntingtons Dis. 2018. PMID: 29562549

10

The L-arginine/NO pathway and homoarginine are altered in Duchenne muscular dystrophy and improved by glucocorticoids.

Hörster I, Weigt-Usinger K, Carmann C, Chobanyan-Jürgens K, Köhler C, Schara U, Kayacelebi AA, Beckmann B, Tsikas D, Lücke T. Hörster I, et al. Among authors: lucke t. Amino Acids. 2015 Sep;47(9):1853-63. doi: 10.1007/s00726-015-2018-x. Epub 2015 Jun 12. Amino Acids. 2015. PMID: 26066683 Clinical Trial.

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