Thiels C - Search Results

1

ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease.

Thiels C, Lücke T, Rothoeft T, Lukas C, Nguyen HP, von Kleist-Retzow JC, Prokisch H, Grimmel M, Haack TB, Hoffjan S. Thiels C, et al. Neuropediatrics. 2024 Apr;55(2):140-145. doi: 10.1055/s-0043-1776013. Epub 2023 Oct 16. Neuropediatrics. 2024. PMID: 37846133 Free article.

2

Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1.

Hoffjan S, Thiels C, Vorgerd M, Neuen-Jacob E, Epplen JT, Kress W. Hoffjan S, et al. Among authors: thiels c. Neuromuscul Disord. 2006 Nov;16(11):749-53. doi: 10.1016/j.nmd.2006.07.020. Epub 2006 Sep 26. Neuromuscul Disord. 2006. PMID: 17005396

3

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: thiels c. Neuropediatrics. 2014 Dec;45(6):346-53. doi: 10.1055/s-0034-1383823. Epub 2014 Aug 11. Neuropediatrics. 2014. PMID: 25111564 Review.

4

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: thiels c. 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

5

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. JIMD Rep. 2016;29:89-93. doi: 10.1007/8904_2015_525. Epub 2016 Jan 3. JIMD Rep. 2016. PMID: 26724946 Free PMC article.

6

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: thiels c. J Huntingtons Dis. 2018;7(2):167-173. doi: 10.3233/JHD-170283. J Huntingtons Dis. 2018. PMID: 29562549

7

[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. 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.

8

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: thiels c. Brain Sci. 2020 Jun 3;10(6):340. doi: 10.3390/brainsci10060340. Brain Sci. 2020. PMID: 32503138 Free PMC article.

9

Age-dependent favorable visual recovery despite significant retinal atrophy in pediatric MOGAD: how much retina do you really need to see well?

Havla J, Pakeerathan T, Schwake C, Bennett JL, Kleiter I, Felipe-Rucián A, Joachim SC, Lotz-Havla AS, Kümpfel T, Krumbholz M, Wendel EM, Reindl M, Thiels C, Lücke T, Hellwig K, Gold R, Rostasy K, Ayzenberg I. Havla J, et al. Among authors: thiels c. J Neuroinflammation. 2021 May 29;18(1):121. doi: 10.1186/s12974-021-02160-9. J Neuroinflammation. 2021. PMID: 34051804 Free PMC article.

10

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: thiels c. 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.

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