Thiel CT - Search Results

1

Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients.

Türk M, Schröder R, Khuller K, Hofmann A, Berwanger C, Ludolph AC, Dekomien G, Müller K, Weishaupt JH, Thiel CT, Clemen CS. Türk M, et al. Among authors: thiel ct. Neurobiol Aging. 2017 Aug;56:213.e1-213.e5. doi: 10.1016/j.neurobiolaging.2017.04.023. Epub 2017 May 3. Neurobiol Aging. 2017. PMID: 28551275

2

Lack of Desmin in Mice Causes Structural and Functional Disorders of Neuromuscular Junctions.

Eiber N, Fröb F, Schowalter M, Thiel C, Clemen CS, Schröder R, Hashemolhosseini S. Eiber N, et al. Front Mol Neurosci. 2020 Oct 26;13:567084. doi: 10.3389/fnmol.2020.567084. eCollection 2020. Front Mol Neurosci. 2020. PMID: 33192292 Free PMC article.

3

Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case report.

Türk M, Nagel AM, Roemer F, Schlötzer-Schrehardt U, Thiel CT, Winterholler M, Schröder R. Türk M, et al. Among authors: thiel ct. BMC Musculoskelet Disord. 2019 Nov 20;20(1):553. doi: 10.1186/s12891-019-2942-0. BMC Musculoskelet Disord. 2019. PMID: 31747907 Free PMC article.

4

Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome.

Argente-Escrig H, Schultheis D, Kamm L, Schowalter M, Thiel C, Türk M, Clemen CS, Muelas N, Castañón MJ, Wiche G, Herrmann H, Vilchez JJ, Schröder R. Argente-Escrig H, et al. Neuropathol Appl Neurobiol. 2021 Feb;47(2):352-356. doi: 10.1111/nan.12652. Epub 2020 Aug 23. Neuropathol Appl Neurobiol. 2021. PMID: 32757300 No abstract available.

5

Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy.

Winter L, Türk M, Harter PN, Mittelbronn M, Kornblum C, Norwood F, Jungbluth H, Thiel CT, Schlötzer-Schrehardt U, Schröder R. Winter L, et al. Among authors: thiel ct. Acta Neuropathol Commun. 2016 Apr 27;4(1):44. doi: 10.1186/s40478-016-0314-7. Acta Neuropathol Commun. 2016. PMID: 27121971 Free PMC article.

6

Making sense of missense variants in TTN-related congenital myopathies.

Rees M, Nikoopour R, Fukuzawa A, Kho AL, Fernandez-Garcia MA, Wraige E, Bodi I, Deshpande C, Özdemir Ö, Daimagüler HS, Pfuhl M, Holt M, Brandmeier B, Grover S, Fluss J, Longman C, Farrugia ME, Matthews E, Hanna M, Muntoni F, Sarkozy A, Phadke R, Quinlivan R, Oates EC, Schröder R, Thiel C, Reimann J, Voermans N, Erasmus C, Kamsteeg EJ, Konersman C, Grosmann C, McKee S, Tirupathi S, Moore SA, Wilichowski E, Hobbiebrunken E, Dekomien G, Richard I, Van den Bergh P, Domínguez-González C, Cirak S, Ferreiro A, Jungbluth H, Gautel M. Rees M, et al. Acta Neuropathol. 2021 Mar;141(3):431-453. doi: 10.1007/s00401-020-02257-0. Epub 2021 Jan 15. Acta Neuropathol. 2021. PMID: 33449170 Free PMC article.

7

Rare copy number variants are a common cause of short stature.

Zahnleiter D, Uebe S, Ekici AB, Hoyer J, Wiesener A, Wieczorek D, Kunstmann E, Reis A, Doerr HG, Rauch A, Thiel CT. Zahnleiter D, et al. Among authors: thiel ct. PLoS Genet. 2013;9(3):e1003365. doi: 10.1371/journal.pgen.1003365. Epub 2013 Mar 14. PLoS Genet. 2013. PMID: 23516380 Free PMC article.

8

Biallelic SEMA3A defects cause a novel type of syndromic short stature.

Hofmann K, Zweier M, Sticht H, Zweier C, Wittmann W, Hoyer J, Uebe S, van Haeringen A, Thiel CT, Ekici AB, Reis A, Rauch A. Hofmann K, et al. Among authors: thiel ct. Am J Med Genet A. 2013 Nov;161A(11):2880-9. doi: 10.1002/ajmg.a.36250. Epub 2013 Oct 3. Am J Med Genet A. 2013. PMID: 24124006

9

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.

Hauer NN, Sticht H, Boppudi S, Büttner C, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Jamra RA, Wieczorek D, Kelkel J, Jung AM, Uebe S, Ekici AB, Rohrer T, Reis A, Dörr HG, Thiel CT. Hauer NN, et al. Among authors: thiel ct. Sci Rep. 2017 Sep 22;7(1):12225. doi: 10.1038/s41598-017-12465-6. Sci Rep. 2017. PMID: 28939912 Free PMC article.

10

Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria.

Hoyer J, Vasileiou G, Uebe S, Wunderle M, Kraus C, Fasching PA, Thiel CT, Hartmann A, Beckmann MW, Lux MP, Reis A. Hoyer J, et al. Among authors: thiel ct. BMC Cancer. 2018 Sep 26;18(1):926. doi: 10.1186/s12885-018-4821-8. BMC Cancer. 2018. PMID: 30257646 Free PMC article.

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