Schmidt C - Search Results

1

Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene.

Barisic N, Schmidt C, Sidorova OP, Herczegfalvi A, Gekht BM, Song IH, Stucka R, Karcagi V, Abicht A, Lochmüller H. Barisic N, et al. Among authors: schmidt c. Neuropediatrics. 2002 Oct;33(5):249-54. doi: 10.1055/s-2002-36738. Neuropediatrics. 2002. PMID: 12536367

2

An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome.

Müller JS, Stucka R, Neudecker S, Zierz S, Schmidt C, Huebner A, Lochmüller H, Abicht A. Müller JS, et al. Among authors: schmidt c. Neurology. 2005 Aug 9;65(3):463-5. doi: 10.1212/01.wnl.0000172346.26219.fd. Neurology. 2005. PMID: 16087917

3

A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome.

Abicht A, Stucka R, Schmidt C, Briguet A, Höpfner S, Song IH, Pongratz D, Müller-Felber W, Ruegg MA, Lochmüller H. Abicht A, et al. Among authors: schmidt c. Brain. 2002 May;125(Pt 5):1005-13. doi: 10.1093/brain/awf095. Brain. 2002. PMID: 11960891

4

Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase.

Schmidt C, Abicht A, Krampfl K, Voss W, Stucka R, Mildner G, Petrova S, Schara U, Mortier W, Bufler J, Huebner A, Lochmüller H. Schmidt C, et al. Neuromuscul Disord. 2003 Mar;13(3):245-51. doi: 10.1016/s0960-8966(02)00273-0. Neuromuscul Disord. 2003. PMID: 12609506

5

Mutation history of the roma/gypsies.

Morar B, Gresham D, Angelicheva D, Tournev I, Gooding R, Guergueltcheva V, Schmidt C, Abicht A, Lochmuller H, Tordai A, Kalmar L, Nagy M, Karcagi V, Jeanpierre M, Herczegfalvi A, Beeson D, Venkataraman V, Warwick Carter K, Reeve J, de Pablo R, Kucinskas V, Kalaydjieva L. Morar B, et al. Among authors: schmidt c. Am J Hum Genet. 2004 Oct;75(4):596-609. doi: 10.1086/424759. Epub 2004 Aug 20. Am J Hum Genet. 2004. PMID: 15322984 Free PMC article.

6

Variable reduction of caveolin-3 in patients with LGMD2B/MM.

Walter MC, Braun C, Vorgerd M, Poppe M, Thirion C, Schmidt C, Schreiber H, Knirsch UI, Brummer D, Müller-Felber W, Pongratz D, Müller-Höcker J, Huebner A, Lochmüller H. Walter MC, et al. Among authors: schmidt c. J Neurol. 2003 Dec;250(12):1431-8. doi: 10.1007/s00415-003-0234-x. J Neurol. 2003. PMID: 14673575

7

Loss of YTHDC1 m⁶A reading function promotes invasiveness in urothelial carcinoma of the bladder.

Xu J, Koch J, Schmidt C, Nientiedt M, Neuberger M, Erben P, Michel MS, Rodríguez-Paredes M, Lyko F. Xu J, et al. Among authors: schmidt c. Exp Mol Med. 2025 Jan 1. doi: 10.1038/s12276-024-01377-x. Online ahead of print. Exp Mol Med. 2025. PMID: 39741187 Free article.

8

Supramolecular Peptide Depots for Glucose-Responsive Glucagon Delivery.

Chen W, Yu S, Webber B, DeWolf EL, Kilmer R, Xian S, Schmidt CR, Power EM, Webber MJ. Chen W, et al. Among authors: schmidt cr. J Biomed Mater Res A. 2025 Jan;113(1):e37854. doi: 10.1002/jbm.a.37854. J Biomed Mater Res A. 2025. PMID: 39719890

9

A Blood-based Metabolite Signature for Personalized Risk Assessment of Pancreatic Cancer.

León-Letelier RA, Chen Y, Ballaro R, Irajizad E, Do KA, Maitra A, Zhang J, Schmidt CM, Fahrmann JF. León-Letelier RA, et al. Among authors: schmidt cm. J Cancer Immunol (Wilmington). 2024;6(4):148-153. doi: 10.33696/cancerimmunol.6.095. J Cancer Immunol (Wilmington). 2024. PMID: 39713022 Free PMC article. No abstract available.

10

Myocardial Fibrosis in Diabetic Cardiomyopathy: Mechanisms, Implications, and Therapeutic Perspectives.

Schmidt CE, Müller HD. Schmidt CE, et al. Curr Probl Cardiol. 2024 Dec 18:102976. doi: 10.1016/j.cpcardiol.2024.102976. Online ahead of print. Curr Probl Cardiol. 2024. PMID: 39706391 Review.

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