Schmidt C - Search Results

1

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

2

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

3

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

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

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

6

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.

7

Salm H, Eichler M, Bahr J, Andreou D, Schmidt C, Uhlig S, Pink D. Salm H, et al. Among authors: schmidt c. Cancer Invest. 2025 Jan 11:1-9. doi: 10.1080/07357907.2024.2447859. Online ahead of print. Cancer Invest. 2025. PMID: 39797618

8

Lead time trajectory of blood-based protein biomarkers for detection of pancreatic cancer based on repeat testing.

Fahrmann JF, Yip-Schneider M, Vykoukal J, Spencer R, Dennison JB, Do KA, Long JP, Maitra A, Zhang J, Schmidt CM, Hanash S, Irajizad E. Fahrmann JF, et al. Among authors: schmidt cm. Cancer Lett. 2025 Jan 8:217450. doi: 10.1016/j.canlet.2025.217450. Online ahead of print. Cancer Lett. 2025. PMID: 39793753

9

A minimal vertex model explains how the amnioserosa avoids fluidization during Drosophila dorsal closure.

Tah I, Haertter D, Crawford JM, Kiehart DP, Schmidt CF, Liu AJ. Tah I, et al. Among authors: schmidt cf. Proc Natl Acad Sci U S A. 2025 Jan 7;122(1):e2322732121. doi: 10.1073/pnas.2322732121. Epub 2024 Dec 30. Proc Natl Acad Sci U S A. 2025. PMID: 39793057

10

[Treatment of severe flares in Crohn's disease and ulcerative colitis].

Stallmach A, Stallhofer J, Schmidt C, Atreya R, Grunert PC. Stallmach A, et al. Among authors: schmidt c. Inn Med (Heidelb). 2025 Jan 10. doi: 10.1007/s00108-024-01825-w. Online ahead of print. Inn Med (Heidelb). 2025. PMID: 39792265 Review. German.

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