Sickmann A - Search Results

1

Endoplasmic reticulum-stress and unfolded protein response-activation in immune-mediated necrotizing myopathy.

Preusse C, Marteau T, Fischer N, Hentschel A, Sickmann A, Lang S, Schneider U, Schara-Schmidt U, Meyer N, Ruck T, Dengler NF, Prudlo J, Dudesek A, Görl N, Allenbach Y, Benveniste O, Goebel HH, Dittmayer C, Stenzel W, Roos A. Preusse C, et al. Among authors: sickmann a. Brain Pathol. 2022 Nov;32(6):e13084. doi: 10.1111/bpa.13084. Epub 2022 Jun 15. Brain Pathol. 2022. PMID: 35703068 Free PMC article.

2

Tracking Effects of SIL1 Increase: Taking a Closer Look Beyond the Consequences of Elevated Expression Level.

Labisch T, Buchkremer S, Phan V, Kollipara L, Gatz C, Lentz C, Nolte K, Vervoorts J, Coraspe JAG, Sickmann A, Carr S, Zahedi RP, Weis J, Roos A. Labisch T, et al. Among authors: sickmann a. Mol Neurobiol. 2018 Mar;55(3):2524-2546. doi: 10.1007/s12035-017-0494-6. Epub 2017 Apr 11. Mol Neurobiol. 2018. PMID: 28401474

3

Intersection of Proteomics and Genomics to "Solve the Unsolved" in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases.

Roos A, Thompson R, Horvath R, Lochmüller H, Sickmann A. Roos A, et al. Among authors: sickmann a. Proteomics Clin Appl. 2018 Mar;12(2). doi: 10.1002/prca.201700073. Epub 2017 Oct 23. Proteomics Clin Appl. 2018. PMID: 29059504 Review.

4

Quantifying Missing (Phospho)Proteome Regions with the Broad-Specificity Protease Subtilisin.

Gonczarowska-Jorge H, Loroch S, Dell'Aica M, Sickmann A, Roos A, Zahedi RP. Gonczarowska-Jorge H, et al. Among authors: sickmann a. Anal Chem. 2017 Dec 19;89(24):13137-13145. doi: 10.1021/acs.analchem.7b02395. Epub 2017 Nov 28. Anal Chem. 2017. PMID: 29136377

5

First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC.

Kölbel H, Roos A, van der Ven PFM, Evangelista T, Nolte K, Johnson K, Töpf A, Wilson M, Kress W, Sickmann A, Straub V, Kollipara L, Weis J, Fürst DO, Schara U. Kölbel H, et al. Among authors: sickmann a. Hum Mutat. 2020 Sep;41(9):1600-1614. doi: 10.1002/humu.24062. Epub 2020 Jul 11. Hum Mutat. 2020. PMID: 32516863

6

Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases.

Hentschel A, Czech A, Münchberg U, Freier E, Schara-Schmidt U, Sickmann A, Reimann J, Roos A. Hentschel A, et al. Among authors: sickmann a. Orphanet J Rare Dis. 2021 Feb 9;16(1):73. doi: 10.1186/s13023-020-01669-1. Orphanet J Rare Dis. 2021. PMID: 33563298 Free PMC article.

7

Regulatory Function of Sympathetic Innervation on the Endo/Lysosomal Trafficking of Acetylcholine Receptor.

Straka T, Schröder C, Roos A, Kollipara L, Sickmann A, Williams MPI, Hafner M, Khan MM, Rudolf R. Straka T, et al. Among authors: sickmann a. Front Physiol. 2021 Mar 11;12:626707. doi: 10.3389/fphys.2021.626707. eCollection 2021. Front Physiol. 2021. PMID: 33776791 Free PMC article.

8

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1).

Töpf A, Pyle A, Griffin H, Matalonga L, Schon K; Solve-RD SNV-indel working group; Solve-RD DITF-euroNMD; Sickmann A, Schara-Schmidt U, Hentschel A, Chinnery PF, Kölbel H, Roos A, Horvath R. Töpf A, et al. Among authors: sickmann a. Eur J Hum Genet. 2021 Sep;29(9):1348-1353. doi: 10.1038/s41431-021-00851-8. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075209 Free PMC article.

9

Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.

Braun F, Hentschel A, Sickmann A, Marteau T, Hertel S, Förster F, Prokisch H, Wagner M, Wortmann S, Della Marina A, Kölbel H, Roos A, Schara-Schmidt U. Braun F, et al. Among authors: sickmann a. Int J Mol Sci. 2021 Jul 22;22(15):7835. doi: 10.3390/ijms22157835. Int J Mol Sci. 2021. PMID: 34360601 Free PMC article.

10

Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.

Gangfuß A, Czech A, Hentschel A, Münchberg U, Horvath R, Töpf A, O'Heir E, Lochmüller H, Stehling F, Kiewert C, Sickmann A, Kuechler A, Kaiser FJ, Kölbel H, Christiansen J, Schara-Schmidt U, Roos A. Gangfuß A, et al. Among authors: sickmann a. J Pathol. 2022 Jan;256(1):93-107. doi: 10.1002/path.5812. Epub 2021 Nov 18. J Pathol. 2022. PMID: 34599609

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