Zobrazeno 1 - 10
of 182
pro vyhledávání: '"A Güttsches"'
Autor:
L. Volke, N.M. Daya, K. Döring, M. Rohm, M. Athamneh, H. Zaehres, A. Roos, A.K. Güttsches, L. Mavrommatis, M. Vorgerd
Publikováno v:
Stem Cell Research, Vol 79, Iss , Pp 103459- (2024)
Here we present the generation of HIMRi006-A and HIMRi007-A Pompe disease (PD) patient derived human induced pluripotent stem cell (hiPSC) lines. HIMRi006-A represents an infantile onset disease (IOPD) phenotype caused by a homozygous c.307 T > G mut
Externí odkaz:
https://doaj.org/article/a2e519379b19455c90d5e08511f686f5
Autor:
N.M. Daya, K. Döring, H. Zhuge, L. Volke, V. Stab, J. Dietz, M. Athamneh, A. Roos, H. Zaehres, A.K. Güttsches, L. Mavrommatis, M. Vorgerd
Publikováno v:
Stem Cell Research, Vol 76, Iss , Pp 103320- (2024)
Here we introduce the human induced pluripotent stem cell lines (hiPSCs), HIMRi004-A and HIMRi005-A from dermal fibroblasts of a 48-year-old female (HIMRi004-A) carrying missense mutation that translate to the first described filamin C isoform p.W271
Externí odkaz:
https://doaj.org/article/6486348008b54ad3bb217887cd2cfb21
Autor:
Johannes Forsting, Marlena Rohm, Martijn Froeling, Anne-Katrin Güttsches, Nicolina Südkamp, Andreas Roos, Matthias Vorgerd, Lara Schlaffke, Robert Rehmann
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-2 (2024)
Externí odkaz:
https://doaj.org/article/0c4a8db7e3504c8dbd40da105823fe39
Autor:
A. Boeing, L. Mavrommatis, N.M. Daya, H. Zhuge, L. Volke, A. Kocabas, M. Kneifel, M. Athamneh, K. Krause, N. Südkamp, K. Döring, C. Theiss, A. Roos, H. Zaehres, A.K. Güttsches, M. Vorgerd
Publikováno v:
Stem Cell Research, Vol 72, Iss , Pp 103220- (2023)
Here we introduce the human induced pluripotent stem cell lines (hiPSCs), HIMRi002-A and HIMRi003-A, generated from cultured dermal fibroblasts of 61-year-old (HIMRi002-A) and 38-year-old (HIMRi003-A) female patients, carrying a known heterozygous pa
Externí odkaz:
https://doaj.org/article/165d2aeb542943a4834f0179f29a12f1
Autor:
N.M. Daya, L. Mavrommatis, H. Zhuge, M. Athamneh, A. Roos, D. Gläser, K. Doering, H. Zaehres, M. Vorgerd, A.K. Güttsches
Publikováno v:
Stem Cell Research, Vol 72, Iss , Pp 103210- (2023)
Here we introduce the human induced pluripotent stem cell (hiPSC) line HIMRi001-A generated from cultured dermal fibroblasts of a 60-year-old male patient with a myofibrillar myopathy, carrying a heterozygous c.4984C > T [p.Q1662X] mutation in the fi
Externí odkaz:
https://doaj.org/article/3b57801c3a464179b9c92a7b59af4005
Akademický článek
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Autor:
Lara Schlaffke, Robert Rehmann, Anne-Katrin Güttsches, Matthias Vorgerd, Christine H. Meyer-Frießem, Hubert R. Dinse, Elena Enax-Krumova, Martijn Froeling, Johannes Forsting
Publikováno v:
Journal of Clinical Medicine, Vol 13, Iss 7, p 1958 (2024)
Background: Quantitative muscle MRI (qMRI) is a promising tool for evaluating and monitoring neuromuscular disorders (NMD). However, the application of different imaging protocols and processing pipelines restricts comparison between patient cohorts
Externí odkaz:
https://doaj.org/article/02d8f34c19374992b8895934a1a012fe
Autor:
Johannes Forsting, Marlena Rohm, Martijn Froeling, Anne-Katrin Güttsches, Nicolina Südkamp, Andreas Roos, Matthias Vorgerd, Lara Schlaffke, Robert Rehmann
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
Abstract To evaluate differences in qMRI parameters of muscle diffusion tensor imaging (mDTI), fat-fraction (FF) and water T2 time in leg muscles of calpainopathy patients (LGMD R1/D4) compared to healthy controls, to correlate those findings to clin
Externí odkaz:
https://doaj.org/article/815aa00d380b4a2f959745644e150855
Autor:
Jon Christiansen, Anne-Katrin Güttsches, Ulrike Schara-Schmidt, Matthias Vorgerd, Christoph Heute, Corinna Preusse, Werner Stenzel, Andreas Roos
Publikováno v:
Genes and Diseases, Vol 9, Iss 6, Pp 1506-1520 (2022)
Anoctamin-5 (ANO5) is a multi-pass membrane protein localized to the sarcolemma and the sarcoplasmic reticulum. Mutations were linked to rare autosomal recessive muscle diseases. Here, we summarize the clinical spectrum, imaging data and molecular re
Externí odkaz:
https://doaj.org/article/fd7fc8e1d2884268b14f0f49d33cfa0b
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.