Roos A - Search Results

1

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: roos 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.

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: roos 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. 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: roos 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

Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C.

Cipriani S, Phan V, Médard JJ, Horvath R, Lochmüller H, Chrast R, Roos A, Spendiff S. Cipriani S, et al. Among authors: roos a. Int J Mol Sci. 2018 Dec 17;19(12):4072. doi: 10.3390/ijms19124072. Int J Mol Sci. 2018. PMID: 30562927 Free PMC article.

6

Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients.

Kölbel H, Hathazi D, Jennings M, Horvath R, Roos A, Schara U. Kölbel H, et al. Among authors: roos a. Front Neurol. 2019 May 7;10:470. doi: 10.3389/fneur.2019.00470. eCollection 2019. Front Neurol. 2019. PMID: 31133972 Free PMC article.

7

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: roos a. Hum Mutat. 2020 Sep;41(9):1600-1614. doi: 10.1002/humu.24062. Epub 2020 Jul 11. Hum Mutat. 2020. PMID: 32516863

8

Further evidence for POMK as candidate gene for WWS with meningoencephalocele.

Paul L, Rupprich K, Della Marina A, Stein A, Elgizouli M, Kaiser FJ, Schweiger B, Köninger A, Iannaccone A, Hehr U, Kölbel H, Roos A, Schara-Schmidt U, Kuechler A. Paul L, et al. Among authors: roos a. Orphanet J Rare Dis. 2020 Sep 9;15(1):242. doi: 10.1186/s13023-020-01454-0. Orphanet J Rare Dis. 2020. PMID: 32907597 Free PMC article.

9

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.

Hathazi D, Griffin H, Jennings MJ, Giunta M, Powell C, Pearce SF, Munro B, Wei W, Boczonadi V, Poulton J, Pyle A, Calabrese C, Gomez-Duran A, Schara U, Pitceathly RDS, Hanna MG, Joost K, Cotta A, Paim JF, Navarro MM, Duff J, Mattman A, Chapman K, Servidei S, Della Marina A, Uusimaa J, Roos A, Mootha V, Hirano M, Tulinius M, Giri M, Hoffmann EP, Lochmüller H, DiMauro S, Minczuk M, Chinnery PF, Müller JS, Horvath R. Hathazi D, et al. Among authors: roos a. EMBO J. 2020 Dec 1;39(23):e105364. doi: 10.15252/embj.2020105364. Epub 2020 Oct 31. EMBO J. 2020. PMID: 33128823 Free PMC article.

10

Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience.

Gangfuss A, Schmitt D, Roos A, Braun F, Annoussamy M, Servais L, Schara-Schmidt U. Gangfuss A, et al. Among authors: roos a. J Neuromuscul Dis. 2021;8(1):79-90. doi: 10.3233/JND-200539. J Neuromuscul Dis. 2021. PMID: 33164942 Free PMC article.

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