Roos A - Search Results

1

Clinical and research strategies for limb-girdle congenital myasthenic syndromes.

O'Connor E, Töpf A, Zahedi RP, Spendiff S, Cox D, Roos A, Lochmüller H. O'Connor E, et al. Among authors: roos a. Ann N Y Acad Sci. 2018 Jan;1412(1):102-112. doi: 10.1111/nyas.13520. Epub 2018 Jan 5. Ann N Y Acad Sci. 2018. PMID: 29315608 Review.

2

Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology.

Roos A, Buchkremer S, Kollipara L, Labisch T, Gatz C, Zitzelsberger M, Brauers E, Nolte K, Schröder JM, Kirschner J, Jesse CM, Goebel HH, Goswami A, Zimmermann R, Zahedi RP, Senderek J, Weis J. Roos A, et al. Acta Neuropathol. 2014 May;127(5):761-77. doi: 10.1007/s00401-013-1224-4. Epub 2013 Dec 21. Acta Neuropathol. 2014. PMID: 24362440

3

Cellular Signature of SIL1 Depletion: Disease Pathogenesis due to Alterations in Protein Composition Beyond the ER Machinery.

Roos A, Kollipara L, Buchkremer S, Labisch T, Brauers E, Gatz C, Lentz C, Gerardo-Nava J, Weis J, Zahedi RP. Roos A, et al. Mol Neurobiol. 2016 Oct;53(8):5527-41. doi: 10.1007/s12035-015-9456-z. Epub 2015 Oct 14. Mol Neurobiol. 2016. PMID: 26468156

4

Proteome Profiling and Ultrastructural Characterization of the Human RCMH Cell Line: Myoblastic Properties and Suitability for Myopathological Studies.

Kollipara L, Buchkremer S, Weis J, Brauers E, Hoss M, Rütten S, Caviedes P, Zahedi RP, Roos A. Kollipara L, et al. Among authors: roos a. J Proteome Res. 2016 Mar 4;15(3):945-55. doi: 10.1021/acs.jproteome.5b00972. Epub 2016 Feb 15. J Proteome Res. 2016. PMID: 26781476

5

The Caveolin-3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysis.

Brauers E, Roos A, Kollipara L, Zahedi RP, Beckmann A, Mohanadas N, Bauer H, Häusler M, Thoma S, Kress W, Senderek J, Weis J. Brauers E, et al. Among authors: roos a. Proteomics Clin Appl. 2017 Jan;11(1-2):1600007. doi: 10.1002/prca.201600007. Epub 2016 Nov 14. Proteomics Clin Appl. 2017. PMID: 27739254 Free PMC article.

6

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.

Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araújo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell'Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J. Wiessner M, et al. Among authors: roos a. Am J Hum Genet. 2017 Mar 2;100(3):523-536. doi: 10.1016/j.ajhg.2017.01.024. Epub 2017 Feb 9. Am J Hum Genet. 2017. PMID: 28190456 Free PMC article.

7

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

8

Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes.

Azuma Y, Töpf A, Evangelista T, Lorenzoni PJ, Roos A, Viana P, Inagaki H, Kurahashi H, Lochmüller H. Azuma Y, et al. Among authors: roos a. Neurol Genet. 2017 May 3;3(3):e152. doi: 10.1212/NXG.0000000000000152. eCollection 2017 Jun. Neurol Genet. 2017. PMID: 28508085 Free PMC article.

9

Mass spectrometry-based protein analysis to unravel the tissue pathophysiology in Duchenne muscular dystrophy.

Carr SJ, Zahedi RP, Lochmüller H, Roos A. Carr SJ, et al. Among authors: roos a. Proteomics Clin Appl. 2018 Mar;12(2). doi: 10.1002/prca.201700071. Epub 2017 Jul 13. Proteomics Clin Appl. 2018. PMID: 28631898 Review.

10

MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide.

Reza M, Cox D, Phillips L, Johnson D, Manoharan V, Grieves M, Davis B, Roos A, Morgan J, Hanna MG, Muntoni F, Lochmüller H. Reza M, et al. Among authors: roos a. Neuromuscul Disord. 2017 Nov;27(11):1054-1064. doi: 10.1016/j.nmd.2017.07.001. Epub 2017 Jul 10. Neuromuscul Disord. 2017. PMID: 28864117 Free PMC article.

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