Weis J - Search Results

1

Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3.

Della Marina A, Arlt A, Schara-Schmidt U, Depienne C, Gangfuß A, Kölbel H, Sickmann A, Freier E, Kohlschmidt N, Hentschel A, Weis J, Czech A, Grüneboom A, Roos A. Della Marina A, et al. Among authors: weis j. Cells. 2021 Dec 9;10(12):3481. doi: 10.3390/cells10123481. Cells. 2021. PMID: 34943989 Free PMC article.

2

Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling.

Brauers E, Dreier A, Roos A, Wormland B, Weis J, Krüttgen A. Brauers E, et al. Among authors: weis j. Am J Pathol. 2010 Jul;177(1):261-70. doi: 10.2353/ajpath.2010.090741. Epub 2010 May 14. Am J Pathol. 2010. PMID: 20472890 Free PMC article.

3

Novel FHL1 mutation in a family with reducing body myopathy.

Schreckenbach T, Henn W, Kress W, Roos A, Maschke M, Feiden W, Dillmann U, Schulz JB, Weis J, Claeys KG. Schreckenbach T, et al. Among authors: weis j. Muscle Nerve. 2013 Jan;47(1):127-34. doi: 10.1002/mus.23500. Epub 2012 Nov 21. Muscle Nerve. 2013. PMID: 23169582

4

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J. Krieger M, et al. Among authors: weis j. Brain. 2013 Dec;136(Pt 12):3634-44. doi: 10.1093/brain/awt283. Epub 2013 Oct 30. Brain. 2013. PMID: 24176978 Free article.

5

Novel TPM3 mutation in a family with cap myopathy and review of the literature.

Schreckenbach T, Schröder JM, Voit T, Abicht A, Neuen-Jacob E, Roos A, Bulst S, Kuhl C, Schulz JB, Weis J, Claeys KG. Schreckenbach T, et al. Among authors: weis j. Neuromuscul Disord. 2014 Feb;24(2):117-24. doi: 10.1016/j.nmd.2013.10.002. Epub 2013 Oct 23. Neuromuscul Disord. 2014. PMID: 24239060 Review.

6

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. Among authors: weis j. Acta Neuropathol. 2014 May;127(5):761-77. doi: 10.1007/s00401-013-1224-4. Epub 2013 Dec 21. Acta Neuropathol. 2014. PMID: 24362440

7

Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.

Roos A, Weis J, Korinthenberg R, Fehrenbach H, Häusler M, Züchner S, Mache C, Hubmann H, Auer-Grumbach M, Senderek J. Roos A, et al. Among authors: weis j. J Peripher Nerv Syst. 2015 Mar;20(1):52-9. doi: 10.1111/jns.12106. J Peripher Nerv Syst. 2015. PMID: 25676889

8

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. Among authors: weis j. Mol Neurobiol. 2016 Oct;53(8):5527-41. doi: 10.1007/s12035-015-9456-z. Epub 2015 Oct 14. Mol Neurobiol. 2016. PMID: 26468156

9

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: weis j. 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

10

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: weis j. 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.

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