Schara U - Search Results

1

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy.

Böhm J, Vasli N, Maurer M, Cowling BS, Shelton GD, Kress W, Toussaint A, Prokic I, Schara U, Anderson TJ, Weis J, Tiret L, Laporte J. Böhm J, et al. Among authors: schara u. PLoS Genet. 2013 Jun;9(6):e1003430. doi: 10.1371/journal.pgen.1003430. Epub 2013 Jun 6. PLoS Genet. 2013. PMID: 23754947 Free PMC article.

2

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

3

X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation.

Schara U, Kress W, Tücke J, Mortier W. Schara U, et al. Neurology. 2003 Apr 22;60(8):1363-5. doi: 10.1212/01.wnl.0000058763.90924.fa. Neurology. 2003. PMID: 12707446

4

Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy.

Fouarge E, Monseur A, Boulanger B, Annoussamy M, Seferian AM, De Lucia S, Lilien C, Thielemans L, Paradis K, Cowling BS, Freitag C, Carlin BP, Servais L; NatHis-MTM Study Group. Fouarge E, et al. Orphanet J Rare Dis. 2021 Jan 6;16(1):3. doi: 10.1186/s13023-020-01663-7. Orphanet J Rare Dis. 2021. PMID: 33407688 Free PMC article.

5

The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy.

Schara U, Kress W, Bönnemann CG, Breitbach-Faller N, Korenke CG, Schreiber G, Stoetter M, Ferreiro A, von der Hagen M. Schara U, et al. Eur J Paediatr Neurol. 2008 May;12(3):224-30. doi: 10.1016/j.ejpn.2007.08.011. Epub 2007 Oct 22. Eur J Paediatr Neurol. 2008. PMID: 17951086

6

Characteristic clinical and ultrastructural findings in nesprinopathies.

Kölbel H, Abicht A, Schwartz O, Katona I, Paulus W, Neuen-Jacob E, Weis J, Schara U. Kölbel H, et al. Among authors: schara u. Eur J Paediatr Neurol. 2019 Mar;23(2):254-261. doi: 10.1016/j.ejpn.2018.12.011. Epub 2018 Dec 29. Eur J Paediatr Neurol. 2019. PMID: 30626539

7

Xp21/A translocation: a rarely considered genetic cause for manifesting carriers of duchenne muscular dystrophy.

Trippe H, Wieczorek S, Kötting J, Kress W, Schara U. Trippe H, et al. Among authors: schara u. Neuropediatrics. 2014 Oct;45(5):333-5. doi: 10.1055/s-0034-1383824. Epub 2014 Jul 21. Neuropediatrics. 2014. PMID: 25046452

8

Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy.

Zaum AK, Stüve B, Gehrig A, Kölbel H, Schara U, Kress W, Rost S. Zaum AK, et al. Among authors: schara u. Neuromuscul Disord. 2017 Jul;27(7):631-634. doi: 10.1016/j.nmd.2017.04.003. Epub 2017 Apr 7. Neuromuscul Disord. 2017. PMID: 28495050

9

The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.

Villar-Quiles RN, von der Hagen M, Métay C, Gonzalez V, Donkervoort S, Bertini E, Castiglioni C, Chaigne D, Colomer J, Cuadrado ML, de Visser M, Desguerre I, Eymard B, Goemans N, Kaindl A, Lagrue E, Lütschg J, Malfatti E, Mayer M, Merlini L, Orlikowski D, Reuner U, Salih MA, Schlotter-Weigel B, Stoetter M, Straub V, Topaloglu H, Urtizberea JA, van der Kooi A, Wilichowski E, Romero NB, Fardeau M, Bönnemann CG, Estournet B, Richard P, Quijano-Roy S, Schara U, Ferreiro A. Villar-Quiles RN, et al. Among authors: schara u. Neurology. 2020 Sep 15;95(11):e1512-e1527. doi: 10.1212/WNL.0000000000010327. Epub 2020 Aug 13. Neurology. 2020. PMID: 32796131 Free PMC article.

10

Morphological spectrum and clinical features of myopathies with tubular aggregates.

Funk F, Ceuterick-de Groote C, Martin JJ, Meinhardt A, Taratuto AL, De Bleecker J, Van Coster R, De Paepe B, Schara U, Vorgerd M, Häusler M, Koppi S, Maschke M, De Jonghe P, Van Maldergem L, Noel S, Zimmermann CW, Wirth S, Isenmann S, Stadler R, Schröder JM, Schulz JB, Weis J, Claeys KG. Funk F, et al. Among authors: schara u. Histol Histopathol. 2013 Aug;28(8):1041-54. doi: 10.14670/HH-28.1041. Epub 2013 Mar 12. Histol Histopathol. 2013. PMID: 23479431

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