Kress W - Search Results

1

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. Among authors: kress w. Neurology. 2003 Apr 22;60(8):1363-5. doi: 10.1212/01.wnl.0000058763.90924.fa. Neurology. 2003. PMID: 12707446

2

A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.

Vorgerd M, Ricker K, Ziemssen F, Kress W, Goebel HH, Nix WA, Kubisch C, Schoser BG, Mortier W. Vorgerd M, et al. Among authors: kress w. Neurology. 2001 Dec 26;57(12):2273-7. doi: 10.1212/wnl.57.12.2273. Neurology. 2001. PMID: 11756609

3

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

4

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. Among authors: kress w. 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

5

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: kress w. Neuropediatrics. 2014 Oct;45(5):333-5. doi: 10.1055/s-0034-1383824. Epub 2014 Jul 21. Neuropediatrics. 2014. PMID: 25046452

6

Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1.

Hoffjan S, Thiels C, Vorgerd M, Neuen-Jacob E, Epplen JT, Kress W. Hoffjan S, et al. Among authors: kress w. Neuromuscul Disord. 2006 Nov;16(11):749-53. doi: 10.1016/j.nmd.2006.07.020. Epub 2006 Sep 26. Neuromuscul Disord. 2006. PMID: 17005396

7

Diagnosis of X-linked myotubular myopathy by detection of myotubularin.

Laporte J, Kress W, Mandel JL. Laporte J, et al. Among authors: kress w. Ann Neurol. 2001 Jul;50(1):42-6. doi: 10.1002/ana.1033. Ann Neurol. 2001. PMID: 11456308

8

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: kress w. 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.

9

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: kress w. 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

10

Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy.

Reilich P, Schramm N, Schoser B, Schneiderat P, Strigl-Pill N, Müller-Höcker J, Kress W, Ferbert A, Rudnik-Schöneborn S, Noth J, Lochmüller H, Weis J, Walter MC. Reilich P, et al. Among authors: kress w. J Neurol. 2010 Jul;257(7):1108-18. doi: 10.1007/s00415-010-5471-1. Epub 2010 Feb 10. J Neurol. 2010. PMID: 20146070

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