Kress W - Search Results

1

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

2

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

3

Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.

Petersen JA, Kuntzer T, Fischer D, von der Hagen M, Huebner A, Kana V, Lobrinus JA, Kress W, Rushing EJ, Sinnreich M, Jung HH. Petersen JA, et al. Among authors: kress w. BMC Neurol. 2015 Oct 6;15:182. doi: 10.1186/s12883-015-0449-3. BMC Neurol. 2015. PMID: 26444858 Free PMC article.

4

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

5

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

6

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

7

Facing the genetic heterogeneity in neuromuscular disorders: linkage analysis as an economic diagnostic approach towards the molecular diagnosis.

von der Hagen M, Schallner J, Kaindl AM, Koehler K, Mitzscherling P, Abicht A, Grieben U, Korinthenberg R, Kress W, von Moers A, Müller JS, Schara U, Vorgerd M, Walter MC, Müller-Reible C, Hübner C, Lochmüller H, Huebner A. von der Hagen M, et al. Among authors: kress w. Neuromuscul Disord. 2006 Jan;16(1):4-13. doi: 10.1016/j.nmd.2005.10.001. Epub 2005 Dec 27. Neuromuscul Disord. 2006. PMID: 16378727

8

Novel RYR1 missense mutation causes core rod myopathy.

von der Hagen M, Kress W, Hahn G, Brocke KS, Mitzscherling P, Huebner A, Müller-Reible C, Stoltenburg-Didinger G, Kaindl AM. von der Hagen M, et al. Among authors: kress w. Eur J Neurol. 2008 Apr;15(4):e31-2. doi: 10.1111/j.1468-1331.2008.02094.x. Epub 2008 Feb 26. Eur J Neurol. 2008. PMID: 18312400 No abstract available.

9

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

10

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.

Walter MC, Reilich P, Huebner A, Fischer D, Schröder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause KH, Klutzny U, Bulst S, Frey JR, Lochmüller H. Walter MC, et al. Among authors: kress w. Brain. 2007 Jun;130(Pt 6):1485-96. doi: 10.1093/brain/awm039. Epub 2007 Apr 17. Brain. 2007. PMID: 17439987

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