Walter MC - Search Results

1

Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.

Larsen M, Rost S, El Hajj N, Ferbert A, Deschauer M, Walter MC, Schoser B, Tacik P, Kress W, Müller CR. Larsen M, et al. Among authors: walter mc. Eur J Hum Genet. 2015 Jun;23(6):808-16. doi: 10.1038/ejhg.2014.191. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25370034 Free PMC article.

2

A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B.

Todorova A, Halliger-Keller B, Walter MC, Dabauvalle MC, Lochmüller H, Müller CR. Todorova A, et al. Among authors: walter mc. J Med Genet. 2003 Oct;40(10):e115. doi: 10.1136/jmg.40.10.e115. J Med Genet. 2003. PMID: 14569138 Free PMC article. No abstract available.

3

Homozygosity for CCTG mutation in myotonic dystrophy type 2.

Schoser BG, Kress W, Walter MC, Halliger-Keller B, Lochmüller H, Ricker K. Schoser BG, et al. Among authors: walter mc. Brain. 2004 Aug;127(Pt 8):1868-77. doi: 10.1093/brain/awh210. Epub 2004 Jul 1. Brain. 2004. PMID: 15231584

4

Long-term MRI and clinical follow-up of symptomatic and presymptomatic carriers of dysferlin gene mutations.

Brummer D, Walter MC, Palmbach M, Knirsch U, Karitzky J, Tomczak R, Braun C, Grundhoff N, Bornemann A, Müller CR, Lochmüller H, Schreiber H. Brummer D, et al. Among authors: walter mc. Acta Myol. 2005 Jul;24(1):6-16. Acta Myol. 2005. PMID: 16312142

5

Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy.

Müller JS, Piko H, Schoser BG, Schlotter-Weigel B, Reilich P, Gürster S, Born C, Karcagi V, Pongratz D, Lochmüller H, Walter MC. Müller JS, et al. Among authors: walter mc. Neuromuscul Disord. 2006 Jul;16(7):432-6. doi: 10.1016/j.nmd.2006.04.006. Epub 2006 May 26. Neuromuscul Disord. 2006. PMID: 16730439

6

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. Brain. 2007 Jun;130(Pt 6):1485-96. doi: 10.1093/brain/awm039. Epub 2007 Apr 17. Brain. 2007. PMID: 17439987

7

Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.

Müller-Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D, Walter MC, Baethmann M, Schlotter-Weigel B, Lochmüller H, Schoser B. Müller-Felber W, et al. Among authors: walter mc. Neuromuscul Disord. 2007 Oct;17(9-10):698-706. doi: 10.1016/j.nmd.2007.06.002. Epub 2007 Jul 23. Neuromuscul Disord. 2007. PMID: 17643989

8

Brain imaging and neuropsychology in late-onset dementia due to a novel mutation (R93C) of valosin-containing protein.

Krause S, Göhringer T, Walter MC, Schoser BG, Reilich P, Linn J, Pöpperl GE, Frölich L, Hentschel F, Lochmüller H, Danek A. Krause S, et al. Among authors: walter mc. Clin Neuropathol. 2007 Sep-Oct;26(5):232-40. doi: 10.5414/npp26232. Clin Neuropathol. 2007. PMID: 17907600

9

LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments.

Reilich P, Petersen JA, Vielhaber S, Mawrin C, Schneider-Gold C, Sommer C, Reiners K, Deschauer M, Pongratz D, Lochmüller H, Walter MC. Reilich P, et al. Among authors: walter mc. Acta Myol. 2006 Oct;25(2):73-6. Acta Myol. 2006. PMID: 18593008

10

High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany.

Suominen T, Schoser B, Raheem O, Auvinen S, Walter M, Krahe R, Lochmüller H, Kress W, Udd B. Suominen T, et al. J Neurol. 2008 Nov;255(11):1731-6. doi: 10.1007/s00415-008-0010-z. Epub 2008 Sep 24. J Neurol. 2008. PMID: 18807109 Free PMC article.

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