Walter MC - Search Results

1

Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies.

Esapa CT, McIlhinney RAJ, Waite AJ, Benson MA, Mirzayan J, Piko H, Herczegfalvi Á, Horvath R, Karcagi V, Walter MC, Lochmüller H, Rizkallah PJ, Lu QL, Blake DJ. Esapa CT, et al. Among authors: walter mc. Front Mol Biosci. 2023 Dec 7;10:1279700. doi: 10.3389/fmolb.2023.1279700. eCollection 2023. Front Mol Biosci. 2023. PMID: 38161385 Free PMC article.

2

Novel approaches to treat muscular dystrophies.

Walter MC, Lochmüller H. Walter MC, et al. Expert Opin Investig Drugs. 2001 Apr;10(4):695-707. doi: 10.1517/13543784.10.4.695. Expert Opin Investig Drugs. 2001. PMID: 11281819 Review.

3

Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle.

Dunant P, Walter MC, Karpati G, Lochmüller H. Dunant P, et al. Among authors: walter mc. Muscle Nerve. 2003 May;27(5):624-7. doi: 10.1002/mus.10341. Muscle Nerve. 2003. PMID: 12707984

4

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.

5

A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation.

Krause S, Schlotter-Weigel B, Walter MC, Najmabadi H, Wiendl H, Müller-Höcker J, Müller-Felber W, Pongratz D, Lochmüller H. Krause S, et al. Among authors: walter mc. Neuromuscul Disord. 2003 Dec;13(10):830-4. doi: 10.1016/s0960-8966(03)00140-8. Neuromuscul Disord. 2003. PMID: 14678807

6

FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.

Walter MC, Petersen JA, Stucka R, Fischer D, Schröder R, Vorgerd M, Schroers A, Schreiber H, Hanemann CO, Knirsch U, Rosenbohm A, Huebner A, Barisic N, Horvath R, Komoly S, Reilich P, Müller-Felber W, Pongratz D, Müller JS, Auerswald EA, Lochmüller H. Walter MC, et al. J Med Genet. 2004 Apr;41(4):e50. doi: 10.1136/jmg.2003.013953. J Med Genet. 2004. PMID: 15060126 Free PMC article. No abstract available.

7

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

8

Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood.

Walter MC, Dekomien G, Schlotter-Weigel B, Reilich P, Pongratz D, Müller-Felber W, Epplen JT, Huebner A, Lochmüller H. Walter MC, et al. Acta Myol. 2004 May;23(1):1-5. Acta Myol. 2004. PMID: 15298081

9

Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy.

Walter MC, Witt TN, Weigel BS, Reilich P, Richard P, Pongratz D, Bonne G, Wehnert MS, Lochmüller H. Walter MC, et al. Neuromuscul Disord. 2005 Jan;15(1):40-4. doi: 10.1016/j.nmd.2004.09.007. Neuromuscul Disord. 2005. PMID: 15639119

10

[Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family].

Horváth R, Walter MC, Lochmüller H, Hübner A, Karcagi V, Pikó H, Timár L, Komoly S. Horváth R, et al. Among authors: walter mc. Ideggyogy Sz. 2005 Jan 20;58(1-2):52-8. Ideggyogy Sz. 2005. PMID: 15884399 Hungarian.

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