Kubisch C - Search Results

1

Phenotypic variability in rippling muscle disease.

Vorgerd M, Bolz H, Patzold T, Kubisch C, Malin JP, Mortier W. Vorgerd M, et al. Among authors: kubisch c. Neurology. 1999 Apr 22;52(7):1453-9. doi: 10.1212/wnl.52.7.1453. Neurology. 1999. PMID: 10227634

2

Mutation analysis in myophosphorylase deficiency (McArdle's disease).

Vorgerd M, Kubisch C, Burwinkel B, Reichmann H, Mortier W, Tettenborn B, Pongratz D, Lindemuth R, Tegenthoff M, Malin JP, Kilimann MW. Vorgerd M, et al. Among authors: kubisch c. Ann Neurol. 1998 Mar;43(3):326-31. doi: 10.1002/ana.410430310. Ann Neurol. 1998. PMID: 9506549

3

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C. Bolz H, et al. Among authors: kubisch c. Nat Genet. 2001 Jan;27(1):108-12. doi: 10.1038/83667. Nat Genet. 2001. PMID: 11138009

4

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

Betz RC, Schoser BG, Kasper D, Ricker K, Ramírez A, Stein V, Torbergsen T, Lee YA, Nöthen MM, Wienker TF, Malin JP, Propping P, Reis A, Mortier W, Jentsch TJ, Vorgerd M, Kubisch C. Betz RC, et al. Among authors: kubisch c. Nat Genet. 2001 Jul;28(3):218-9. doi: 10.1038/90050. Nat Genet. 2001. PMID: 11431690

5

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: kubisch c. Neurology. 2001 Dec 26;57(12):2273-7. doi: 10.1212/wnl.57.12.2273. Neurology. 2001. PMID: 11756609

6

Characterization of ADAMTS14, a novel member of the ADAMTS metalloproteinase family.

Bolz H, Ramírez A, von Brederlow B, Kubisch C. Bolz H, et al. Among authors: kubisch c. Biochim Biophys Acta. 2001 Dec 30;1522(3):221-5. doi: 10.1016/s0167-4781(01)00329-3. Biochim Biophys Acta. 2001. PMID: 11779638

7

Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.

Kubisch C, Schoser BG, von Düring M, Betz RC, Goebel HH, Zahn S, Ehrbrecht A, Aasly J, Schroers A, Popovic N, Lochmüller H, Schröder JM, Brüning T, Malin JP, Fricke B, Meinck HM, Torbergsen T, Engels H, Voss B, Vorgerd M. Kubisch C, et al. Ann Neurol. 2003 Apr;53(4):512-20. doi: 10.1002/ana.10501. Ann Neurol. 2003. PMID: 12666119

8

Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease.

Van den Bergh PY, Gérard JM, Elosegi JA, Manto MU, Kubisch C, Schoser BG. Van den Bergh PY, et al. Among authors: kubisch c. J Neurol Neurosurg Psychiatry. 2004 Sep;75(9):1349-51. doi: 10.1136/jnnp.2003.028217. J Neurol Neurosurg Psychiatry. 2004. PMID: 15314133 Free PMC article.

9

Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.

Kubisch C, Ketelsen UP, Goebel I, Omran H. Kubisch C, et al. Ann Neurol. 2005 Feb;57(2):303-4. doi: 10.1002/ana.20350. Ann Neurol. 2005. PMID: 15668980 No abstract available.

10

Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs.

Fischer D, Walter MC, Kesper K, Petersen JA, Aurino S, Nigro V, Kubisch C, Meindl T, Lochmüller H, Wilhelm K, Urbach H, Schröder R. Fischer D, et al. Among authors: kubisch c. J Neurol. 2005 May;252(5):538-47. doi: 10.1007/s00415-005-0684-4. Epub 2005 Feb 23. J Neurol. 2005. PMID: 15726252

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