Kubisch C - Search Results

1

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.

2

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

3

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

4

Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two.

Schoser B, Jacob S, Hilton-Jones D, Müller-Felber W, Kubisch C, Claus D, Goebel HH, Vita G, Vincent A, Toscano A, Van den Bergh P. Schoser B, et al. Among authors: kubisch c. Neuromuscul Disord. 2009 Mar;19(3):223-8. doi: 10.1016/j.nmd.2009.01.002. Epub 2009 Feb 8. Neuromuscul Disord. 2009. PMID: 19208478

5

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

6

Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation.

Madrid RE, Kubisch C, Hays AP. Madrid RE, et al. Among authors: kubisch c. Neurology. 2005 Oct 25;65(8):1301-3. doi: 10.1212/01.wnl.0000180963.85963.73. Neurology. 2005. PMID: 16247063

7

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

8

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.

9

Comprehensive analysis of the mutation spectrum in 301 German ALS families.

Müller K, Brenner D, Weydt P, Meyer T, Grehl T, Petri S, Grosskreutz J, Schuster J, Volk AE, Borck G, Kubisch C, Klopstock T, Zeller D, Jablonka S, Sendtner M, Klebe S, Knehr A, Günther K, Weis J, Claeys KG, Schrank B, Sperfeld AD, Hübers A, Otto M, Dorst J, Meitinger T, Strom TM, Andersen PM, Ludolph AC, Weishaupt JH; German ALS network MND-NET. Müller K, et al. Among authors: kubisch c. J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):817-827. doi: 10.1136/jnnp-2017-317611. Epub 2018 Apr 12. J Neurol Neurosurg Psychiatry. 2018. PMID: 29650794

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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