Kubisch C - Search Results

1

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.

2

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

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

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

5

Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis.

Ramírez A, Faupel J, Goebel I, Stiller A, Beyer S, Stöckle C, Hasan C, Bode U, Kornak U, Kubisch C. Ramírez A, et al. Among authors: kubisch c. Hum Mutat. 2004 May;23(5):471-6. doi: 10.1002/humu.20028. Hum Mutat. 2004. PMID: 15108279

6

Rare missense variants in ATP1A2 in families with clustering of common forms of migraine.

Todt U, Dichgans M, Jurkat-Rott K, Heinze A, Zifarelli G, Koenderink JB, Goebel I, Zumbroich V, Stiller A, Ramirez A, Friedrich T, Göbel H, Kubisch C. Todt U, et al. Among authors: kubisch c. Hum Mutat. 2005 Oct;26(4):315-21. doi: 10.1002/humu.20229. Hum Mutat. 2005. PMID: 16110494

7

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

8

Haplotype-based systematic association studies of ATP1A2 in migraine with aura.

Netzer C, Todt U, Heinze A, Freudenberg J, Zumbroich V, Becker T, Goebel I, Ohlraun S, Goebel H, Kubisch C. Netzer C, et al. Among authors: kubisch c. Am J Med Genet B Neuropsychiatr Genet. 2006 Apr 5;141B(3):257-60. doi: 10.1002/ajmg.b.30283. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16508935

9

MTHFR C677T polymorphism and migraine with aura.

Todt U, Freudenberg J, Goebel I, Netzer C, Heinze A, Heinze-Kuhn K, Göbel H, Kubisch C. Todt U, et al. Among authors: kubisch c. Ann Neurol. 2006 Nov;60(5):621-622. doi: 10.1002/ana.20911. Ann Neurol. 2006. PMID: 16800002 No abstract available.

10

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.

Ramirez A, Heimbach A, Gründemann J, Stiller B, Hampshire D, Cid LP, Goebel I, Mubaidin AF, Wriekat AL, Roeper J, Al-Din A, Hillmer AM, Karsak M, Liss B, Woods CG, Behrens MI, Kubisch C. Ramirez A, et al. Among authors: kubisch c. Nat Genet. 2006 Oct;38(10):1184-91. doi: 10.1038/ng1884. Epub 2006 Sep 10. Nat Genet. 2006. PMID: 16964263

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