Kärppä M - Search Results

1

Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family.

Kullar PJ, Gomez-Duran A, Gammage PA, Garone C, Minczuk M, Golder Z, Wilson J, Montoya J, Häkli S, Kärppä M, Horvath R, Majamaa K, Chinnery PF. Kullar PJ, et al. Among authors: karppa m. Brain. 2018 Jan 1;141(1):55-62. doi: 10.1093/brain/awx295. Brain. 2018. PMID: 29182774 Free PMC article.

2

The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct.

Majamaa K, Turkka J, Kärppä M, Winqvist S, Hassinen IE. Majamaa K, et al. Among authors: karppa m. Neurology. 1997 Nov;49(5):1331-4. doi: 10.1212/wnl.49.5.1331. Neurology. 1997. PMID: 9371917

3

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

Majamaa K, Moilanen JS, Uimonen S, Remes AM, Salmela PI, Kärppä M, Majamaa-Voltti KA, Rusanen H, Sorri M, Peuhkurinen KJ, Hassinen IE. Majamaa K, et al. Among authors: karppa m. Am J Hum Genet. 1998 Aug;63(2):447-54. doi: 10.1086/301959. Am J Hum Genet. 1998. PMID: 9683591 Free PMC article.

4

Peripheral neuropathy in patients with the 3243A>G mutation in mitochondrial DNA.

Kärppä M, Syrjälä P, Tolonen U, Majamaa K. Kärppä M, et al. J Neurol. 2003 Feb;250(2):216-21. doi: 10.1007/s00415-003-0981-8. J Neurol. 2003. PMID: 12574954 Clinical Trial.

5

A mutation in mitochondrial DNA-encoded cytochrome c oxidase II gene in a child with Alpers-Huttenlocher-like disease.

Uusimaa J, Finnilä S, Vainionpää L, Kärppä M, Herva R, Rantala H, Hassinen IE, Majamaa K. Uusimaa J, et al. Among authors: karppa m. Pediatrics. 2003 Mar;111(3):e262-8. doi: 10.1542/peds.111.3.e262. Pediatrics. 2003. PMID: 12612282

6

Muscle computed tomography patterns in patients with the mitochondrial DNA mutation 3243A>G.

Kärppä M, Mahjneh I, Karttunen A, Tolonen U, Majamaa K. Kärppä M, et al. J Neurol. 2004 May;251(5):556-63. doi: 10.1007/s00415-004-0363-x. J Neurol. 2004. PMID: 15164188

7

Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population.

Remes AM, Majamaa-Voltti K, Kärppä M, Moilanen JS, Uimonen S, Helander H, Rusanen H, Salmela PI, Sorri M, Hassinen IE, Majamaa K. Remes AM, et al. Among authors: karppa m. Neurology. 2005 Mar 22;64(6):976-81. doi: 10.1212/01.WNL.0000154518.31302.ED. Neurology. 2005. PMID: 15781811

8

Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA.

Kärppä M, Herva R, Moslemi AR, Oldfors A, Kakko S, Majamaa K. Kärppä M, et al. Brain. 2005 Aug;128(Pt 8):1861-9. doi: 10.1093/brain/awh515. Epub 2005 Apr 27. Brain. 2005. PMID: 15857931

9

A 3-year clinical follow-up of adult patients with 3243A>G in mitochondrial DNA.

Majamaa-Voltti KA, Winqvist S, Remes AM, Tolonen U, Pyhtinen J, Uimonen S, Kärppä M, Sorri M, Peuhkurinen K, Majamaa K. Majamaa-Voltti KA, et al. Among authors: karppa m. Neurology. 2006 May 23;66(10):1470-5. doi: 10.1212/01.wnl.0000216136.61640.79. Neurology. 2006. PMID: 16717204

10

Cytoskeletal structure in cells harboring two mutations: R133C in NOTCH3 and 5650G>A in mitochondrial DNA.

Annunen-Rasila J, Kärppä M, Finnilä S, Ylä-Outinen H, Veijola J, Tuominen H, Peltonen J, Majamaa K. Annunen-Rasila J, et al. Among authors: karppa m. Mitochondrion. 2007 Feb-Apr;7(1-2):96-100. doi: 10.1016/j.mito.2006.11.004. Epub 2006 Dec 5. Mitochondrion. 2007. PMID: 17276737

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