Lönnqvist T - Search Results

1

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.

Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lönnqvist T, Peltonen L. Nikali K, et al. Among authors: lonnqvist t. Hum Mol Genet. 2005 Oct 15;14(20):2981-90. doi: 10.1093/hmg/ddi328. Epub 2005 Aug 31. Hum Mol Genet. 2005. PMID: 16135556

2

Early disc degeneration in radiotherapy-treated childhood brain tumor survivors.

Grahn P, Remes T, Kivisaari R, Suo-Palosaari MH, Arikoski PM, Koskenkorva PKT, Lähteenmäki PM, Lönnqvist TRI, Ojaniemi MK, Sirkiä KH, Sutela AK, Toiviainen-Salo SM, Rantala HMJ, Harila AH, Niinimäki J, Karppinen J, Ahonen M. Grahn P, et al. Among authors: lonnqvist tri. BMC Musculoskelet Disord. 2023 May 31;24(1):441. doi: 10.1186/s12891-023-06509-4. BMC Musculoskelet Disord. 2023. PMID: 37259117 Free PMC article.

3

Tracing an ancestral mutation: genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus.

Varilo T, Nikali K, Suomalainen A, Lönnqvist T, Peltonen L. Varilo T, et al. Among authors: lonnqvist t. Genome Res. 1996 Sep;6(9):870-5. doi: 10.1101/gr.6.9.870. Genome Res. 1996. PMID: 8889554 Free article.

4

Toward cloning of a novel ataxia gene: refined assignment and physical map of the IOSCA locus (SCA8) on 10q24.

Nikali K, Isosomppi J, Lönnqvist T, Mao JI, Suomalainen A, Peltonen L. Nikali K, et al. Among authors: lonnqvist t. Genomics. 1997 Jan 15;39(2):185-91. doi: 10.1006/geno.1996.4465. Genomics. 1997. PMID: 9027505

5

Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features.

Lönnqvist T, Paetau A, Nikali K, von Boguslawski K, Pihko H. Lönnqvist T, et al. J Neurol Sci. 1998 Nov 26;161(1):57-65. doi: 10.1016/s0022-510x(98)00249-4. J Neurol Sci. 1998. PMID: 9879682

6

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

Hakonen AH, Isohanni P, Paetau A, Herva R, Suomalainen A, Lönnqvist T. Hakonen AH, et al. Among authors: lonnqvist t. Brain. 2007 Nov;130(Pt 11):3032-40. doi: 10.1093/brain/awm242. Epub 2007 Oct 5. Brain. 2007. PMID: 17921179

7

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.

Hakonen AH, Goffart S, Marjavaara S, Paetau A, Cooper H, Mattila K, Lampinen M, Sajantila A, Lönnqvist T, Spelbrink JN, Suomalainen A. Hakonen AH, et al. Among authors: lonnqvist t. Hum Mol Genet. 2008 Dec 1;17(23):3822-35. doi: 10.1093/hmg/ddn280. Epub 2008 Sep 5. Hum Mol Genet. 2008. PMID: 18775955

8

Recessive twinkle mutations cause severe epileptic encephalopathy.

Lönnqvist T, Paetau A, Valanne L, Pihko H. Lönnqvist T, et al. Brain. 2009 Jun;132(Pt 6):1553-62. doi: 10.1093/brain/awp045. Epub 2009 Mar 20. Brain. 2009. PMID: 19304794

9

DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.

Isohanni P, Linnankivi T, Buzkova J, Lönnqvist T, Pihko H, Valanne L, Tienari PJ, Elovaara I, Pirttilä T, Reunanen M, Koivisto K, Marjavaara S, Suomalainen A. Isohanni P, et al. Among authors: lonnqvist t. J Med Genet. 2010 Jan;47(1):66-70. doi: 10.1136/jmg.2009.068221. Epub 2009 Jul 9. J Med Genet. 2010. PMID: 19592391

10

Dominant encephalopathy mimicking mitochondrial disease.

Lönnqvist T, Isohanni P, Valanne L, Olli-Lähdesmäki T, Suomalainen A, Pihko H. Lönnqvist T, et al. Neurology. 2011 Jan 4;76(1):101-3. doi: 10.1212/WNL.0b013e318203e908. Neurology. 2011. PMID: 21205700 No abstract available.

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