Lönnqvist T - Search Results

1

Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease.

Lehtonen JM, Auranen M, Darin N, Sofou K, Bindoff L, Hikmat O, Uusimaa J, Vieira P, Tulinius M, Lönnqvist T, de Coo IF, Suomalainen A, Isohanni P. Lehtonen JM, et al. Among authors: lonnqvist t. J Inherit Metab Dis. 2021 Mar;44(2):469-480. doi: 10.1002/jimd.12307. Epub 2020 Sep 21. J Inherit Metab Dis. 2021. PMID: 32857451

2

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.

3

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

4

Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1).

Laakkonen H, Lönnqvist T, Uusimaa J, Qvist E, Valanne L, Nuutinen M, Ala-Houhala M, Majamaa K, Jalanko H, Holmberg C. Laakkonen H, et al. Among authors: lonnqvist t. Pediatr Nephrol. 2006 Feb;21(2):182-9. doi: 10.1007/s00467-005-2116-1. Epub 2005 Dec 17. Pediatr Nephrol. 2006. PMID: 16362719

5

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

6

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

7

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

8

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.

9

POLG1 manifestations in childhood.

Isohanni P, Hakonen AH, Euro L, Paetau I, Linnankivi T, Liukkonen E, Wallden T, Luostarinen L, Valanne L, Paetau A, Uusimaa J, Lönnqvist T, Suomalainen A, Pihko H. Isohanni P, et al. Among authors: lonnqvist t. Neurology. 2011 Mar 1;76(9):811-5. doi: 10.1212/WNL.0b013e31820e7b25. Neurology. 2011. PMID: 21357833

10

A multicenter study on Leigh syndrome: disease course and predictors of survival.

Sofou K, De Coo IF, Isohanni P, Ostergaard E, Naess K, De Meirleir L, Tzoulis C, Uusimaa J, De Angst IB, Lönnqvist T, Pihko H, Mankinen K, Bindoff LA, Tulinius M, Darin N. Sofou K, et al. Among authors: lonnqvist t. Orphanet J Rare Dis. 2014 Apr 15;9:52. doi: 10.1186/1750-1172-9-52. Orphanet J Rare Dis. 2014. PMID: 24731534 Free PMC article.

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