Uusimaa J - Search Results

1

Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.

Kaustio M, Nayebzadeh N, Hinttala R, Tapiainen T, Åström P, Mamia K, Pernaa N, Lehtonen J, Glumoff V, Rahikkala E, Honkila M, Olsén P, Hassinen A, Polso M, Al Sukaiti N, Al Shekaili J, Al Kindi M, Al Hashmi N, Almusa H, Bulanova D, Haapaniemi E, Chen P, Suo-Palosaari M, Vieira P, Tuominen H, Kokkonen H, Al Macki N, Al Habsi H, Löppönen T, Rantala H, Pietiäinen V, Zhang SY, Renko M, Hautala T, Al Farsi T, Uusimaa J, Saarela J. Kaustio M, et al. Among authors: uusimaa j. J Allergy Clin Immunol. 2021 Aug;148(2):599-611. doi: 10.1016/j.jaci.2020.12.656. Epub 2021 Mar 1. J Allergy Clin Immunol. 2021. PMID: 33662367 Free article. Clinical Trial.

2

Childhood encephalopathies and myopathies: a prospective study in a defined population to assess the frequency of mitochondrial disorders.

Uusimaa J, Remes AM, Rantala H, Vainionpää L, Herva R, Vuopala K, Nuutinen M, Majamaa K, Hassinen IE. Uusimaa J, et al. Pediatrics. 2000 Mar;105(3 Pt 1):598-603. doi: 10.1542/peds.105.3.598. Pediatrics. 2000. PMID: 10699115

3

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. Pediatrics. 2003 Mar;111(3):e262-8. doi: 10.1542/peds.111.3.e262. Pediatrics. 2003. PMID: 12612282

4

Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes.

Uusimaa J, Finnilä S, Remes AM, Rantala H, Vainionpää L, Hassinen IE, Majamaa K. Uusimaa J, et al. Pediatrics. 2004 Aug;114(2):443-50. doi: 10.1542/peds.114.2.443. Pediatrics. 2004. PMID: 15286228

5

Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy.

Hinttala R, Uusimaa J, Remes AM, Rantala H, Hassinen IE, Majamaa K. Hinttala R, et al. Among authors: uusimaa j. J Mol Med (Berl). 2005 Oct;83(10):786-94. doi: 10.1007/s00109-005-0712-y. Epub 2005 Sep 3. J Mol Med (Berl). 2005. PMID: 16142472

6

The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I.

Kervinen M, Hinttala R, Helander HM, Kurki S, Uusimaa J, Finel M, Majamaa K, Hassinen IE. Kervinen M, et al. Among authors: uusimaa j. Hum Mol Genet. 2006 Sep 1;15(17):2543-52. doi: 10.1093/hmg/ddl176. Epub 2006 Jul 18. Hum Mol Genet. 2006. PMID: 16849371

7

Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children.

Uusimaa J, Moilanen JS, Vainionpää L, Tapanainen P, Lindholm P, Nuutinen M, Löppönen T, Mäki-Torkko E, Rantala H, Majamaa K. Uusimaa J, et al. Ann Neurol. 2007 Sep;62(3):278-87. doi: 10.1002/ana.21196. Ann Neurol. 2007. PMID: 17823937

8

Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.

Uusimaa J, Hinttala R, Rantala H, Päivärinta M, Herva R, Röyttä M, Soini H, Moilanen JS, Remes AM, Hassinen IE, Majamaa K. Uusimaa J, et al. Epilepsia. 2008 Jun;49(6):1038-45. doi: 10.1111/j.1528-1167.2008.01544.x. Epub 2008 Feb 20. Epilepsia. 2008. PMID: 18294203 Free article.

9

Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene.

Remes AM, Hinttala R, Kärppä M, Soini H, Takalo R, Uusimaa J, Majamaa K. Remes AM, et al. Among authors: uusimaa j. Parkinsonism Relat Disord. 2008 Dec;14(8):652-4. doi: 10.1016/j.parkreldis.2008.01.009. Epub 2008 Mar 5. Parkinsonism Relat Disord. 2008. PMID: 18321754

10

Digenic mutations in severe myoclonic epilepsy of infancy.

Bolszak M, Anttonen AK, Komulainen T, Hinttala R, Pakanen S, Sormunen R, Herva R, Lehesjoki AE, Majamaa K, Rantala H, Uusimaa J. Bolszak M, et al. Among authors: uusimaa j. Epilepsy Res. 2009 Aug;85(2-3):300-4. doi: 10.1016/j.eplepsyres.2009.03.004. Epub 2009 Apr 9. Epilepsy Res. 2009. PMID: 19359143

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

95 results

Search Page

Filters