OpenURL Connection Search

Select item for more details and to access through your institution.

POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.
Published in:
BMC Neurology, 2010, v. 10, p. 29, doi. 10.1186/1471-2377-10-29
By:
- Komulainen, Tuomas;
- Hinttala, Reetta;
- Kärppä, Mikko;
- Pajunen, Leila;
- Finnilä, Saara;
- Tuominen, Hannu;
- Rantala, Heikki;
- Hassinen, Ilmo;
- Majamaa, Kari;
- Uusimaa, Johanna
Publication type:
Article
Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.
Published in:
Clinical Genetics, 2023, v. 104, n. 6, p. 686, doi. 10.1111/cge.14416
By:
- Hautakangas, Milla‐Riikka;
- Widgren, Paula;
- Korpelainen, Paavo;
- Kangas, Salla M.;
- Komulainen, Tuomas;
- Vieira, Päivi;
- Rahikkala, Elisa;
- Pylkäs, Katri;
- Tuominen, Hannu;
- Kokkonen, Hannaleena;
- Miinalainen, Ilkka;
- Nadaf, Javad;
- Majewski, Jacek;
- Hinttala, Reetta;
- Uusimaa, Johanna
Publication type:
Article
A novel mutation m.8561C>G in MT- ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.
Published in:
Journal of Neurology, 2016, v. 263, n. 11, p. 2188, doi. 10.1007/s00415-016-8249-2
By:
- Kytövuori, Laura;
- Lipponen, Joonas;
- Rusanen, Harri;
- Komulainen, Tuomas;
- Martikainen, Mika;
- Majamaa, Kari
Publication type:
Article
Myofibroblasts reside in the middle dermis of the keloids but do not predict the response to injection therapies: a double-blinded, randomized, controlled trial.
Published in:
Frontiers in Medicine, 2024, p. 01, doi. 10.3389/fmed.2024.1293028
By:
- Komulainen, Tuomas;
- Daymond, Patrik;
- Hietanen, Kristiina E.;
- Kaartinen, Ilkka S.;
- Jarvinen, Tero A. H.
Publication type:
Article

Found: 4

POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.

Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.

A novel mutation m.8561C>G in MT- ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.

Myofibroblasts reside in the middle dermis of the keloids but do not predict the response to injection therapies: a double-blinded, randomized, controlled trial.