A
Anu Suomalainen
Researcher at University of Helsinki
Publications - 214
Citations - 19456
Anu Suomalainen is an academic researcher from University of Helsinki. The author has contributed to research in topics: Mitochondrial DNA & Mitochondrial disease. The author has an hindex of 67, co-authored 206 publications receiving 17041 citations. Previous affiliations of Anu Suomalainen include Montreal Neurological Institute and Hospital & University of Eastern Finland.
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Journal ArticleDOI
Integrative omics approaches provide biological and clinical insights: examples from mitochondrial diseases.
TL;DR: Omics approaches and discoveries with the potential to elucidate mechanisms of and therapies for mitochondrial diseases, such as metabolome remodeling are discussed.
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Laminar cortical necrosis in MELAS syndrome: MR and neuropathological observations.
TL;DR: The MR images showed an excellent correlation with the neuropathological results and displayed the various degrees of damage to the brain tissue caused by deficient energy production.
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A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement
Christopher B. Jackson,Martina Huemer,Ramona Bolognini,Franck Martin,Gabor Szinnai,Birgit C. Donner,Uwe Richter,Brendan J. Battersby,Jean-Marc Nuoffer,Anu Suomalainen,André Schaller +10 more
TL;DR: The data demonstrate pathogenic mutations in MRPS14 can manifest as a perinatal-onset mitochondrial hypertrophic cardiomyopathy with a novel molecular pathogenic mechanism that impairs the function of mitochondrial ribosomes during translation elongation or mitochondrial mRNA recruitment rather than assembly.
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Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy
Sofia Ahola,Pirjo Isohanni,Liliya Euro,Virginia Brilhante,Aarno Palotie,Helena Pihko,Tuula Lönnqvist,Tanita Lehtonen,Tanita Lehtonen,Jukka Laine,Henna Tyynismaa,Anu Suomalainen +11 more
TL;DR: It is shown that in addition to early-onset cardiomyopathy, TSFM mutations should be considered in childhood and juvenile encephalopathies with optic and/or peripheral neuropathy, ataxia, or Leigh disease, and novel defects of mitochondrial translation elongation factor Ts (EFTs) are reported.
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Two families with autosomal dominant progressive external ophthalmoplegia
Stefan Kiechl,Rita Horvath,Petri Luoma,U. Kiechl-Kohlendorfer,B Wallacher-Scholz,R Stucka,Claudia Thaler,Julia Wanschitz,Anu Suomalainen,Michaela Jaksch,Johann Willeit +10 more
TL;DR: The clinical and genetic features of two new families with autosomal dominant progressive external ophthalmoplegia (adPEO) are reported, adding a novel pathogenic mutation in Twinkle (F485L) to the growing list of genetic abnormalities in adPEO, and reinforce the relevance of other yet unidentified genes in mtDNA maintenance and pathogenesis of ad PEO.