Tuula Manninen

Mutations in Two Genes Encoding Different Subunits of a Receptor Signaling Complex Result in an Identical Disease Phenotype

Juha Paloneva, Tuula Manninen, Grant P. Christman et al. · The American Journal of Human Genetics · 2002 · 688 citations · Full text

Allelic Variant, Signal Transduction, Genetic Disorder +8

Tissue- and cell-type–specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model

Riikka H. Hämäläinen, Tuula Manninen, Hanna Koivumäki et al. · Proceedings of the National Academy of Sciences · 2013 · 204 citations · Full text

Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: Application to aspartylglucosaminuria in Finland

A-C Syvänen, Elina Ikonen, Tuula Manninen et al. · Genomics · 1992 · 137 citations

Mutant Allele, Biochemistry, Natural Sciences +7

Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1

Irma Järvelä, Johanna Schleutker, Leena Haataja et al. · Genomics · 1991 · 133 citations

Short Arm, Molecular Neuroscience, Developmental Biology +11

TFPa/HADHA is required for fatty acid beta-oxidation and cardiolipin re-modeling in human cardiomyocytes

Jason W. Miklas, Elisa C. Clark, Shiri Levy et al. · Nature Communications · 2019 · 106 citations · Full text