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Tuula Manninen · SciRah

Researcher profile · Semantic Scholar

Tuula Manninen

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Tuula Manninen — researcher profile on SciRah

h-index: 17
Works: 22
Citations: 2,016

Most-cited papers

Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.
J. Paloneva, Tuula Manninen, G. Christman, K. Hovanes +9 more
2002American Journal of Human Genetics697 citations Open access
Semantic Scholar
Tissue- and cell-type–specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model
R. Hämäläinen, Tuula Manninen, Hanna Koivumäki, M. Kislin +2 more
2013Proceedings of the National Academy of Sciences of the United States of America212 citations Open access
Semantic Scholar
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland.
A. Syvänen, E. Ikonen, Tuula Manninen, Marina Bengtström +3 more
1992Genomics138 citations
Semantic Scholar
Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1.
I. Järvelä, J. Schleutker, L. Haataja, P. Santavuori +8 more
1991Genomics131 citations
Semantic Scholar
New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies
T. Ojala, Padmini P. Polinati, Tuula Manninen, A. Hiippala +4 more
2012Pediatric Research113 citations
Semantic Scholar
TFPa/HADHA is required for fatty acid beta-oxidation and cardiolipin re-modeling in human cardiomyocytes
J. Miklas, Elisa Clark, S. Levy, D. Detraux +17 more
2019Nature Communications106 citations Open access
Semantic Scholar
Mice with Ppt1 Δex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons
A. Jalanko, J. Vesa, Tuula Manninen, C. von Schantz +7 more
2005Neurobiology of Disease100 citations Open access
Semantic Scholar
A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.
O. Kopra, J. Vesa, C. von Schantz, Tuula Manninen +7 more
2004Human Molecular Genetics94 citations Open access
Semantic Scholar
USF1 deficiency activates brown adipose tissue and improves cardiometabolic health
P. Laurila, J. Soronen, S. Kooijman, S. Forsström +43 more
2016Science Translational Medicine77 citations Open access
Semantic Scholar
Gimap3 Regulates Tissue-Specific Mitochondrial DNA Segregation
R. Jokinen, Paula Marttinen, Helena Sandell, Tuula Manninen +6 more
2010PLoS Genetics69 citations Open access
Semantic Scholar
Spectrum of mutations in aspartylglucosaminuria.
E. Ikonen, P. Aula, K. Grön, O. Tollersrud +4 more
1991Proceedings of the National Academy of Sciences of the United States of America48 citations Open access
Semantic Scholar
Quantitative determination of rare mRNA species by PCR and solid-phase minisequencing.
Elina Ikonen, Tuula Manninen, L. Peltonen, A. Syvänen
1992PCR methods and applications45 citations Open access
Semantic Scholar
Small Molecule Inhibitors Promote Efficient Generation of Induced Pluripotent Stem Cells From Human Skeletal Myoblasts
R. Trokovic, J. Weltner, Tuula Manninen, Milla Mikkola +4 more
2013Stem Cells and Development44 citations
Semantic Scholar
Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients.
A. Jalanko, Kai Tenhunen, C. McKinney, M. Lamarca +9 more
1998Human Molecular Genetics36 citations
Semantic Scholar
Molecular cloning, chromosomal assignment, and expression of the mouse aspartylglucosaminidase gene.
K. Tenhunen, M. Laan, Tuula Manninen, A. Palotie +2 more
1995Genomics36 citations
Semantic Scholar
Deletion of the C-terminal end of aspartylglucosaminidase resulting in a lysosomal accumulation disease: evidence for a unique genomic rearrangement.
A. Jalanko, Tuula Manninen, L. Peltonen
1995Human Molecular Genetics28 citations
Semantic Scholar
Ancestral allele of DNA polymerase gamma modifies antiviral tolerance
Yilin Kang, J. Hepojoki, Rocio Maldonado, Takayuki Mito +15 more
2024Nature27 citations Open access
Semantic Scholar
Recessive TMOD1 mutation causes childhood cardiomyopathy
C. Vasilescu, Mert Colpan, T. Ojala, Tuula Manninen +15 more
2024Communications Biology8 citations Open access
Semantic Scholar
Infantile neuronal ceroid-lipofuscinosis is not an allelic form of Batten disease: exclusion of chromosome 16 region with linkage analyses.
Irma Jokiaho, Lea Puhakka, P. Santavuori, Tuula Manninen +2 more
1990Genomics8 citations
Semantic Scholar
Author Correction: TFPa/HADHA is required for fatty acid beta-oxidation and cardiolipin re-modeling in human cardiomyocytes
J. Miklas, Elisa Clark, S. Levy, D. Detraux +17 more
2020Nature Communications4 citations Open access
Semantic Scholar
Nutrient-dependent pathology in mitochondrial hypertrophic cardiomyopathy model
Swagat Pradhan, Nahid A. Khan, Tuula Manninen, A. Zhaivoron +1 more
2025bioRxiv0 citations
Semantic Scholar
Cloning a novel mitochondrial protein which regulates tissue-specific mtDNA segregation
R. Jokinen, Paula Marttinen, K. Sandell, Tuula Manninen +6 more
20110 citations
Semantic Scholar

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