Výsledky vyhledávání - Suomalainen, Anu
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Mitochondria: In Sickness and in Health Autor Nunnari, Jodi, Suomalainen, Anu
Vydáno 2012Text -
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Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ Autor Euro, Liliya, Farnum, Gregory A., Palin, Eino, Suomalainen, Anu, Kaguni, Laurie S.
Vydáno 2011Text -
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Tissue- and cell-type–specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model Autor Hämäläinen, Riikka H., Manninen, Tuula, Koivumäki, Hanna, Kislin, Mikhail, Otonkoski, Timo, Suomalainen, Anu
Vydáno 2013Text -
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Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy Autor Vasilescu, Catalina, Isohanni, Pirjo, Palomäki, Maarit, Pihko, Helena, Suomalainen, Anu, Carroll, Christopher J
Vydáno 2017Text -
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Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling Autor Goffart, Steffi, Cooper, Helen M., Tyynismaa, Henna, Wanrooij, Sjoerd, Suomalainen, Anu, Spelbrink, Johannes N.
Vydáno 2009Text -
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A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions Autor Tyynismaa, Henna, Ylikallio, Emil, Patel, Mehul, Molnar, Maria J., Haller, Ronald G., Suomalainen, Anu
Vydáno 2009Text -
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Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion Autor Matilainen, Sanna, Isohanni, Pirjo, Euro, Liliya, Lönnqvist, Tuula, Pihko, Helena, Kivelä, Tero, Knuutila, Sakari, Suomalainen, Anu
Vydáno 2015Text -
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Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion Autor Matilainen, Sanna, Isohanni, Pirjo, Euro, Liliya, Lönnqvist, Tuula, Pihko, Helena, Kivelä, Tero, Knuutila, Sakari, Suomalainen, Anu
Vydáno 2017Text -
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Disruption of the mouse Shmt2 gene confers embryonic anaemia via foetal liver-specific metabolomic disorders Autor Tani, Haruna, Mito, Takayuki, Velagapudi, Vidya, Ishikawa, Kaori, Umehara, Moe, Nakada, Kazuto, Suomalainen, Anu, Hayashi, Jun-Ichi
Vydáno 2019Text -
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Developmental and Pathological Changes in the Human Cardiac Muscle Mitochondrial DNA Organization, Replication and Copy Number Autor Pohjoismäki, Jaakko L. O., Goffart, Steffi, Taylor, Robert W., Turnbull, Douglas M., Suomalainen, Anu, Jacobs, Howard T., Karhunen, Pekka J.
Vydáno 2010Text -
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Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice Autor Ylikallio, Emil, Page, Jennifer L., Xu, Xia, Lampinen, Milla, Bepler, Gerold, Ide, Tomomi, Tyynismaa, Henna, Weiss, Robert S., Suomalainen, Anu
Vydáno 2010Text -
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Overexpression of Twinkle-helicase protects cardiomyocytes from genotoxic stress caused by reactive oxygen species Autor Pohjoismäki, Jaakko L. O., Williams, Siôn L., Boettger, Thomas, Goffart, Steffi, Kim, Johnny, Suomalainen, Anu, Moraes, Carlos T., Braun, Thomas
Vydáno 2013Text