POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1471-2377
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
-
POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype ; volume:10 ; number:1 ; day:3 ; month:5 ; year:2010 ; pages:1-10 ; date:12.2010
BMC neurology ; 10, Heft 1 (3.5.2010), 1-10, 12.2010
- Creator
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Komulainen, Tuomas
- Contributor
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Hinttala, Reetta
Kärppä, Mikko
Pajunen, Leila
Finnilä, Saara
Tuominen, Hannu
Rantala, Heikki
Hassinen, Ilmo
Majamaa, Kari
Uusimaa, Johanna
SpringerLink (Online service)
- DOI
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10.1186/1471-2377-10-29
- URN
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urn:nbn:de:1111-2016030328284
- Rights
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Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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15.08.2025, 7:20 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Komulainen, Tuomas
- Hinttala, Reetta
- Kärppä, Mikko
- Pajunen, Leila
- Finnilä, Saara
- Tuominen, Hannu
- Rantala, Heikki
- Hassinen, Ilmo
- Majamaa, Kari
- Uusimaa, Johanna
- SpringerLink (Online service)
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Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria
Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells
Mutant C. elegans mitofusin leads to selective removal of mtDNA heteroplasmic deletions across generations to maintain fitness
Effects of Mitochondrial Nucleases on mtDNA Degradation
Increased levels of large scale deletions of mtDNA of skin fibroblasts result in increased collagen degradation in dermal skin equivalents
Canis mtDNA HV1 database: a web-based tool for collecting and surveying Canis mtDNA HV1 haplotype in public database
Molekulargenetische Untersuchungen und Sequenzanalysen an mitochondrialer DNA (mtDNA)
Possibility of selection against mtDNA mutations in tumors
Association of circulating MtDNA with CVD in hemodialysis patients and in vitro effect of exogenous MtDNA on cardiac microvascular inflammation
Healthy, mtDNA-mutation free mesoangioblasts from mtDNA patients qualify for autologous therapy
Exploring aspects of tissue specificity of human mtDNA heteroplasmy
ALS spinal neurons show varied and reduced mtDNA gene copy numbers and increased mtDNA gene deletions
Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria
Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells
Mutant C. elegans mitofusin leads to selective removal of mtDNA heteroplasmic deletions across generations to maintain fitness
Effects of Mitochondrial Nucleases on mtDNA Degradation
Increased levels of large scale deletions of mtDNA of skin fibroblasts result in increased collagen degradation in dermal skin equivalents
Canis mtDNA HV1 database: a web-based tool for collecting and surveying Canis mtDNA HV1 haplotype in public database
Molekulargenetische Untersuchungen und Sequenzanalysen an mitochondrialer DNA (mtDNA)
Possibility of selection against mtDNA mutations in tumors
Association of circulating MtDNA with CVD in hemodialysis patients and in vitro effect of exogenous MtDNA on cardiac microvascular inflammation
Healthy, mtDNA-mutation free mesoangioblasts from mtDNA patients qualify for autologous therapy