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Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. [electronic resource] by
- Hakonen, Anna H
- Goffart, Steffi
- Marjavaara, Sanna
- Paetau, Anders
- Cooper, Helen
- Mattila, Kimmo
- Lampinen, Milla
- Sajantila, Antti
- Lönnqvist, Tuula
- Spelbrink, Johannes N
- Suomalainen, Anu
Producer: 20081229
In:
Human molecular genetics vol. 17
Availability: No items available.
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9.
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Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism. [electronic resource] by
- Lyly, Annina
- Marjavaara, Sanna K
- Kyttälä, Aija
- Uusi-Rauva, Kristiina
- Luiro, Kaisu
- Kopra, Outi
- Martinez, Laurent O
- Tanhuanpää, Kimmo
- Kalkkinen, Nisse
- Suomalainen, Anu
- Jauhiainen, Matti
- Jalanko, Anu
Producer: 20080623
In:
Human molecular genetics vol. 17
Availability: No items available.
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10.
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FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. [electronic resource] by
- Suomalainen, Anu
- Elo, Jenni M
- Pietiläinen, Kirsi H
- Hakonen, Anna H
- Sevastianova, Ksenia
- Korpela, Mari
- Isohanni, Pirjo
- Marjavaara, Sanna K
- Tyni, Tiina
- Kiuru-Enari, Sari
- Pihko, Helena
- Darin, Niklas
- Õunap, Katrin
- Kluijtmans, Leo A J
- Paetau, Anders
- Buzkova, Jana
- Bindoff, Laurence A
- Annunen-Rasila, Johanna
- Uusimaa, Johanna
- Rissanen, Aila
- Yki-Järvinen, Hannele
- Hirano, Michio
- Tulinius, Mar
- Smeitink, Jan
- Tyynismaa, Henna
Producer: 20111013
In:
The Lancet. Neurology vol. 10
Availability: No items available.
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