Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy
O'Toole, John F, Liu, Yangjian, Davis, Erica E, Westlake, Christopher J, Attanasio, Massimo, Otto, Edgar A, Seelow, Dominik, Nurnberg, Gudrun, Becker, Christian, Nuutinen, Matti, Kärppä, Mikko, Ignatius, Jaakko, Uusimaa, Johanna, Pakanen, Salla, Jaakkola, Elisa, van den Heuvel, Lambertus P, Fehrenbach, Henry, Wiggins, Roger, Goyal, Meera, Zhou, Weibin, Wolf, Matthias T F, Wise, Eric, Helou, Juliana, Allen, Susan J, Murga-Zamalloa, Carlos A, Ashraf, Shazia, Chaki, Moumita, Heeringa, Saskia, Chernin, Gil, Hoskins, Bethan E, Chaib, Hassan, Gleeson, Joseph, Kusakabe, Takehiro, Suzuki, Takako, Isaac, R Elwyn, Quarmby, Lynne M, Tennant, Bryan, Fujioka, Hisashi, Tuominen, Hannu, Hassinen, Ilmo, Lohi, Hellevi, van Houten, Judith L, Rotig, Agnes, Sayer, John A, Rolinski, Boris, Freisinger, Peter, Madhavan, Sethu M, Herzer, Martina, Madignier, Florence, Prokisch, Holger, Nurnberg, Peter, Jackson, Peter K, Jackson, Peter, Khanna, Hemant, Katsanis, Nicholas, Hildebrandt, Friedhelm
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Published in The Journal of clinical investigation (01.03.2010)
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LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1
Pätsi, Jukka, Maliniemi, Pilvi, Pakanen, Salla, Hinttala, Reetta, Uusimaa, Johanna, Majamaa, Kari, Nyström, Thomas, Kervinen, Marko, Hassinen, Ilmo E.
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Published in Biochimica et biophysica acta (01.02.2012)
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Digenic mutations in severe myoclonic epilepsy of infancy
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Published in Epilepsy research (01.08.2009)
Published in Epilepsy research (01.08.2009)
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Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy
O’Toole, John F., Liu, Yangjian, Davis, Erica E., Westlake, Christopher J., Attanasio, Massimo, Otto, Edgar A., Seelow, Dominik, Nurnberg, Gudrun, Becker, Christian, Nuutinen, Matti, Kärppä, Mikko, Ignatius, Jaakko, Uusimaa, Johanna, Pakanen, Salla, Jaakkola, Elisa, van den Heuvel, Lambertus P., Fehrenbach, Henry, Wiggins, Roger, Goyal, Meera, Zhou, Weibin, Wolf, Matthias T.F., Wise, Eric, Helou, Juliana, Allen, Susan J., Murga-Zamalloa, Carlos A., Ashraf, Shazia, Chaki, Moumita, Heeringa, Saskia, Chernin, Gil, Hoskins, Bethan E., Chaib, Hassan, Gleeson, Joseph, Kusakabe, Takehiro, Suzuki, Takako, Isaac, R. Elwyn, Quarmby, Lynne M., Tennant, Bryan, Fujioka, Hisashi, Tuominen, Hannu, Hassinen, Ilmo, Lohi, Hellevi, van Houten, Judith L., Rotig, Agnes, Sayer, John A., Rolinski, Boris, Freisinger, Peter, Madhavan, Sethu M., Herzer, Martina, Madignier, Florence, Prokisch, Holger, Nurnberg, Peter, Jackson, Peter K., Khanna, Hemant, Katsanis, Nicholas, Hildebrandt, Friedhelm
Published in The Journal of clinical investigation (01.04.2010)
Published in The Journal of clinical investigation (01.04.2010)
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Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes
Komulainen, Tuomas, Hautakangas, Milla-Riikka, Hinttala, Reetta, Pakanen, Salla, Vähäsarja, Vesa, Lehenkari, Petri, Olsen, Päivi, Vieira, Päivi, Saarenpää-Heikkilä, Outi, Palmio, Johanna, Tuominen, Hannu, Kinnunen, Pietari, Majamaa, Kari, Rantala, Heikki, Uusimaa, Johanna
Published in JIMD Reports, Volume 23 (01.01.2015)
Published in JIMD Reports, Volume 23 (01.01.2015)
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