Search Results - Pirjo Isohanni

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  1. 1
    Leigh Syndrome

    Leigh Syndrome by Nicole J. Lake, Matthew Bird, Pirjo Isohanni, Anders Paetau

    Published 2015
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    Revisão
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  2. 2
    Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion

    Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion by Anna H. Hakonen, Pirjo Isohanni, Anders Paetau, Riitta Herva, Anu Suomalainen, Tuula Lönnqvist

    Published 2007
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    Artigo
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  3. 3
    Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia

    Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia by Emil Ylikallio, Doyoun Kim, Pirjo Isohanni, Mari Auranen, Eunjoon Kim, Tuula Lönnqvist, Henna Tyynismaa

    Published 2015
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    Artigo
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  4. 4
    The expression of SOCS is altered in rheumatoid arthritis

    The expression of SOCS is altered in rheumatoid arthritis by Pia Isomäki, Tiina Alanärä, Pirjo Isohanni, A. Lagerstedt, Markku Korpela, Teemu Moilanen, Tapio Visakorpi, Olli Silvennoinen

    Published 2007
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    Artigo
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  5. 5
    Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome

    Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome by Sanna Matilainen, Christopher J. Carroll, Uwe Richter, Liliya Euro, Max Pohjanpelto, Anders Paetau, Pirjo Isohanni, Anu Suomalainen

    Published 2017
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    Artigo
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  6. 6
    Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome

    Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome by Alexandra Götz, Pirjo Isohanni, Helena Pihko, Anders Paetau, Riitta Herva, Outi Saarenpää‐Heikkilä, Leena Valanne, Sanna Marjavaara, Anu Suomalainen

    Published 2008
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    Artigo
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  7. 7
    Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

    Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions by Henna Tyynismaa, Ren Sun, Sofia Ahola, Henrikki Almusa, Rosanna Pöyhönen, Markku Korpela, Jari Honkaniemi, Pirjo Isohanni, Anders Paetau, L. Wang, Anu Suomalainen

    Published 2011
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    Artigo
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  8. 8
    Vegan diet in young children remodels metabolism and challenges the statuses of essential nutrients

    Vegan diet in young children remodels metabolism and challenges the statuses of essential nutrients by Topi Hovinen, Liisa Korkalo, Riitta Freese, Essi Skaffari, Pirjo Isohanni, Mikko Niemi, Jaakko Nevalainen, Helena Gylling, Nicola Zamboni, Maijaliisa Erkkola, Anu Suomalainen

    Published 2021
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    Artigo
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  9. 9
    DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis

    DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis by Pirjo Isohanni, Tarja Linnankivi, Jana Buzková, Tuula Lönnqvist, Helena Pihko, Leena Valanne, Pentti J. Tienari, Irina Elovaara, Tuula Pirttilä, Mauri Reunanen, Keijo Koivisto, Sanna Marjavaara, Anu Suomalainen

    Published 2009
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    Artigo
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  10. 10
    Modified Atkins diet induces subacute selective ragged‐red‐fiber lysis in mitochondrial myopathy patients

    Modified Atkins diet induces subacute selective ragged‐red‐fiber lysis in mitochondrial myopathy patients by Sofia Ahola, Mari Auranen, Pirjo Isohanni, Satu Niemisalo, Niina Urho, Jana Buzková, Vidya Velagapudi, Nina Lundbom, Antti Hakkarainen, Tiina Muurinen, Päivi Piirilä, Kirsi H. Pietiläinen, Anu Suomalainen

    Published 2016
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    Artigo
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  11. 11
    Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

    Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy by Jenni M. Elo, Srujana S. Yadavalli, Liliya Euro, Pirjo Isohanni, Alexandra Götz, Christopher J. Carroll, Leena Valanne, Fowzan S. Alkuraya, Johanna Uusimaa, Anders Paetau, Eric M. Caruso, Helena Pihko, Michael Ibba, Henna Tyynismaa, Anu Suomalainen

    Published 2012
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    Artigo
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  12. 12
    ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia

    ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia by Helen Cooper, Yang Yang, Emil Ylikallio, Rafil Khairullin, Rosa Woldegebriel, Kai‐Lan Lin, Liliya Euro, Eino Palin, Alexander Wolf, Ras Trokovic, Pirjo Isohanni, Seppo Kaakkola, Mari Auranen, Tuula Lönnqvist, Sjoerd Wanrooij, Henna Tyynismaa

    Published 2017
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    Artigo
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  13. 13
    Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

    Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases by Omar Hikmat, K Naess, Martin Engvall, Claus Klingenberg, Magnhild Rasmussen, Chantal Tallaksen, Eylert Brodtkorb, Elsebet Østergaard, I.F.M. de Coo, Leticia Pías‐Peleteiro, Pirjo Isohanni, Johanna Uusimaa, Niklas Darín, Shamima Rahman, Laurence A. Bindoff

    Published 2020
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    Artigo
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  14. 14
    A multicenter study on Leigh syndrome: disease course and predictors of survival

    A multicenter study on Leigh syndrome: disease course and predictors of survival by Kalliopi Sofou, I.F.M. de Coo, Pirjo Isohanni, Elsebet Østergaard, K Naess, Linda De Meırleır, Charalampos Tzoulis, Johanna Uusimaa, Isabell B De Angst, Tuula Lönnqvist, Helena Pihko, Katariina Mankinen, Laurence A. Bindoff, M. Tulinius, Niklas Darín

    Published 2014
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    Artigo
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  15. 15
    Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

    Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate by Anna-Kaisa Anttonen, Taru Hilander, Tarja Linnankivi, Pirjo Isohanni, Rachel L. French, Yuchen Liu, Miljan Simonović, Dieter Söll, Mirja Somer, Dorota Muth‐Pawlak, Garry L. Corthals, Anni Laari, Emil Ylikallio, Marja Lähde, Leena Valanne, Tuula Lönnqvist, Helena Pihko, Anders Paetau, Anna-Elina Lehesjoki, Anu Suomalainen, Henna Tyynismaa

    Published 2015
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  16. 16
    FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders

    FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders by Jenni M. Lehtonen, Saara Forsström, Emanuela Bottani, Carlo Viscomi, Olivier R. Baris, Helena Isoniemi, Krister Höckerstedt, Pia Österlund, Mikko Hurme, Juulia Jylhävä, Sirpa Leppä, Ritva Markkula, Tiina Heliö, Giuliana Mombelli, Johanna Uusimaa, Reijo Laaksonen, Hannu Laaksovirta, Mari Auranen, Massimo Zeviani, Jan Smeitink, Rudolf J. Wiesner, Kazuto Nakada, Pirjo Isohanni, Anu Suomalainen

    Published 2016
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    Artigo
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  17. 17
    Status epilepticus in POLG disease: a large multinational study

    Status epilepticus in POLG disease: a large multinational study by Omar Hikmat, K Naess, Martin Engvall, Claus Klingenberg, Magnhild Rasmussen, Eylert Brodtkorb, Elsebet Østergaard, I.F.M. de Coo, Leticia Pías‐Peleteiro, Pirjo Isohanni, Johanna Uusimaa, Kari Majamaa, Mikko Kärppä, Juan Darío Ortigoza‐Escobar, Trine Tangeraas, Siren Berland, Emma Harrison, Heather Biggs, Rita Horváth, Niklas Darín, Shamima Rahman, Laurence A. Bindoff

    Published 2024
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    Artigo
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  18. 18
    3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients

    3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients by Saskia B. Wortmann, Leo A. J. Kluijtmans, Richard J. Rodenburg, Jörn Oliver Sass, Jessica Nouws, Edwin P. van Kaauwen, Tjitske Kleefstra, Lisbeth Tranebjærg, Maaike C. de Vries, Pirjo Isohanni, Katharina Walter, Fowzan S. Alkuraya, Izelle Smuts, Carolus J. Reinecke, Francois H. van der Westhuizen, David R. Thorburn, Jan Smeitink, Éva Morava, Ron A. Wevers

    Published 2013
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    Artigo
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  19. 19
    FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

    FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study by Anu Suomalainen, Jenni M. Elo, Kirsi H. Pietiläinen, Anna H. Hakonen, Ksenia Sevastianova, Mari Korpela, Pirjo Isohanni, Sanna Marjavaara, Tiina Tyni, Sari Kiuru‐Enari, Helena Pihko, Niklas Darín, Katrin Õunap, Leo A. J. Kluijtmans, Anders Paetau, Jana Buzková, Laurence A. Bindoff, Johanna Annunen‐Rasila, Johanna Uusimaa, Aila Rissanen, Hannele Yki‐Järvinen, Michio Hirano, M. Tulinius, Jan Smeitink, Henna Tyynismaa

    Published 2011
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    Artigo
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  20. 20
    Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism

    Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism by Joni Nikkanen, Saara Forsström, Liliya Euro, Ilse Paetau, Rebecca A. Kohnz, Liya Wang, Dmitri Chilov, Jenni Viinamäki, Anne Roivainen, Päivi Marjamäki, Heidi Liljenbäck, Sofia Ahola, Jana Buzková, Mügen Terzioglu, Nahid Khan, Sini Pirnes-Karhu, Anders Paetau, Tuula Lönnqvist, Antti Sajantila, Pirjo Isohanni, Henna Tyynismaa, Daniel K. Nomura, Brendan J. Battersby, Vidya Velagapudi, Christopher J. Carroll, Anu Suomalainen

    Published 2016
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