檢索結果 - Leena Valanne

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  1. 1
    Recessive twinkle mutations cause severe epileptic encephalopathy

    Recessive twinkle mutations cause severe epileptic encephalopathy 由 Tuula Lönnqvist, Anders Paetau, Leena Valanne, Helena Pihko

    出版 2009
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  2. 2
    Reactivity of sensorimotor oscillations is altered in children with hemiplegic cerebral palsy: A magnetoencephalographic study

    Reactivity of sensorimotor oscillations is altered in children with hemiplegic cerebral palsy: A magnetoencephalographic study 由 Elina Pihko, Päivi Nevalainen, Selja Vaalto, Kristina Laaksonen, Helena Mäenpää, Leena Valanne, Leena Lauronen

    出版 2014
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  3. 3
    Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland

    Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland 由 Eeva‐Maria Laitinen, Kirsi Vaaralahti, Johanna Tommiska, Elina Eklund, Mari Tervaniemi, Leena Valanne, Taneli Raivio

    出版 2011
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  4. 4
    Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome

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

    出版 2008
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  5. 5
    The effect of surgery in encephalopathy with electrical status epilepticus during sleep

    The effect of surgery in encephalopathy with electrical status epilepticus during sleep 由 Maria Peltola, Elina Liukkonen, Marja‐Liisa Granström, Ritva Paetau, Elisa Kantola‐Sorsa, Leena Valanne, Björn Falck, Göran Blomstedt, Eija Gaily

    出版 2010
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  6. 6
    Long-chain 3-hydroxyacyl–coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients

    Long-chain 3-hydroxyacyl–coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients 由 Tiina Tyni, Aarno Palotie, Lasse Viinikka, Leena Valanne, Matti K. Salo, Ulrika von Döbeln, Sandra L. Jackson, Ronald J. A. Wanders, Nikolaos Venizelos, Helena Pihko

    出版 1997
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  7. 7
    DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis

    DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis 由 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

    出版 2009
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  8. 8
    Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

    Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy 由 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

    出版 2012
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  9. 9
    Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

    Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate 由 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

    出版 2015
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  10. 10
    Effect of Inhaled Xenon on Cerebral White Matter Damage in Comatose Survivors of Out-of-Hospital Cardiac Arrest

    Effect of Inhaled Xenon on Cerebral White Matter Damage in Comatose Survivors of Out-of-Hospital Cardiac Arrest 由 Ruut Laitio, Marja Hynninen, Olli Arola, Sami Virtanen, Riitta Parkkola, Jani Saunavaara, Risto O. Roine, Juha Grönlund, Emmi Ylikoski, Johanna Wennervirta, Minna Bäcklund, Päivi Silvasti, Eija Nukarinen, Marjaana Tiainen, Antti Saraste, Mikko Pietilä, Juhani Airaksinen, Leena Valanne, Juha Martola, Heli Silvennoinen, Harry Scheinin, Veli‐Pekka Harjola, Jussi Niiranen, Kirsi Korpi, Marjut Varpula, Outi Inkinen, Klaus T. Olkkola, Mervyn Maze, Tero Vahlberg, Timo Laitio

    出版 2016
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  11. 11
    Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

    Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis 由 Johanna Tommiska, Johanna Känsäkoski, Lasse Skibsbye, Kirsi Vaaralahti, Xiaonan Liu, Emily J. Lodge, Chuyi Tang, Lei Yuan, Rainer Fagerholm, Jørgen K. Kanters, Päivi Lahermo, Mari Kaunisto, Riikka Keski‐Filppula, Sanna Vuoristo, Kristiina Pulli, Tapani Ebeling, Leena Valanne, Eeva‐Marja Sankila, Sirpa Kivirikko, Mitja Lääperi, Filippo Casoni, Paolo Giacobini, Franziska Phan-Hug, Tal Buki, Manuel Tena‐Sempere, Nelly Pitteloud, Riitta Veijola, Marita Lipsanen‐Nyman, Kari Kaunisto, Patrice Mollard, Cynthia L. Andoniadou, Joel A. Hirsch, Markku Varjosalo, Thomas Jespersen, Taneli Raivio

    出版 2017
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