Ngā hua rapu - Kalliopi Sofou

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  1. 1
    One in five patients with Duchenne muscular dystrophy dies from other causes than cardiac or respiratory failure

    One in five patients with Duchenne muscular dystrophy dies from other causes than cardiac or respiratory failure mā L. Wahlgren, Anna‐Karin Kroksmark, M. Tulinius, Kalliopi Sofou

    I whakaputaina 2021
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  2. 2
    Ketogenic diet in pyruvate dehydrogenase complex deficiency: short‐ and long‐term outcomes

    Ketogenic diet in pyruvate dehydrogenase complex deficiency: short‐ and long‐term outcomes mā Kalliopi Sofou, Maria Dahlin, T Hallböök, Marie Lindefeldt, Gerd Viggedal, Niklas Darín

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  3. 3
    Respiratory comorbidities and treatments in Duchenne muscular dystrophy: impact on life expectancy and causes of death

    Respiratory comorbidities and treatments in Duchenne muscular dystrophy: impact on life expectancy and causes of death mā L. Wahlgren, Anna‐Karin Kroksmark, Anders Lindblad, M. Tulinius, Kalliopi Sofou

    I whakaputaina 2024
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    Whole exome sequencing reveals mutations in<i>NARS2</i>and<i>PARS2</i>, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome

    Whole exome sequencing reveals mutations in<i>NARS2</i>and<i>PARS2</i>, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers s... mā Kalliopi Sofou, Gittan Kollberg, Maria Holmström, Marcela Dávila López, Niklas Darín, Claes M. Gustafsson, Elisabeth Holme, Anders Oldfors, M. Tulinius, Jorge Asin-Cayuela

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    A multicenter study on Leigh syndrome: disease course and predictors of survival

    A multicenter study on Leigh syndrome: disease course and predictors of survival mā 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

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

    KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia mā Maartje Pennings, Meyke Schouten, Judith van Gaalen, Rowdy Meijer, Susanne T. de Bot, Marjolein Kriek, Christiaan G. J. Saris, Leonard H. van den Berg, Michael A. van Es, Dick M. H. Zuidgeest, Mariet W. Elting, Jiddeke M. van de Kamp, Karin Y. van Spaendonck‐Zwarts, Christine de Die‐Smulders, Eva H. Brilstra, Corien Verschuuren, Bert B.A. de Vries, Jacques Bruijn, Kalliopi Sofou, Floor A.M. Duijkers, Bregje Jaeger, Jolanda Schieving, Bart P.C. van de Warrenburg, Erik-Jan Kamsteeg

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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