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Browsing by Author "Bansagi, Boglarka"

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  • ItemOpen Access
    Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

    (Springer, 2020) McMacken, Grace M.; Lochmüller, Hanns; Bansagi, Boglarka; Pyle, Angela; Lochmüller, Angela; Chinnery, Patrick F.; Laurie, Steven, 1973-; Beltran, Sergi; Matalonga, Leslie; Horvath, Rita

  • ItemOpen Access
    Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation

    (Wolters Kluwer (LWW), 2018) Bansagi, Boglarka; Phan, Vietxuan; Baker, Mark R.; O'Sullivan, Julia; Jennings, Matthew J.; Whittaker, Roger G.; Müller, Juliane; Duff, Jennifer; Griffin, Helen; Miller, James A.L.; Gorman, Grainne S.; Lochmüller, Hanns; Chinnery, Patrick F.; Roos, Andreas; Swan, Laura E.; Horvath, Rita

  • ItemOpen Access
    Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons

    (Oxford University Press, 2018) Boczonadi, Veronika; Meyer, Kathrin; Gonczarowska-Jorge, Humberto; Griffin, Helen; Roos, Andreas; Bartsakoulia, Marina; Bansagi, Boglarka; Ricci, Giulia; Palinkas, Fanni; Zahedi, René P.; Bruni, Francesco; Kaspar, Brian; Lochmüller, Hanns; Boycott, Kym M.; Müller, Juliane; Horvath, Rita

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