Browsing by Author "Phan, Vietxuan"

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  • Kohlschmidt, Nicolai; Elbracht, Miriam; Czech, Artur; Häusler, Martin; Phan, Vietxuan; Töpf, Ana; Huang, Kai-Ting; Bartok, Adam; Eggermann, Katja; Zippel, Stephanie; Eggermann, Thomas; Freier, Erik; Groß, Claudia; Lochmüller, Hanns; Horvath, Rita; Hajnóczky, György; Weis, Joachim; Roos, Andreas (Wiley, 2021)
    Aims: MICU1 encodes the gatekeeper of the mitochondrial Ca2+ uniporter, MICU1 and biallelic loss-of-function mutations cause a complex, neuromuscular disorder in children. Although the role of the protein is well understood, ...
  • 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 (Wolters Kluwer (LWW), 2018)
    Objective: To describe a patient with a multifocal demyelinating motor neuropathy with onset in childhood and a mutation in phosphatase and tensin homolog (PTEN), a tumor suppressor gene associated with inherited tumor ...
  • Cipriani, Silvia; Phan, Vietxuan; Médard, Jean-Jacques; Horvath, Rita; Lochmüller, Hanns; Chrast, Roman; Roos, Andreas; Spendiff, Sally (MDPI, 2018)
    The neuromuscular junction (NMJ) appears to be a site of pathology in a number of peripheral nerve diseases. Charcot-Marie-Tooth (CMT) 4C is an autosomal recessive, early onset, demyelinating neuropathy. Numerous mutations ...

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