Browsing by Author "Gorman, Grainne S."

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  • Jimenez-Moreno, Aura Cecilia; Nikolenko, Nikoletta; Kierkegaard, Marie; Blain, Alasdair P.; Newman, Jane; Massey, Charlotte; Moat, Dionne; Sodhi, Jas; Atalaia, Antonio; Gorman, Grainne S.; Turner, Chris; Lochmüller, Hanns (Wiley, 2019)
    Objectives: Defining clinically relevant outcome measures for myotonic dystrophy type 1 (DM1) that can be valid and feasible for different phenotypes has proven problematic. The Outcome Measures for Myotonic Dystrophy ...
  • Kakouri, Andrea C.; Koutalianos, Demetris; Koutsoulidou, Andrie; Oulas, Anastasis; Tomazou, Marios; Nikolenko, Nikoletta; Turner, Chris; Roos, Andreas; Lusakowska, Anna; Janiszewska, Katarzyna; Papadimas, George K.; Papadopoulos, Constantinos; Kararizou, Evangelia; Papanicolaou, Eleni Zamba; Gorman, Grainne S.; Lochmüller, Hanns; Spyrou, George M.; Phylactou, Leonidas A. (Taylor and Francis, 2022)
    Muscular dystrophies are a group of rare and severe inherited disorders mainly affecting the muscle tissue. Duchene Muscular Dystrophy, Myotonic Dystrophy types 1 and 2, Limb Girdle Muscular Dystrophy and Facioscapulohumeral ...
  • 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 ...

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