Browsing by Author "Atalaia, Antonio"

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  • Atalaia, Antonio; Corvò, Alberto; Piscia, Davide; Matalonga, Leslie; Hernández Ferrer, Carles; Laurie, Steven, 1973-; Lochmüller, Hanns; Bonne, Gisèle (BioMed Central, 2020)
    Background: Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients ...
  • 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 ...

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