Repositorio Dspace

Listar por tema "Genetic Association Studies"

Listar por tema "Genetic Association Studies"

Ordenar por:Orden:Resultados:

  • 'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies 
    Garibaldi, Matteo; Rendu, John; Brocard, Julie; Lacene, Emmanuelle; Fauré, Julien; Brochier, Guy; Beuvin, Maud; Labasse, Clemence; Madelaine, Angeline; Malfatti, Edoardo; Bevilacqua, Jorge Alfredo; Lubieniecki, Fabiana; Monges, Soledad; Taratuto, Ana Lía; Laporte, Jocelyn; Marty, Isabelle; Antonini, Giovanni; Romero, Norma Beatriz (BioMed Central, 2019-01-05)
    Several morphological phenotypes have been associated to RYR1-recessive myopathies. We recharacterized the RYR1-recessive morphological spectrum by a large monocentric study performed on 54 muscle biopsies from a large ...
  • Seizures as an early symptom of autosomal dominant Alzheimer's disease 
    Vöglein, Jonathan; Noachtar, Soheyl; McDade, Eric; Quaid, Kimberly A.; Salloway, Stephen; Ghetti, Bernardino; Noble, James M.; Berman, Sarah B.; Chhatwal, Jasmeer P.; Mori, Hiroshi; Fox, Nick C.; Allegri, Ricardo Francisco; Masters, Colin L.; Buckles, Virginia; Ringman, John M.; Rossor, Martin N.; Schofield, Peter R.; Sperling, Reisa; Jucker, Mathias; Dominantly Inherited Alzheimer Network (Elsevier, 2018-12-05)
    Our objective was to assess the reported history of seizures in cognitively asymptomatic mutation carriers for autosomal dominant Alzheimer's disease (ADAD) and the predictive value of seizures for mutation carrier status ...