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ListarNeurología por tema "Genética"

ListarNeurología por tema "Genética"

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  • Advancements in dementia research, diagnostics, and care in Latin America: Highlights from the 2023 Alzheimer's Association International conference satellite symposium in Mexico City 
    Sosa, Ana Luisa; Brucki, Sonia M.; Crivelli, Lucía; Lopera, Francisco Javier; Acosta, Daisy M.; Acosta Uribe, Juliana; Aguilar, Diego; Aguilar Navarro, Sara G.; Allegri, Ricardo Francisco; Bertolucci, Paulo H.; Calandri, Ismael Luis; Carrillo, María C.; Chrem Méndez, Patricio Alexis; Cornejo Olivas, Mario; Custodio, Nilton; Damián, Andrés; Cruz de Souza, Leonardo; Duran Aniotz, Claudia; García, Adolfo M.; Sevlever, Gustavo Emilio (John Wiley & Sons, 2024-05-27)
    Introduction: While Latin America (LatAm) is facing an increasing burden of dementia due to the rapid aging of the population, it remains underrepresented in dementia research, diagnostics, and care. Methods: In 2023, ...
  • Clinical, pathophysiological and genetic features of motor symptoms in autosomal dominant Alzheimer’s disease 
    Vöglein, Jonathan; Paumier, Katrina; Jucker, Mathias; Preische, Oliver; McDade, Eric; Hassenstab, Jason; Benzinger, Tammie L.S.; Noble, James M.; Berman, Sarah B.; Graff-Radford, Neill R.; Ghetti, Bernardino; Farlow, Martin R.; Chhatwal, Jasmeer P.; Salloway, Stephen; Xiong, Chengjie; Karch, Celeste M.; Cairns, Nigel; Mori, Hiroshi; Schofield, Peter R.; Masters, Colin L.; Goate, Alison M.; Buckles, Virginia; Fox, Nick C.; Rossor, Martin N.; Chrem Méndez, Patricio Alexis; Allegri, Ricardo Francisco; Ringman, John M.; Höglinger, Günter U.; Steiner, Harald; Dieterich, Marianne; Haass, Christian; Laske, Christoph; Morris, John C.; Bateman, Randall J.; Danek, Adrian; Levin, Johannes; Dominantly Inherited Alzheimer Network (Oxford, 2019-03-20)
    Owing to an early and marked deposition of amyloid-β in the basal ganglia, autosomal dominant Alzheimer’s disease could distinctly involve motor symptoms. Therefore, we aimed to assess the prevalence and characteristics ...
  • Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review 
    Rossi, Malco Damián; Hamed, Moath; Rodríguez Antigüedad, Jon; Cornejo Olivas, Mario; Breza, Marianthi; Lohmann, Katja; Klein, Christine; Rajalingam, Rajasumi; Marras, Connie; Van de Warrenburg, Bart (Wiley-Liss, 2022-11-14)
    Spinocerebellar ataxia type 17 or ATX-TBP is a CAG/CAA repeat expansion disorder characterized by marked clinical heterogeneity. Reports of affected carriers with subthreshold repeat expansions and of patients with Parkinson's ...
  • A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism 
    Gatto, Emilia M.; Rojas, Galeno J.; Nemirovsky, Sergio I.; Da Prat, Gustavo; Persi, Gabriel; Cesarini, Martin; Etcheverry, Jose L.; Gonzalez Rojas, Natalia; Parisi, Virginia; Cordoba, Marta; Sevlever, Gustavo Emilio; Allegri, Ricardo Francisco; Turjanski, Adrian G. (Elsevier, 2020-08)
    Introduction: Mutations in presenilin-1 (PSEN1) account for the majority of cases of familial autosomal dominant early-onset Alzheimer's disease (AD) as well as in sporadic forms. Atypical presentations are reported including ...
  • A novel mutation in PSEN1 (p.T119I) in an Argentine family with early- and late-onset Alzheimer's disease 
    Itzcovich, Tatiana; Chrem Méndez, Patricio Alexis; Vázquez, Silvia; Barbieri-Kennedy, Micaela; Niikado, Matías; Martinetto, Horacio; Allegri, Ricardo Francisco; Sevlever, Gustavo Emilio; Surace, Ezequiel Ignacio (Elsevier, 2020-01)
    Mutations inPSEN1are the most common cause of early-onset Alzheimer’s disease (AD). In this article,we present an Argentine family with autosomal dominant early- and late-onset AD. The proband and 6family members were ...

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