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ListarMovimientos Anormales por tema "Genética"

ListarMovimientos Anormales por tema "Genética"

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  • 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 ...

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