Listar por autor "Mazzetti, Pilar"

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  • ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population 
    Veliz-Otani, Diego; Inca-Martinez, Miguel; Bampi, Giovana B.; Ortega, Olimpio; Jardim, Laura B.; Saraiva-Pereira, Maria Luiza; Mazzetti, Pilar; Cornejo-Olivas, Mario (Springer, 2019)
    Spinocerebellar ataxia type 10 (SCA10) is a repeat expansion disease occurring mostly in Latin America, suggesting that the mutation spread with the peopling of the Americas, or that Amerindian populations, have a higher ...
  • Characterizing the Genetic Architecture of Parkinson's Disease in Latinos 
    Loesch, Douglas P.; Horimoto, Andrea R. V. R.; Heilbron, Karl; Sarihan, Elif I.; Inca-Martinez, Miguel; Mason, Emily; Cornejo-Olivas, Mario; Torres, Luis; Mazzetti, Pilar; Cosentino, Carlos; Sarapura-Castro, Elison; Rivera-Valdivia, Andrea; Medina, Angel C.; Dieguez, Elena; Raggio, Victor; Lescano, Andrés; Tumas, Vitor; Borges, Vanderci; Ferraz, Henrique B.; Rieder, Carlos R.; Schumacher-Schuh, Artur; Santos-Lobato, Bruno L.; Velez-Pardo, Carlos; Jimenez-Del-Rio, Marlene; Lopera, Francisco; Moreno, Sonia; Chana-Cuevas, Pedro; Fernandez, William; Arboleda, Gonzalo; Arboleda, Humberto; Arboleda-Bustos, Carlos E.; Yearout, Dora; Zabetian, Cyrus P.; Cannon, Paul; Thornton, Timothy A.; O'Connor, Timothy D.; Mata, Ignacio F.; Latin Amer Res Consortium Genetics (Wiley, 2021)
    Objective This work was undertaken in order to identify Parkinson's disease (PD) risk variants in a Latino cohort, to describe the overlap in the genetic architecture of PD in Latinos compared to European-ancestry subjects, ...
  • Distonías primarias respondedoras a levodopa (DRD): búsqueda sistemática en Latinoamérica 
    Zelada-Ríos, Laura; Sarapura-Castro, Elison; Solórzano-Palacios, Karol; Serna-Infantes, Jorge La; Aguirre-Quispe, Wilfor; Cosentino-Esquerre, Carlos; Urbina-Ramírez, Luis; Torres-Ramírez, Luis; Mazzetti, Pilar; Cornejo-Olivas, Mario (Universidad Peruana Cayetano Heredia, 2022)
    Dopa-responsive dystonia (DRD) encompasses a heterogenous group of primary dystonias, caused by enzymatic deficiencies across the amines pathway and, by definition, show as their main characteristic a favorable and sustained ...
  • The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru 
    Velez-Pardo, Carlos; Lorenzo-Betancor, Oswaldo; Jimenez-Del-Rio, Marlene; Moreno, Sonia; Lopera, Francisco; Cornejo-Olivas, Mario; Torres, Luis; Inca-Martinez, Miguel; Mazzetti, Pilar; Cosentino, Carlos; Yearout, Dora; Waldherr, Sarah M.; Zabetian, Cyrus P.; Mata, Ignacio F. (Elsevier, 2019)
    Background: Mutations in the glucocerebrosidase (GBA) gene are an important risk factor for Parkinson's disease (PD). However, most GBA genetic studies in PD have been performed in patients of European origin and very few ...
  • Distribution of the CAG Triplet Repeat in ATXN1, ATXN3, and CACNA1A Loci in Peruvian Population 
    Gonzales-Sáenz, Claudia; Cruz-Rodriguez, Carolina; Espinoza Huertas, Keren Antonieta; Véliz-Otani, Diego; Marca, Victoria; Ortega, Olimpio; Milla-Neyra, Karina; Alvarez-Tejada, Jorge; Mazzetti, Pilar; Cornejo-Olivas, Mario (Springer, 2020)
    Spinocerebellar ataxia subtypes 1, 3, and 6 (SCA1, MJD/SCA3, and SCA6) are among the most prevalent autosomal dominant cerebellar ataxias worldwide, but their relative frequencies in Peru are low. Frequency of large normal ...
  • Guillain-Barre syndrome outbreak in Peru: Association with polymorphisms in IL-17, ICAM1, and CD1 
    Jaramillo-Valverde, Luis; Levano, Kelly S.; Villanueva, Isolina; Hidalgo, Meylin; Cornejo, Marco; Mazzetti, Pilar; Cornejo-Olivas, Mario; Sanchez, Cesar; Poterico, Julio A.; Valdivia-Silva, Julio; Guio, Heinner (Wiley, 2019)
    BACKGROUND: Guillain-Barre Syndrome (GBS) is considered a complex disorder with significant environmental effect and genetic susceptibility. Genetic polymorphisms in CD1E, CD1A, IL-17, and/or ICAM1 had been proposed as ...
  • Polygenic risk prediction and SNCA haplotype analysis in a Latino Parkinson's disease cohort 
    Loesch, Douglas P.; Horimoto, Andrea R. V. R.; Sarihan, Elif Irem; Inca-Martinez, Miguel; Mason, Emily; Cornejo-Olivas, Mario; Torres, Luis; Mazzetti, Pilar; Cosentino, Carlos; Sarapura-Castro, Elison; Rivera-Valdivia, Andrea; Medina, Angel C.; Dieguez, Elena; Raggio, Victor; Lescano, Andrés; Tumas, Vitor; Borges, Vanderci; Ferraz, Henrique B.; Rieder, Carlos R.; Schumacher-Schuh, Artur; Santos-Lobato, Bruno L.; Velez-Pardo, Carlos; Jimenez-Del-Rio, Marlene; Lopera, Francisco; Moreno, Sonia; Chana-Cuevas, Pedro; Fernandez, William; Arboleda, Gonzalo; Arboleda, Humberto; Arboleda-Bustos, Carlos E.; Yearout, Dora; Zabetian, Cyrus P; Thornton, Timothy A.; Mata, Ignacio F.; O'Connor, Timothy D.; International Parkinson Disease Genomics Consortium (IPDGC); Latin American Research Consortium on the Genetics of Parkinson's Disease (LARGE-PD) (Elsevier, 2022)
    Background: Large-scale Parkinson's disease (PD) genome-wide association studies (GWAS) have, until recently, only been conducted on subjects with European-ancestry. Consequently, polygenic risk scores (PRS) constructed ...
  • Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson's disease (LARGE-PD), a case of ancestry 
    Cornejo-Olivas, Mario; Torres, Luis; Velit-Salazar, Mario R.; Inca-Martinez, Miguel; Mazzetti, Pilar; Cosentino, Carlos; Micheli, Federico; Perandones, Claudia; Dieguez, Elena; Raggio, Victor; Tumas, Vitor; Borges, Vanderci; Ferraz, Henrique B.; Rieder, Carlos R. M.; Shumacher-Schuh, Artur; Velez-Pardo, Carlos; Jimenez-Del-Rio, Marlene; Lopera, Francisco; Chang-Castello, Jorge; Andreé-Munoz, Brennie; Waldherr, Sarah; Yearout, Dora; Zabetian, Cyrus P.; Mata, Ignacio F. (Springer, 2017)
    Mutations in Leucine-Rich Repeat Kinase 2 (LRRK2), primarily located in codons G2019 and R1441, represent the most common genetic cause of Parkinson's disease in European-derived populations. However, little is known about ...

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