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Véliz-Otani, Diego ; Inca-Martinez, Miguel ; Bampi, Giovana B. ; Ortega, Olimpio ; Jardim, Laura B. ; Saraiva-Pereira, Maria Luiza ; Mazzetti, Pilar ; Cornejo-Olivas, Mario | Springer Verlag | 2019-08-08T15:23:45ZSpinocerebellar 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 ATXN10 mutability. High [...]texto impreso
Véliz-Otani, Diego ; Inca-Martinez, Miguel ; Bampi, Giovana B. ; Ortega, Olimpio ; Jardim, Laura B. ; Saraiva-Pereira, Maria Luiza ; Mazzetti, Pilar ; Cornejo-Olivas, Mario | Springer Verlag | 2019-12-06T21:02:56ZSpinocerebellar 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 ATXN10 mutability. High [...]texto impreso
Kay, Chris ; Collins, Jennifer A. ; Caron, Nicholas S. ; Agostinho, Luciana de Andrade ; Findlay-Black, Hailey ; Casal, Lorenzo ; Sumathipala, Dulika ; Dissanayake, Vajira H. W. ; Cornejo-Olivas, Mario ; Baine, Fiona ; Krause, Amanda ; Greenberg, Jacquie L. ; Paiva, Carmen Lucia Antao ; Squitieri, Ferdinando ; Hayden, Michael R. | Elsevier | 2019-12-06T21:02:55ZHuntington disease (HD) is a fatal neurodegenerative disorder caused by a gain-of-function mutation in HTT. Suppression of mutant HTT has emerged as a leading therapeutic strategy for HD, with allele-selective approaches targeting HTT SNPs now i[...]texto impreso
Gonzales-Sáenz, Claudia ; Cruz-Rodriguez, Carolina ; Espinoza-Huertas, Keren ; Véliz-Otani, Diego ; Marca, Victoria ; Ortega, Olimpio ; Milla-Neyra, Karina ; Alvarez-Tejada, Jorge ; Mazzetti, Pilar ; Cornejo-Olivas, Mario | Springer Verlag | 2020-07-14T00:01:12ZSpinocerebellar 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 (LN) alleles at spinoc[...]texto impreso
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 | 2019-12-06T21:04:45ZBACKGROUND: 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 susceptibility genetic var[...]texto impreso
Figueroa-Ildefonso, Erick ; Bademci, Guney ; Rajabli, Farid ; Cornejo-Olivas, Mario ; Villanueva, Ruy Diego Chacon ; Badillo-Carrillo, Rodolfo ; Inca-Martinez, Miguel ; Neyra, Karina Milla ; Sineni, Claire ; Tekin, Mustafa | MDPI | 2019-08-08T15:23:45ZHearing loss (HL) is a common sensory disorder affecting over 5% of the global population. The etiology underlying HL includes congenital and acquired causes; genetic factors are the main cause in over 50% of congenital cases. Pathogenic varian[...]texto impreso
Figueroa-Ildefonso, Erick ; Bademci, Guney ; Rajabli, Farid ; Cornejo-Olivas, Mario ; Villanueva, Ruy Diego Chacon ; Badillo-Carrillo, Rodolfo ; Inca-Martinez, Miguel ; Neyra, Karina Milla ; Sineni, Claire ; Tekin, Mustafa | MDPI | 2019-12-06T20:57:42Z: Hearing loss (HL) is a common sensory disorder affecting over 5% of the global population. The etiology underlying HL includes congenital and acquired causes; genetic factors are the main cause in over 50% of congenital cases. Pathogenic vari[...]texto impreso
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 | 2019-12-06T20:57:50ZBACKGROUND: 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 data are available in [...]texto impreso
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 | 2019-07-04T17:01:21ZBackground: 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 data are available in o[...]texto impreso
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. | Nature Research | 2019-01-25T16:20:56ZMutations 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 the frequency of these[...]
