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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
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[...]
