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  1. No Access

    Protocol

    Copy Number Variation Analysis from SNP Genoty** Microarrays in Large Cohorts of Neurological Disorders

    Copy number variants (CNVs) are a major source of genetic variation in the human genome, and they are highly heterogeneous in type, size, and frequency. CNVs represent the largest portion of genomic variation ...

    Eduardo Pérez-Palma, Lisa-Marie Niestroj… in Genomic Structural Variants in Nervous Sys… (2022)

  2. Article

    Correction to: Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance

    The original version of this article unfortunately contained some mistakes in Table 2. The additional row (just above SCA2) with the following information “SCA1, 1(1), 1, 50, 74, 24, 46 and 0/1” should be inse...

    Mario Cornejo-Olivas, Miguel Inca-Martinez, Raphael Machado Castilhos… in The Cerebellum (2020)

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  3. No Access

    Article

    Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance

    Relative frequency of hereditary ataxias remains unknown in many regions of Latin America. We described the relative frequency in spinocerebellar ataxias (SCA) due to (CAG)n and to (ATTCT)n expansions, as well...

    Mario Cornejo-Olivas, Miguel Inca-Martinez, Raphael Machado Castilhos… in The Cerebellum (2020)

  4. Article

    Open Access

    Economic burden of Huntington’s disease in Peru

    Huntington’s disease (HD) is a devastating and fatal neurodegenerative disorder that leads to progressive disability, and over time to total dependence. The economic impact of HD on patients living in developi...

    Gustavo Silva-Paredes, Rosa M. Urbanos-Garrido… in BMC Health Services Research (2019)

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  5. No Access

    Article

    ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population

    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, ha...

    Diego Véliz-Otani, Miguel Inca-Martinez, Giovana B. Bampi, Olimpio Ortega… in The Cerebellum (2019)

  6. Article

    Open Access

    Erratum: Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson’s disease (LARGE-PD), a case of ancestry

    A correction to this article has been published and is linked from the HTML version of this article.

    Mario Cornejo-Olivas, Luis Torres, Mario R. Velit-Salazar… in npj Parkinson's Disease (2018)

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  7. Article

    Open Access

    Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson’s disease (LARGE-PD), a case of ancestry

    Mutations in Leucine Repeat Rich 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 k...

    Mario Cornejo-Olivas, Luis Torres, Mario R. Velit-Salazar… in npj Parkinson's Disease (2017)

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  8. Article

    Open Access

    The RAB39B p.G192R mutation causes X-linked dominant Parkinson’s disease

    To identify the causal gene in a multi-incident U.S. kindred with Parkinson’s disease (PD).

    Ignacio F. Mata, Yongwoo Jang, Chun-Hyung Kim… in Molecular Neurodegeneration (2015)

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  9. No Access

    Article

    Neurogenetics in Peru: clinical, scientific and ethical perspectives

    Neurogenetics, the science that studies the genetic basis of the development and function of the nervous system, is a discipline of recent development in Peru, an emerging Latin American country. Herein, we re...

    Mario Cornejo-Olivas, Keren Espinoza-Huertas… in Journal of Community Genetics (2015)