Publications by authors named "Pilar Mazzetti"

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Parkinson's Disease Gene Screening in Familial Cases from Central and South America.
Oswaldo Lorenzo-Betancor, Seysha Mehta, Janvi Ramchandra, Sekinat Mumuney, Artur F Schumacher-Schuh, Pilar Mazzetti

Mov Disord· October 2024

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Machado Joseph-Disease Is Rare in the Peruvian Population.
Mario Cornejo-Olivas, Lesly Solis-Ponce, Ismael Araujo-Aliaga, Karina Milla-Neyra, Olimpio Ortega, Pilar Mazzetti

Cerebellum· December 2023

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Juvenile-Onset Huntington's Disease in Peru: A Case Series of 32 Patients.
Anastasia Vishnevetsky, Mario Cornejo-Olivas, Elison Sarapura-Castro, Miguel Inca-Martinez, Danielle Rabinowitz, Pilar Mazzetti

Mov Disord Clin Pract· February 2023

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Polygenic risk prediction and SNCA haplotype analysis in a Latino Parkinson's disease cohort.
Douglas P Loesch, Andrea R V R Horimoto, Elif Irem Sarihan, Miguel Inca-Martinez, Emily Mason, Pilar Mazzetti

Parkinsonism Relat Disord· September 2022

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Characterizing the Genetic Architecture of Parkinson's Disease in Latinos.
Douglas P Loesch, Andrea R V R Horimoto, Karl Heilbron, Elif I Sarihan, Miguel Inca-Martinez, Pilar Mazzetti

Ann Neurol· September 2021

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Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients.
Elif Irem Sarihan, Eduardo Pérez-Palma, Lisa-Marie Niestroj, Douglas Loesch, Miguel Inca-Martinez, Pilar Mazzetti

Mov Disord· February 2021

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Distribution of the CAG Triplet Repeat in ATXN1, ATXN3, and CACNA1A Loci in Peruvian Population.
Claudia Gonzales-Sáenz, Carolina Cruz-Rodriguez, Keren Espinoza-Huertas, Diego Véliz-Otani, Victoria Marca, Pilar Mazzetti

Cerebellum· August 2020

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Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance.
Mario Cornejo-Olivas, Miguel Inca-Martinez, Raphael Machado Castilhos, Gabriel Vasata Furtado, Eduardo Preusser Mattos, Pilar Mazzetti

Cerebellum· April 2020

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Correction to: Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance.
Mario Cornejo-Olivas, Miguel Inca-Martinez, Raphael Machado Castilhos, Gabriel Vasata Furtado, Eduardo Preusser Mattos, Pilar Mazzetti

Cerebellum· April 2020

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ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population.
Diego Véliz-Otani, Miguel Inca-Martinez, Giovana B Bampi, Olimpio Ortega, Laura B Jardim, Pilar Mazzetti

Cerebellum· October 2019

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Guillain-Barre syndrome outbreak in Peru: Association with polymorphisms in IL-17, ICAM1, and CD1.
Luis Jaramillo-Valverde, Kelly S Levano, Isolina Villanueva, Meylin Hidalgo, Marco Cornejo, Pilar Mazzetti

Mol Genet Genomic Med· October 2019

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The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru.
Carlos Velez-Pardo, Oswaldo Lorenzo-Betancor, Marlene Jimenez-Del-Rio, Sonia Moreno, Francisco Lopera, Pilar Mazzetti

Parkinsonism Relat Disord· June 2019

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Genetics and genomics in Peru: Clinical and research perspective.
Heinner Guio, Julio A Poterico, Kelly S Levano, Mario Cornejo-Olivas, Pilar Mazzetti

Mol Genet Genomic Med· November 2018

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Huntington's disease-like disorders in Latin America and the Caribbean.
Ruth H Walker, Emilia M Gatto, M Leonor Bustamante, Oscar Bernal-Pacheco, Francisco Cardoso, Pilar Mazzetti

Parkinsonism Relat Disord· August 2018

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Neurology outreach clinic for Huntington disease in Peru: Lessons for neurodegenerative diseases.
Anastasia Vishnevetsky, Maryenela Illanes-Manrique, Miguel Inca-Martinez, Karina Milla-Neyra, Elison Sarapura-Castro, Pilar Mazzetti

Neurology· August 2018

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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.
Mario Cornejo-Olivas, Luis Torres, Mario R Velit-Salazar, Miguel Inca-Martinez, Pilar Mazzetti

NPJ Parkinsons Dis· January 2018

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Variable frequency of variants in the Latin American research consortium on the genetics of Parkinson's disease (LARGE-PD), a case of ancestry.
Mario Cornejo-Olivas, Luis Torres, Mario R Velit-Salazar, Miguel Inca-Martinez, Pilar Mazzetti

NPJ Parkinsons Dis· June 2017

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The targetable A1 Huntington disease haplotype has distinct Amerindian and European origins in Latin America.
Chris Kay, Indira Tirado-Hurtado, Mario Cornejo-Olivas, Jennifer A Collins, Galen Wright, Pilar Mazzetti

Eur J Hum Genet· February 2017

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ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America.
Fernanda S Pereira, Thais L Monte, Lucas D Locks-Coelho, Amanda S P Silva, Orlando Barsottini, Pilar Mazzetti

Cerebellum· December 2015

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Clinical and Molecular Features of Late Onset Huntington Disease in a Peruvian Cohort.
Mario R Cornejo-Olivas, Miguel A Inca-Martinez, Keren Espinoza-Huertas, Diego Veliz-Otani, Mario R Velit-Salazar, Pilar Mazzetti

J Huntingtons Dis· October 2015

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[Neurogenetics in Peru, example of translational research].
Pilar Mazzetti, Miguel Inca-Martínez, Indira Tirado-Hurtado, Karina Milla-Neyra, Gustavo Silva-Paredes

Rev Peru Med Exp Salud Publica· October 2015

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Neurogenetics in Peru: clinical, scientific and ethical perspectives.
Mario Cornejo-Olivas, Keren Espinoza-Huertas, Mario R Velit-Salazar, Diego Veliz-Otani, Indira Tirado-Hurtado, Pilar Mazzetti

J Community Genet· July 2015

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A Peruvian family with a novel PARK2 mutation: Clinical and pathological characteristics.
Mario R Cornejo-Olivas, Luis Torres, Ignacio F Mata, Pilar Mazzetti, Diana Rivas

Parkinsonism Relat Disord· May 2015

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Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease.
Mario R Cornejo-Olivas, Chang-En Yu, Pilar Mazzetti, Ignacio F Mata, Maria Meza

Neurosci Lett· March 2014

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[Kennedy disease in Peru: first cases with molecular diagnosis].
Víctor Gómez-Calero, Mario Cornejo-Olivas, Olimpio Ortega, Victoria Marca, Saúl Lindo-Samanamud, Pilar Mazzetti

Rev Peru Med Exp Salud Publica· April 2013

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