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Page 1
A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family.
Chacaltana-Vinas C, Ramirez-Pajares P, Manrique-Palomino A, Clause AR, Chawla A, Thorpe E, Taft R, Rivera-Valdivia A, Sarapura-Castro E, Bazalar-Montoya J, Cornejo-Olivas M. Chacaltana-Vinas C, et al. Among authors: sarapura castro e. Mov Disord Clin Pract. 2024 Jun;11(6):746-748. doi: 10.1002/mdc3.14025. Epub 2024 Mar 26. Mov Disord Clin Pract. 2024. PMID: 38532471 No abstract available.
X-Chromosome Association Study in Latin American Cohorts Identifies New Loci in Parkinson's Disease.
Leal TP, Rao SC, French-Kwawu JN, Gouveia MH, Borda V, Bandres-Ciga S, Inca-Martinez M, Mason EA, Horimoto ARVR, Loesch DP, Sarihan EI, Cornejo-Olivas MR, Torres LE, Mazzetti-Soler PE, Cosentino C, Sarapura-Castro EH, Rivera-Valdivia A, Medina AC, Dieguez EM, Raggio VE, Lescano A, Tumas V, Borges V, Ferraz HB, Rieder CR, Schumacher Schuh A, Santos-Lobato BL, Velez-Pardo C, Jimenez-Del-Rio M, Lopera F, Moreno S, Chana-Cuevas P, Fernandez W, Arboleda G, Arboleda H, Arboleda Bustos CE, Yearout D, Barbosa MT, Cardoso FEC, Caramelli P, Cunningham MCQ, Maia DP, Lima-Costa MF, Tarazona-Santos E, Zabetian CP; International Parkinson Disease Genomics Consortium (IPDGC); Thornton TA, O'Connor TD, Mata IF; Latin American Research Consortium on the Genetics of Parkinson's Disease (LARGE-PD). Leal TP, et al. Among authors: sarapura castro eh. Mov Disord. 2023 Sep;38(9):1625-1635. doi: 10.1002/mds.29508. Epub 2023 Jul 20. Mov Disord. 2023. PMID: 37469269
Juvenile-Onset Huntington's Disease in Peru: A Case Series of 32 Patients.
Vishnevetsky A, Cornejo-Olivas M, Sarapura-Castro E, Inca-Martinez M, Rabinowitz D, Milla-Neyra K, Mazzetti P, Bird T. Vishnevetsky A, et al. Among authors: sarapura castro e. Mov Disord Clin Pract. 2022 Dec 2;10(2):238-247. doi: 10.1002/mdc3.13625. eCollection 2023 Feb. Mov Disord Clin Pract. 2022. PMID: 36825038 Free PMC article.
X-Chromosome Association Study in Latin American Cohorts Identifies New Loci in Parkinson Disease.
Leal TP, French-Kwawu JN, Gouveia MH, Borda V, Inca-Martinez M, Mason EA, Horimoto AR, Loesch DP, Sarihan EI, Cornejo-Olivas MR, Torres LE, Mazzetti-Soler PE, Cosentino C, Sarapura-Castro EH, Rivera-Valdivia A, Medina AC, Dieguez EM, Raggio VE, Lescano A, Tumas V, Borges V, Ferraz HB, Rieder CR, Schumacher-Schuh A, Santos-Lobato BL, Velez-Pardo C, Jimenez-Del-Rio M, Lopera F, Moreno S, Chana-Cuevas P, Fernandez W, Arboleda G, Arboleda H, Arboleda Bustos CE, Yearout D, Lima-Costa MF, Tarazona E, Zabetian C, Thornton TA, O'Connor TD, Mata IF. Leal TP, et al. Among authors: sarapura castro eh. medRxiv [Preprint]. 2023 Feb 2:2023.01.31.23285199. doi: 10.1101/2023.01.31.23285199. medRxiv. 2023. Update in: Mov Disord. 2023 Sep;38(9):1625-1635. doi: 10.1002/mds.29508. PMID: 36778409 Free PMC article. Updated. Preprint.
Machado Joseph-Disease Is Rare in the Peruvian Population.
Cornejo-Olivas M, Solis-Ponce L, Araujo-Aliaga I, Milla-Neyra K, Ortega O, Illanes-Manrique M, Mazzetti P, Manrique-Enciso C, Cubas-Montecino D, Saraiva-Pereira ML, Jardim LB, Sarapura-Castro E. Cornejo-Olivas M, et al. Among authors: sarapura castro e. Cerebellum. 2023 Dec;22(6):1192-1199. doi: 10.1007/s12311-022-01491-4. Epub 2022 Nov 3. Cerebellum. 2023. PMID: 36323979
Polygenic risk prediction and SNCA haplotype analysis in a Latino Parkinson's disease cohort.
Loesch DP, Horimoto ARVR, Sarihan EI, Inca-Martinez M, Mason E, Cornejo-Olivas M, Torres L, Mazzetti P, Cosentino C, Sarapura-Castro E, Rivera-Valdivia A, Medina AC, Dieguez E, Raggio V, Lescano A, Tumas V, Borges V, Ferraz HB, Rieder CR, Schumacher-Schuh A, Santos-Lobato BL, Velez-Pardo C, Jimenez-Del-Rio M, Lopera F, Moreno S, Chana-Cuevas P, Fernandez W, Arboleda G, Arboleda H, Arboleda-Bustos CE, Yearout D, Zabetian CP; International Parkinson Disease Genomics Consortium (IPDGC); Thornton TA, Mata IF, O'Connor TD; Latin American Research Consortium on the Genetics of Parkinson's Disease (LARGE-PD). Loesch DP, et al. Among authors: sarapura castro e. Parkinsonism Relat Disord. 2022 Sep;102:7-15. doi: 10.1016/j.parkreldis.2022.06.010. Epub 2022 Jun 18. Parkinsonism Relat Disord. 2022. PMID: 35917738 Free PMC article.
Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients.
Gama MTD, Braga-Neto P, Rangel DM, Godeiro C Jr, Alencar R, Embiruçu EK, Cornejo-Olivas M, Sarapura-Castro E, Saffie Awad P, Muñoz Chesta D, Kauffman M, Rodriguez-Quiroga S, Jardim LB, da Graça FF, França MC Jr, Tomaselli PJ, Marques W Jr, Teive HAG, Barsottini OGP, Pedroso JL, Synofzik M. Gama MTD, et al. Among authors: sarapura castro e. Mov Disord. 2022 Aug;37(8):1773-1774. doi: 10.1002/mds.29046. Epub 2022 May 4. Mov Disord. 2022. PMID: 35507441 No abstract available.
Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the ATM Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family.
Rodriguez RS, Cornejo-Olivas M, Bazalar-Montoya J, Sarapura-Castro E, Torres-Loarte M, Rivera-Valdivia A, Sullcahuaman-Allende Y. Rodriguez RS, et al. Among authors: sarapura castro e. Mol Syndromol. 2021 Aug;12(5):289-293. doi: 10.1159/000515696. Epub 2021 Jun 17. Mol Syndromol. 2021. PMID: 34602955 Free PMC article.
Characterizing the Genetic Architecture of Parkinson's Disease in Latinos.
Loesch DP, Horimoto ARVR, Heilbron K, Sarihan EI, Inca-Martinez M, Mason E, Cornejo-Olivas M, Torres L, Mazzetti P, Cosentino C, Sarapura-Castro E, Rivera-Valdivia A, Medina AC, Dieguez E, Raggio V, Lescano A, Tumas V, Borges V, Ferraz HB, Rieder CR, Schumacher-Schuh A, Santos-Lobato BL, Velez-Pardo C, Jimenez-Del-Rio M, Lopera F, Moreno S, Chana-Cuevas P, Fernandez W, Arboleda G, Arboleda H, Arboleda-Bustos CE, Yearout D, Zabetian CP; 23andMe Research Team; Cannon P, Thornton TA, O'Connor TD, Mata IF; Latin American Research Consortium on the Genetics of Parkinson's Disease (LARGE-PD). Loesch DP, et al. Among authors: sarapura castro e. Ann Neurol. 2021 Sep;90(3):353-365. doi: 10.1002/ana.26153. Epub 2021 Jul 22. Ann Neurol. 2021. PMID: 34227697 Free PMC article.
Early sensory disturbances and seizures are common manifestations of familial Creutzfeldt-Jakob disease due to E200K PRNP mutation: Case report from two Peruvian families.
Sarapura-Castro E, Cosentino C, Landman J, Landman A, Torres L, Nuñez Y, Capellari S, Parchi P, Cornejo-Olivas M. Sarapura-Castro E, et al. Clin Neurol Neurosurg. 2021 Mar;202:106490. doi: 10.1016/j.clineuro.2021.106490. Epub 2021 Jan 12. Clin Neurol Neurosurg. 2021. PMID: 33454496 Free PMC article. No abstract available.
13 results