Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

69 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.
Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, Tesson C, Vidailhet M, Wurster I, Hentati F, Mirelman A, Giladi N, Marder K, Waters C, Fahn S, Kasten M, Brüggemann N, Borsche M, Foroud T, Tolosa E, Garrido A, Annesi G, Gagliardi M, Bozi M, Stefanis L, Ferreira JJ, Correia Guedes L, Avenali M, Petrucci S, Clark L, Fedotova EY, Abramycheva NY, Alvarez V, Menéndez-González M, Jesús Maestre S, Gómez-Garre P, Mir P, Belin AC, Ran C, Lin CH, Kuo MC, Crosiers D, Wszolek ZK, Ross OA, Jankovic J, Nishioka K, Funayama M, Clarimon J, Williams-Gray CH, Camacho M, Cornejo-Olivas M, Torres-Ramirez L, Wu YR, Lee-Chen GJ, Morgadinho A, Pulkes T, Termsarasab P, Berg D, Kuhlenbäumer G, Kühn AA, Borngräber F, de Michele G, De Rosa A, Zimprich A, Puschmann A, Mellick GD, Dorszewska J, Carr J, Ferese R, Gambardella S, Chase B, Markopoulou K, Satake W, Toda T, Rossi M, Merello M, Lynch T, Olszewska DA, Lim SY, Ahmad-Annuar A, Tan AH, Al-Mubarak B, Hanagasi H, Koziorowski D, Ertan S, Genç G, de Carvalho Aguiar P, Barkhuizen M, Pimentel MMG, Saunders-Pullman R, van de Warrenburg B, Bressman S, Toft M, Appel-Cresswell S, Lang AE, Skorvanek M, Boon AJW, Krüger R, Sammler EM, Tumas V, … See abstract for full author list ➔ Vollstedt EJ, et al. Mov Disord. 2023 Feb;38(2):286-303. doi: 10.1002/mds.29288. Epub 2023 Jan 24. Mov Disord. 2023. PMID: 36692014
MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.
Guevara-Fujita ML, Huaman-Dianderas F, Obispo D, Sánchez R, Barrenechea V, Rojas-Málaga D, Estrada-Cuzcano A, Trubnykova M, Cornejo-Olivas M, Marca V, Gallardo B, Dueñas-Roque M, Protzel A, Castañeda C, Abarca H, Celis L, La Serna-Infantes J, Fujita R. Guevara-Fujita ML, et al. Mol Genet Genomic Med. 2021 Sep;9(9):e1759. doi: 10.1002/mgg3.1759. Epub 2021 Jul 29. Mol Genet Genomic Med. 2021. PMID: 34327855 Free PMC article.
[Kennedy disease in Peru: first cases with molecular diagnosis].
Gómez-Calero V, Cornejo-Olivas M, Ortega O, Marca V, Lindo-Samanamud S, Flores M, Torres-Ramírez L, Mazzetti P. Gómez-Calero V, et al. Rev Peru Med Exp Salud Publica. 2013 Apr;30(2):331-5. Rev Peru Med Exp Salud Publica. 2013. PMID: 23949524 Free article. Spanish.
Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson's disease (LARGE-PD), a case of ancestry.
Cornejo-Olivas M, Torres L, Velit-Salazar MR, Inca-Martinez M, Mazzetti P, Cosentino C, Micheli F, Perandones C, Dieguez E, Raggio V, Tumas V, Borges V, Ferraz HB, Rieder CRM, Shumacher-Schuh A, Velez-Pardo C, Jimenez-Del-Rio M, Lopera F, Chang-Castello J, Andreé-Munoz B, Waldherr S, Yearout D, Zabetian CP, Mata IF. Cornejo-Olivas M, et al. NPJ Parkinsons Dis. 2017 Jun 2;3:19. doi: 10.1038/s41531-017-0020-6. eCollection 2017. NPJ Parkinsons Dis. 2017. PMID: 28649619 Free PMC article.
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.
Cornejo-Olivas M, Torres L, Velit-Salazar MR, Inca-Martinez M, Mazzetti P, Cosentino C, Micheli F, Perandones C, Dieguez E, Raggio V, Tumas V, Borges V, Ferraz HB, Rieder CRM, Shumacher-Schuh A, Velez-Pardo C, Jimenez-Del-Rio M, Lopera F, Chang-Castello J, Andreé-Munoz B, Waldherr S, Yearout D, Zabetian CP, Mata IF. Cornejo-Olivas M, et al. NPJ Parkinsons Dis. 2018 Jan 19;4:3. doi: 10.1038/s41531-017-0025-1. eCollection 2018. NPJ Parkinsons Dis. 2018. PMID: 29367946 Free PMC article.
Huntington's disease-like disorders in Latin America and the Caribbean.
Walker RH, Gatto EM, Bustamante ML, Bernal-Pacheco O, Cardoso F, Castilhos RM, Chana-Cuevas P, Cornejo-Olivas M, Estrada-Bellmann I, Jardim LB, López-Castellanos R, López-Contreras R, Maia DP, Mazzetti P, Miranda M, Rodríguez-Violante M, Teive H, Tumas V. Walker RH, et al. Parkinsonism Relat Disord. 2018 Aug;53:10-20. doi: 10.1016/j.parkreldis.2018.05.021. Epub 2018 May 21. Parkinsonism Relat Disord. 2018. PMID: 29853295 Review.
Age- and disease-dependent increase of the mitophagy marker phospho-ubiquitin in normal aging and Lewy body disease.
Hou X, Fiesel FC, Truban D, Castanedes Casey M, Lin WL, Soto AI, Tacik P, Rousseau LG, Diehl NN, Heckman MG, Lorenzo-Betancor O, Ferrer I, Arbelo JM, Steele JC, Farrer MJ, Cornejo-Olivas M, Torres L, Mata IF, Graff-Radford NR, Wszolek ZK, Ross OA, Murray ME, Dickson DW, Springer W. Hou X, et al. Autophagy. 2018;14(8):1404-1418. doi: 10.1080/15548627.2018.1461294. Epub 2018 Jul 28. Autophagy. 2018. PMID: 29947276 Free PMC article.
69 results