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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

27 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Variants in ATP5F1B are associated with dominantly inherited dystonia.
Nasca A, Mencacci NE, Invernizzi F, Zech M, Keller Sarmiento IJ, Legati A, Frascarelli C, Bustos BI, Romito LM, Krainc D, Winkelmann J, Carecchio M, Nardocci N, Zorzi G, Prokisch H, Lubbe SJ, Garavaglia B, Ghezzi D. Nasca A, et al. Among authors: bustos bi. Brain. 2023 Jul 3;146(7):2730-2738. doi: 10.1093/brain/awad068. Brain. 2023. PMID: 36860166 Free PMC article.
Wnt/β-catenin signaling in Alzheimer's disease.
De Ferrari GV, Avila ME, Medina MA, Perez-Palma E, Bustos BI, Alarcon MA. De Ferrari GV, et al. Among authors: bustos bi. CNS Neurol Disord Drug Targets. 2014;13(5):745-54. doi: 10.2174/1871527312666131223113900. CNS Neurol Disord Drug Targets. 2014. PMID: 24365184 Review.
A novel functional low-density lipoprotein receptor-related protein 6 gene alternative splice variant is associated with Alzheimer's disease.
Alarcón MA, Medina MA, Hu Q, Avila ME, Bustos BI, Pérez-Palma E, Peralta A, Salazar P, Ugarte GD, Reyes AE, Martin GM, Opazo C, Moon RT, De Ferrari GV. Alarcón MA, et al. Among authors: bustos bi. Neurobiol Aging. 2013 Jun;34(6):1709.e9-18. doi: 10.1016/j.neurobiolaging.2012.11.004. Epub 2012 Dec 6. Neurobiol Aging. 2013. PMID: 23218566
Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.
Pérez-Palma E, Bustos BI, Villamán CF, Alarcón MA, Avila ME, Ugarte GD, Reyes AE, Opazo C, De Ferrari GV; Alzheimer's Disease Neuroimaging Initiative; NIA-LOAD/NCRAD Family Study Group. Pérez-Palma E, et al. Among authors: bustos bi. PLoS One. 2014 Apr 22;9(4):e95413. doi: 10.1371/journal.pone.0095413. eCollection 2014. PLoS One. 2014. PMID: 24755620 Free PMC article.
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Steel D, Zech M, Zhao C, Barwick KES, Burke D, Demailly D, Kumar KR, Zorzi G, Nardocci N, Kaiyrzhanov R, Wagner M, Iuso A, Berutti R, Škorvánek M, Necpál J, Davis R, Wiethoff S, Mankad K, Sudhakar S, Ferrini A, Sharma S, Kamsteeg EJ, Tijssen MA, Verschuuren C, van Egmond ME, Flowers JM, McEntagart M, Tucci A, Coubes P, Bustos BI, Gonzalez-Latapi P, Tisch S, Darveniza P, Gorman KM, Peall KJ, Bötzel K, Koch JC, Kmieć T, Plecko B, Boesch S, Haslinger B, Jech R, Garavaglia B, Wood N, Houlden H, Gissen P, Lubbe SJ, Sue CM, Cif L, Mencacci NE, Anderson G, Kurian MA, Winkelmann J; Genomics England Research Consortium. Steel D, et al. Among authors: bustos bi. Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21. Ann Neurol. 2020. PMID: 32808683
Replication assessment of NUS1 variants in Parkinson's disease.
Bustos BI, Bandres-Ciga S, Gibbs JR, Krainc D, Mencacci NE, Gan-Or Z, Lubbe SJ; International Parkinson's Disease Genomics Consortium (IPDGC). Bustos BI, et al. Neurobiol Aging. 2021 May;101:300.e1-300.e3. doi: 10.1016/j.neurobiolaging.2020.11.007. Epub 2020 Nov 13. Neurobiol Aging. 2021. PMID: 33309333 Free PMC article.
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, Suomalainen A, Joset P, Steindl K, Rauch A, Hackenberg A, High FA, Armstrong-Javors A, Mencacci NE, Gonzàlez-Latapi P, Kamel WA, Al-Hashel JY, Bustos BI, Hernandez AV, Krainc D, Lubbe SJ, Van Esch H, De Luca C, Ballon K, Ravelli C, Burglen L, Qebibo L, Calame DG, Mitani T, Marafi D, Pehlivan D, Saadi NW, Sahin Y, Maroofian R, Efthymiou S, Houlden H, Maqbool S, Rahman F, Gu S, Posey JE, Lupski JR, Hunter JV, Wangler MF, Carroll CJ, Yang Y. Meng L, et al. Among authors: bustos bi. Ann Neurol. 2021 Apr;89(4):828-833. doi: 10.1002/ana.26019. Epub 2021 Feb 8. Ann Neurol. 2021. PMID: 33443317 Free article.
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ, Bustos BI, Hu J, Krainc D, Joseph T, Hehir J, Tan M, Zhang W, Escott-Price V, Williams NM, Blauwendraat C, Singleton AB, Morris HR; for International Parkinson’s Disease Genomics Consortium (IPDGC). Lubbe SJ, et al. Among authors: bustos bi. Hum Mol Genet. 2021 Mar 25;30(1):78-86. doi: 10.1093/hmg/ddaa273. Hum Mol Genet. 2021. PMID: 33448283 Free PMC article.
27 results