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

257 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Iron metabolism in mice with partial frataxin deficiency.
Santos MM, Miranda CJ, Levy JE, Montross LK, Cossée M, Sequeiros J, Andrews N, Koenig M, Pandolfo M. Santos MM, et al. Among authors: sequeiros j. Cerebellum. 2003;2(2):146-53. doi: 10.1080/14734220309408. Cerebellum. 2003. PMID: 12880182
Frataxin knockin mouse.
Miranda CJ, Santos MM, Ohshima K, Smith J, Li L, Bunting M, Cossée M, Koenig M, Sequeiros J, Kaplan J, Pandolfo M. Miranda CJ, et al. Among authors: sequeiros j. FEBS Lett. 2002 Feb 13;512(1-3):291-7. doi: 10.1016/s0014-5793(02)02251-2. FEBS Lett. 2002. PMID: 11852098 Free article.
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Moreira MC, Klur S, Watanabe M, Németh AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schöls L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M'Zahem A, Dunne E, Bomont P, Benhassine T, Bouslam N, Stevanin G, Brice A, Guimarães J, Mendonça P, Barbot C, Coutinho P, Sequeiros J, Dürr A, Warter JM, Koenig M. Moreira MC, et al. Among authors: sequeiros j. Nat Genet. 2004 Mar;36(3):225-7. doi: 10.1038/ng1303. Epub 2004 Feb 8. Nat Genet. 2004. PMID: 14770181 Free article.
Frataxin overexpressing mice.
Miranda CJ, Santos MM, Ohshima K, Tessaro M, Sequeiros J, Pandolfo M. Miranda CJ, et al. Among authors: sequeiros j. FEBS Lett. 2004 Aug 13;572(1-3):281-8. doi: 10.1016/j.febslet.2004.07.022. FEBS Lett. 2004. PMID: 15304363 Free article.
Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.
Costa MDC, Teixeira-Castro A, Constante M, Magalhães M, Magalhães P, Cerqueira J, Vale J, Passão V, Barbosa C, Robalo C, Coutinho P, Barros J, Santos MM, Sequeiros J, Maciel P. Costa MDC, et al. Among authors: sequeiros j. J Hum Genet. 2006;51(8):645-651. doi: 10.1007/s10038-006-0001-9. Epub 2006 Jul 21. J Hum Genet. 2006. PMID: 16858508 Free PMC article.
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
Roux T, Barbier M, Papin M, Davoine CS, Sayah S, Coarelli G, Charles P, Marelli C, Parodi L, Tranchant C, Goizet C, Klebe S, Lohmann E, Van Maldergem L, van Broeckhoven C, Coutelier M, Tesson C, Stevanin G, Duyckaerts C, Brice A, Durr A; SPATAX network. Roux T, et al. Genet Med. 2020 Nov;22(11):1851-1862. doi: 10.1038/s41436-020-0899-x. Epub 2020 Jul 27. Genet Med. 2020. PMID: 32713943 Free article.
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy.
Weber JJ, Czisch L, Pereira Sena P, Fath F, Huridou C, Schwarz N, Incebacak Eltemur RD, Würth A, Weishäupl D, Döcker M, Blumenstock G, Martins S, Sequeiros J, Rouleau GA, Jardim LB, Saraiva-Pereira ML, França MC Jr, Gordon CR, Zaltzman R, Cornejo-Olivas MR, van de Warrenburg BPC, Durr A, Brice A, Bauer P, Klockgether T, Schöls L, Riess O; EUROSCA Network; Schmidt T. Weber JJ, et al. Among authors: sequeiros j. Acta Neuropathol. 2024 Aug 1;148(1):14. doi: 10.1007/s00401-024-02762-6. Acta Neuropathol. 2024. PMID: 39088078 Free PMC article.
257 results