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Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Sanchis-Juan A, Megy K, Stephens J, Armirola Ricaurte C, Dewhurst E, Low K, French CE, Grozeva D, Stirrups K, Erwood M, McTague A, Penkett CJ, Shamardina O, Tuna S, Daugherty LC, Gleadall N, Duarte ST, Hedrera-Fernández A, Vogt J, Ambegaonkar G, Chitre M, Josifova D, Kurian MA, Parker A, Rankin J, Reid E, Wakeling E, Wassmer E, Woods CG; NIHR BioResource; Raymond FL, Carss KJ. Sanchis-Juan A, et al. Among authors: duarte st. Am J Hum Genet. 2023 Aug 3;110(8):1343-1355. doi: 10.1016/j.ajhg.2023.07.007. Am J Hum Genet. 2023. PMID: 37541188 Free PMC article.
Correction: Physiotherapists' barriers and facilitators to the implementation of a behaviour change-informed exercise intervention to promote the adoption of regular exercise practice in patients at risk of recurrence of low back pain: a qualitative study.
Moniz A, Duarte ST, Aguiar P, Caeiro C, Pires D, Fernandes R, Moço D, Marques MM, Sousa R, Canhão H, Branco J, Rodrigues AM, Cruz EB. Moniz A, et al. Among authors: duarte st. BMC Prim Care. 2024 Mar 22;25(1):94. doi: 10.1186/s12875-024-02333-4. BMC Prim Care. 2024. PMID: 38519912 Free PMC article. No abstract available.
Physiotherapists' barriers and facilitators to the implementation of a behaviour change-informed exercise intervention to promote the adoption of regular exercise practice in patients at risk of recurrence of low back pain: a qualitative study.
Moniz A, Duarte ST, Aguiar P, Caeiro C, Pires D, Fernandes R, Moço D, Marques MM, Sousa R, Canhão H, Branco J, Rodrigues AM, Cruz EB. Moniz A, et al. Among authors: duarte st. BMC Prim Care. 2024 Jan 26;25(1):39. doi: 10.1186/s12875-024-02274-y. BMC Prim Care. 2024. PMID: 38279123 Free PMC article.
Impairment of adenosinergic system in Rett syndrome: Novel therapeutic target to boost BDNF signalling.
Miranda-Lourenço C, Duarte ST, Palminha C, Gaspar C, Rodrigues TM, Magalhães-Cardoso T, Rei N, Colino-Oliveira M, Gomes R, Ferreira S, Rosa J, Xapelli S, Armstrong J, García-Cazorla À, Correia-de-Sá P, Sebastião AM, Diógenes MJ. Miranda-Lourenço C, et al. Among authors: duarte st. Neurobiol Dis. 2020 Nov;145:105043. doi: 10.1016/j.nbd.2020.105043. Epub 2020 Aug 14. Neurobiol Dis. 2020. PMID: 32798727 Free article.
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.
Sanchis-Juan A, Hasenahuer MA, Baker JA, McTague A, Barwick K, Kurian MA, Duarte ST; NIHR BioResource; Carss KJ, Thornton J, Raymond FL. Sanchis-Juan A, et al. Among authors: duarte st. Mol Genet Genomic Med. 2020 Jul;8(7):e1106. doi: 10.1002/mgg3.1106. Epub 2020 Apr 29. Mol Genet Genomic Med. 2020. PMID: 32347641 Free PMC article.
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.
Behne R, Teinert J, Wimmer M, D'Amore A, Davies AK, Scarrott JM, Eberhardt K, Brechmann B, Chen IP, Buttermore ED, Barrett L, Dwyer S, Chen T, Hirst J, Wiesener A, Segal D, Martinuzzi A, Duarte ST, Bennett JT, Bourinaris T, Houlden H, Roubertie A, Santorelli FM, Robinson M, Azzouz M, Lipton JO, Borner GHH, Sahin M, Ebrahimi-Fakhari D. Behne R, et al. Among authors: duarte st. Hum Mol Genet. 2020 Jan 15;29(2):320-334. doi: 10.1093/hmg/ddz310. Hum Mol Genet. 2020. PMID: 31915823 Free PMC article.
Leigh syndrome with atypical cerebellar lesions.
Veiga MGAD, Marecos C, Duarte ST, Vieira JP, Conceição C. Veiga MGAD, et al. Among authors: duarte st. eNeurologicalSci. 2019 Jun 28;16:100197. doi: 10.1016/j.ensci.2019.100197. eCollection 2019 Sep. eNeurologicalSci. 2019. PMID: 31334367 Free PMC article.
24 results