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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2011 3
2012 1
2013 1
2014 4
2015 2
2016 1
2017 1
2018 3
2019 1
2020 3
2022 1
2023 1
2024 1

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21 results

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Page 1
Parkinsonism and inborn errors of metabolism.
Garcia-Cazorla A, Duarte ST. Garcia-Cazorla A, et al. Among authors: duarte st. J Inherit Metab Dis. 2014 Jul;37(4):627-42. doi: 10.1007/s10545-014-9723-6. Epub 2014 Jun 7. J Inherit Metab Dis. 2014. PMID: 24906253 Review.
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.
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.
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA, Marey I, Charles P, Mendonça C, Nava C, Pfundt R, Sanchis-Juan A, van Bokhoven H, van Essen A, van Ravenswaaij-Arts C; NIHR BioResource; Care4Rare Canada Consortium; Boycott KM, Kernohan KD, Dyack S, Raymond FL. Ito Y, et al. Among authors: duarte st. Am J Hum Genet. 2018 Jul 5;103(1):144-153. doi: 10.1016/j.ajhg.2018.06.001. Epub 2018 Jun 28. Am J Hum Genet. 2018. PMID: 29961568 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.
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.
21 results