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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.
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.
Atypical phenotype in two patients with LAMA2 mutations.
Marques J, Duarte ST, Costa S, Jacinto S, Oliveira J, Oliveira ME, Santos R, Bronze-da-Rocha E, Silvestre AR, Calado E, Evangelista T. Marques J, et al. Among authors: duarte st. Neuromuscul Disord. 2014 May;24(5):419-24. doi: 10.1016/j.nmd.2014.01.004. Epub 2014 Jan 25. Neuromuscul Disord. 2014. PMID: 24534542 Free article.
Modeling Rett Syndrome With Human Patient-Specific Forebrain Organoids.
Gomes AR, Fernandes TG, Vaz SH, Silva TP, Bekman EP, Xapelli S, Duarte S, Ghazvini M, Gribnau J, Muotri AR, Trujillo CA, Sebastião AM, Cabral JMS, Diogo MM. Gomes AR, et al. Front Cell Dev Biol. 2020 Dec 10;8:610427. doi: 10.3389/fcell.2020.610427. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 33363173 Free PMC article.
Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency.
Ortez C, Duarte ST, Ormazábal A, Serrano M, Pérez A, Pons R, Pineda M, Yapici Z, Fernández-Álvarez E, Domingo-Jiménez R, De Castro P, Artuch R, García-Cazorla A. Ortez C, et al. Among authors: duarte st. Mol Genet Metab. 2015 Jan;114(1):34-40. doi: 10.1016/j.ymgme.2014.10.014. Epub 2014 Oct 31. Mol Genet Metab. 2015. PMID: 25468651 Free 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.
49 results