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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.
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.
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.
Neural commitment of human pluripotent stem cells under defined conditions recapitulates neural development and generates patient-specific neural cells.
Fernandes TG, Duarte ST, Ghazvini M, Gaspar C, Santos DC, Porteira AR, Rodrigues GM, Haupt S, Rombo DM, Armstrong J, Sebastião AM, Gribnau J, Garcia-Cazorla À, Brüstle O, Henrique D, Cabral JM, Diogo MM. Fernandes TG, et al. Among authors: duarte st. Biotechnol J. 2015 Oct;10(10):1578-88. doi: 10.1002/biot.201400751. Epub 2015 Jun 30. Biotechnol J. 2015. PMID: 26123315
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