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Suggested authors matching "AUTH:Trunzo R" with an ORCID

Roberta Trunzo
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6
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18
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The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Elkhateeb N, Issa MY, Elbendary HM, Elnaggar W, Ramadan A, Rafat K, Kamel M, Abdel-Ghafar SF, Amer F, Hassaan HM, Trunzo R, Pereira C, Abdel-Hamid MS, D'Arco F, Bauer P, Bertoli-Avella AM, Girgis M, Gleeson JG, Zaki MS, Selim L
Clin Genet, 105(5):510-522, 14 Jan 2024
Cited by: 1 article | PMID: 38221827
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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, Yousefi S, Capo I, van den Herik EM, van Slegtenhorst M, van Minkelen R, Geeven G, Mulder MT, Ruijter GJG, Lütjohann D, [...] Barakat TS
Acta Neuropathol, 146(2):353-368, 29 Apr 2023
Cited by: 6 articles | PMID: 37119330 | PMCID: PMC10328903
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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Corrigendum to: Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child.
Jasinge E, Fernando M, Ruwan Indika NL, Trunzo R, Schröder S, Vidanapathirana DM, Jones PM, Jayasena S, Gunarathne AV, Ratnayake P
Lab Med, 53(3):e62, 01 May 2022
Cited by: 0 articles | PMID: 34730174
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Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child.
Jasinge E, Fernando M, Indika NR, Trunzo R, Schröder S, Vidanapathirana DM, Jones PM, Jayasena S, Gunarathne AV, Ratnayake P
Lab Med, 53(3):e48-e50, 01 May 2022
Cited by: 0 articles | PMID: 34643235
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Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.
Alawbathani S, Westenberger A, Ordonez-Herrera N, Al-Hilali M, Al Hebby H, Alabbas F, Alhashem AM, Elyamany G, Megarbane A, Kose M, Alhashmi N, Al Sukaiti N, Al-Raqad M, Al-Tawalbeh S, Abu Adas Blanco O, Alkhattabi F, Sng D, Al-Ali R, Khan S, [...] Bertoli-Avella AM
Clin Genet, 101(2):247-254, 06 Nov 2021
Cited by: 8 articles | PMID: 34708404
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Novel AKAP9 mutation and long QT syndrome in a patient with torsades des pointes.
Bottigliero D, Monaco I, Santacroce R, Casavecchia G, Correale M, Guastafierro F, Leccese A, Cordisco G, Ieva R, Trunzo R, Di Biase M, Margaglione M, Brunetti ND
J Interv Card Electrophysiol, 56(2):171-172, 15 Aug 2019
Cited by: 6 articles | PMID: 31418098
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In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.
Trunzo R, Santacroce R, Shen N, Jung-Klawitter S, Leccese A, De Girolamo G, Margaglione M, Blau N
Gene, 594(1):138-143, 13 Sep 2016
Cited by: 6 articles | PMID: 27620137
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The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype.
Santacroce R, Trunzo R, Leccese A, Pansini A, Gentile M, Margaglione M
Syst Biol Reprod Med, 61(6):398-402, 13 Aug 2015
Cited by: 0 articles | PMID: 26270802
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Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness.
Trunzo R, Santacroce R, D'Andrea G, Longo V, De Girolamo G, Dimatteo C, Leccese A, Bafunno V, Lillo V, Papadia F, Margaglione M
Clin Chim Acta, 450:51-55, 23 Jul 2015
Cited by: 4 articles | PMID: 26210745
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Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients.
Santacroce R, Leccese A, Trunzo R, Lassandro G, Giordano P, Ettorre C, Antoncecchi S, Cantori I, Dragani A, Belvini D, Salviato R, Margaglione M
Thromb Res, 135(5):1031-1034, 17 Jan 2015
Cited by: 1 article | PMID: 25628142
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Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.
Leccese A, Longo V, Dimatteo C, De Girolamo G, Trunzo R, D'Andrea G, Bafunno V, Margaglione M, Santacroce R
Clin Chim Acta, 437:48-51, 12 Jul 2014
Cited by: 3 articles | PMID: 25025300
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Mutation analysis in hyperphenylalaninemia patients from South Italy.
Trunzo R, Santacroce R, D'Andrea G, Longo V, De Girolamo G, Dimatteo C, Leccese A, Lillo V, Papadia F, Margaglione M
Clin Biochem, 46(18):1896-1898, 18 Jun 2013
Cited by: 9 articles | PMID: 23792259
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Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees.
Trunzo R, Santacroce R, D'Andrea G, Longo V, De Girolamo G, Dimatteo C, Leccese A, Lillo V, Papadia F, Margaglione M
Clin Biochem, 47(3):233-235, 01 Dec 2013
Cited by: 1 article | PMID: 24296287
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[TRPC6 mutations in children with steroid-resistant nephrotic syndrome].
Gigante M, Caridi G, Montemurno E, Trunzo R, Schirinzi A, Aucella F, Messina G, Massella L, Ranieri E, Ghiggeri GM, Gesualdo L
G Ital Nefrol, 28(4):350-352, 01 Jul 2011
Cited by: 1 article | PMID: 21809298
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Optical system design and integration of the mercury laser altimeter.
Ramos-Lzquierdo L, Scott VS, Schmidt S, Britt J, Mamakos W, Trunzo R, Cavanaugh J, Miller R
Appl Opt, 44(9):1748-1760, 01 Mar 2005
Cited by: 3 articles | PMID: 15813279
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