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Page 1
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Borgia P, Baldassari S, Pedemonte N, Alkhunaizi E, D'Onofrio G, Tortora D, Calì E, Scudieri P, Balagura G, Musante I, Diana MC, Pedemonte M, Vari MS, Iacomino M, Riva A, Chimenz R, Mangano GD, Mohammadi MH, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Accogli A, Schiaffino MC, Maghnie M, Soler MA, Echiverri K, Abrams CK, Striano P, Fortuna S, Maroofian R, Houlden H, Zara F, Fiorillo C, Salpietro V. Borgia P, et al. Orphanet J Rare Dis. 2022 Jul 19;17(1):286. doi: 10.1186/s13023-022-02415-5. Orphanet J Rare Dis. 2022. PMID: 35854306 Free PMC article.
Current and promising therapeutic options for Dravet syndrome.
Riva A, D'Onofrio G, Amadori E, Tripodi D, Balagura G, Iurilli V, Vari MS, Verrotti A, Striano P. Riva A, et al. Expert Opin Pharmacother. 2022 Oct;23(15):1727-1736. doi: 10.1080/14656566.2022.2127089. Epub 2022 Sep 21. Expert Opin Pharmacother. 2022. PMID: 36124778 Review.
A real-life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy.
Riva A, Roberti R, D'Onofrio G, Vari MS, Amadori E, De Giorgis V, Cerminara C, Specchio N, Pietrafusa N, Tombini M, Assenza G, Cappanera S, Marini C, Rasmini P, Veggiotti P, Zara F, Russo E, Striano P. Riva A, et al. Epilepsia Open. 2023 Sep;8(3):1142-1150. doi: 10.1002/epi4.12717. Epub 2023 May 15. Epilepsia Open. 2023. PMID: 36840436 Free PMC article.
Expanding the phenotype associated with biallelic SLC20A2 variants.
D'Onofrio G, Scala M, Severino M, Roberti R, Romano F, De Marco P, Iacomino M, Baldassari S, Uva P, Pavanello M, Gustincich S, Striano P, Zara F, Capra V. D'Onofrio G, et al. Eur J Hum Genet. 2023 Jul;31(7):725-729. doi: 10.1038/s41431-023-01349-1. Epub 2023 Mar 28. Eur J Hum Genet. 2023. PMID: 36977836 Free PMC article. No abstract available.
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V. D'Onofrio G, et al. Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14. Hum Genet. 2023. PMID: 37183190 Free PMC article. Review.
579 results