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Year Number of Results
2015 1
2016 4
2017 2
2018 3
2019 4
2020 2
2024 0

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Page 1
The epileptology of GNB5 encephalopathy.
Poke G, King C, Muir A, de Valles-Ibáñez G, Germano M, Moura de Souza CF, Fung J, Chung B, Fung CW, Mignot C, Ilea A, Keren B, Vermersch AI, Davis S, Stanley T, Moharir M, Kannu P, Shao Z, Malerba N, Merla G, Mefford HC, Scheffer IE, Sadleir LG. Poke G, et al. Among authors: malerba n. Epilepsia. 2019 Nov;60(11):e121-e127. doi: 10.1111/epi.16372. Epub 2019 Oct 20. Epilepsia. 2019. PMID: 31631344
TRIM50 regulates Beclin 1 proautophagic activity.
Fusco C, Mandriani B, Di Rienzo M, Micale L, Malerba N, Cocciadiferro D, Sjøttem E, Augello B, Squeo GM, Pellico MT, Jain A, Johansen T, Fimia GM, Merla G. Fusco C, et al. Among authors: malerba n. Biochim Biophys Acta Mol Cell Res. 2018 Jun;1865(6):908-919. doi: 10.1016/j.bbamcr.2018.03.011. Epub 2018 Mar 29. Biochim Biophys Acta Mol Cell Res. 2018. PMID: 29604308 Free article.
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D, Augello B, De Nittis P, Zhang J, Mandriani B, Malerba N, Squeo GM, Romano A, Piccinni B, Verri T, Micale L, Pasqualucci L, Merla G. Cocciadiferro D, et al. Among authors: malerba n. Hum Mol Genet. 2018 Nov 1;27(21):3651-3668. doi: 10.1093/hmg/ddy241. Hum Mol Genet. 2018. PMID: 30107592 Free PMC article.
A novel MED12 mutation: Evidence for a fourth phenotype.
Prontera P, Ottaviani V, Rogaia D, Isidori I, Mencarelli A, Malerba N, Cocciadiferro D, Rolph P, Stangoni G, Vulto-van Silfhout A, Merla G. Prontera P, et al. Among authors: malerba n. Am J Med Genet A. 2016 Sep;170(9):2377-82. doi: 10.1002/ajmg.a.37805. Epub 2016 Jun 17. Am J Med Genet A. 2016. PMID: 27312080 Review.
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.
Squeo GM, Augello B, Massa V, Milani D, Colombo EA, Mazza T, Castellana S, Piccione M, Maitz S, Petracca A, Prontera P, Accadia M, Della Monica M, Di Giacomo MC, Melis D, Selicorni A, Giglio S, Fischetto R, Di Fede E, Malerba N, Russo M, Castori M, Gervasini C, Merla G. Squeo GM, et al. Among authors: malerba n. J Med Genet. 2020 Nov;57(11):760-768. doi: 10.1136/jmedgenet-2019-106724. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170002
Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line.
Malerba N, Benzoni P, Squeo GM, Milanesi R, Giannetti F, Sadleir LG, Poke G, Augello B, Croce AI, Barbuti A, Merla G. Malerba N, et al. Stem Cell Res. 2019 Oct;40:101547. doi: 10.1016/j.scr.2019.101547. Epub 2019 Aug 22. Stem Cell Res. 2019. PMID: 31479876 Free article.
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Akdemir ZHC, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G. Lodder EM, et al. Among authors: malerba n. Am J Hum Genet. 2016 Sep 1;99(3):704-710. doi: 10.1016/j.ajhg.2016.06.025. Epub 2016 Aug 11. Am J Hum Genet. 2016. PMID: 27523599 Free PMC article.
15 results