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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 1
2009 1
2010 1
2011 3
2013 1
2014 4
2015 3
2016 2
2017 2
2019 2
2020 3
2021 5
2022 8
2023 6
2024 3

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37 results

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Page 1
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Musto E, Liao VWY, Johannesen KM, Fenger CD, Lederer D, Kothur K, Fisk K, Bennetts B, Vrielynck P, Delaby D, Ceulemans B, Weckhuysen S, Sparber P, Bouman A, Ardern-Holmes S, Troedson C, Battaglia DI, Goel H, Feyma T, Bakhtiari S, Tjoa L, Boxill M, Demina N, Shchagina O, Dadali E, Kruer M, Cantalupo G, Contaldo I, Polster T, Isidor B, Bova SM, Fazeli W, Wouters L, Miranda MJ, Darra F, Pede E, Le Duc D, Jamra RA, Küry S, Proietti J, McSweeney N, Brokamp E, Andrews PI, Gouray Garcia M, Chebib M, Møller RS, Ahring PK, Gardella E. Musto E, et al. Among authors: contaldo i. Ann Neurol. 2023 Aug 22. doi: 10.1002/ana.26774. Online ahead of print. Ann Neurol. 2023. PMID: 37606373
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M, Scarano E, Graziano C, Zollino M. Amenta S, et al. Among authors: contaldo i. J Med Genet. 2022 Feb;59(2):189-195. doi: 10.1136/jmedgenet-2020-107225. Epub 2020 Dec 24. J Med Genet. 2022. PMID: 33361104
Cortical Visual Impairment in CDKL5 Deficiency Disorder.
Quintiliani M, Ricci D, Petrianni M, Leone S, Orazi L, Amore F, Gambardella ML, Contaldo I, Veredice C, Perulli M, Musto E, Mercuri EM, Battaglia DI. Quintiliani M, et al. Among authors: contaldo i. Front Neurol. 2022 Jan 26;12:805745. doi: 10.3389/fneur.2021.805745. eCollection 2021. Front Neurol. 2022. PMID: 35153983 Free PMC article.
Visual Function in Children with GNAO1-Related Encephalopathy.
Gambardella ML, Pede E, Orazi L, Leone S, Quintiliani M, Amorelli GM, Petrianni M, Galanti M, Amore F, Musto E, Perulli M, Contaldo I, Veredice C, Mercuri EM, Battaglia DI, Ricci D. Gambardella ML, et al. Among authors: contaldo i. Genes (Basel). 2023 Feb 22;14(3):544. doi: 10.3390/genes14030544. Genes (Basel). 2023. PMID: 36980817 Free PMC article.
Acneiform eruption induced by ethosuximide.
Ricci F, Paradisi A, Masini F, Contaldo I, Battaglia DI, Capizzi R, Guerriero C. Ricci F, et al. Among authors: contaldo i. Eur J Dermatol. 2014 Jan-Feb;24(1):98-9. doi: 10.1684/ejd.2013.2220. Eur J Dermatol. 2014. PMID: 24334200 No abstract available.
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.
Battaglia DI, Gambardella ML, Veltri S, Contaldo I, Chillemi G, Veredice C, Quintiliani M, Leoni C, Onesimo R, Verdolotti T, Radio FC, Martinelli D, Trivisano M, Specchio N, Dravet C, Tartaglia M, Zampino G. Battaglia DI, et al. Among authors: contaldo i. Genes (Basel). 2021 Aug 26;12(9):1316. doi: 10.3390/genes12091316. Genes (Basel). 2021. PMID: 34573299 Free PMC article.
Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.
Zollino M, Lattante S, Orteschi D, Frangella S, Doronzio PN, Contaldo I, Mercuri E, Marangi G. Zollino M, et al. Among authors: contaldo i. Front Neurosci. 2017 Oct 18;11:587. doi: 10.3389/fnins.2017.00587. eCollection 2017. Front Neurosci. 2017. PMID: 29093661 Free PMC article. Review.
Chiari 1 Malformation and Epilepsy in Children: A Missing Relationship.
Massimi L, Palombi D, Contaldo I, Veredice C, Chieffo DRP, Calandrelli R, Tamburrini G, Battaglia DI. Massimi L, et al. Among authors: contaldo i. J Clin Med. 2022 Oct 20;11(20):6182. doi: 10.3390/jcm11206182. J Clin Med. 2022. PMID: 36294502 Free PMC article.
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.
Trevisan V, Meroni A, Leoni C, Sirchia F, Politano D, Fiandrino G, Giorgio V, Rigante D, Limongelli D, Perri L, Sforza E, Leonardi F, Viscogliosi G, Contaldo I, Orteschi D, Proietti L, Zampino G, Onesimo R. Trevisan V, et al. Among authors: contaldo i. Genes (Basel). 2024 Mar 8;15(3):346. doi: 10.3390/genes15030346. Genes (Basel). 2024. PMID: 38540405 Free PMC article. Review.
37 results