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

Year Number of Results
1979 2
1982 1
1983 1
1984 1
1993 1
1998 1
2000 3
2001 1
2003 1
2005 1
2006 1
2007 1
2009 1
2010 2
2011 1
2012 3
2013 2
2014 2
2015 1
2016 1
2018 2
2019 2
2021 2
2022 1
2024 1

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33 results

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Page 1
The phenotype of SCN8A developmental and epileptic encephalopathy.
Gardella E, Marini C, Trivisano M, Fitzgerald MP, Alber M, Howell KB, Darra F, Siliquini S, Bölsterli BK, Masnada S, Pichiecchio A, Johannesen KM, Jepsen B, Fontana E, Anibaldi G, Russo S, Cogliati F, Montomoli M, Specchio N, Rubboli G, Veggiotti P, Beniczky S, Wolff M, Helbig I, Vigevano F, Scheffer IE, Guerrini R, Møller RS. Gardella E, et al. Among authors: cogliati f. Neurology. 2018 Sep 18;91(12):e1112-e1124. doi: 10.1212/WNL.0000000000006199. Epub 2018 Aug 31. Neurology. 2018. PMID: 30171078 Free article.
Analysis of the Phenotypes in the Rett Networked Database.
Frullanti E, Papa FT, Grillo E, Clarke A, Ben-Zeev B, Pineda M, Bahi-Buisson N, Bienvenu T, Armstrong J, Roche Martinez A, Mari F, Nissenkorn A, Lo Rizzo C, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Ravn K, Bosnjak VM, Hayek J, Khajuria R, Montomoli B, Cogliati F, Pintaudi M, Hadzsiev K, Craiu D, Voinova V, Djukic A, Villard L, Renieri A. Frullanti E, et al. Among authors: cogliati f. Int J Genomics. 2019 Mar 27;2019:6956934. doi: 10.1155/2019/6956934. eCollection 2019. Int J Genomics. 2019. PMID: 31049350 Free PMC article.
Think about it: FMR1 gene mosaicism.
Bonarrigo FA, Russo S, Vizziello P, Menni F, Cogliati F, Giorgini V, Monti F, Milani D. Bonarrigo FA, et al. Among authors: cogliati f. J Child Neurol. 2014 Sep;29(9):NP74-7. doi: 10.1177/0883073813503187. Epub 2013 Sep 23. J Child Neurol. 2014. PMID: 24065579
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.
Cogliati F, Straniero L, Rimoldi V, Masciadri M, Perego S, Rinaldi B, Milani D, Gentilini D, Larizza L, Asselta R, Russo S, Bedeschi MF. Cogliati F, et al. Am J Med Genet B Neuropsychiatr Genet. 2024 Feb 22:e32976. doi: 10.1002/ajmg.b.32976. Online ahead of print. Am J Med Genet B Neuropsychiatr Genet. 2024. PMID: 38385826
Blood oxidative stress and metallothionein expression in Rett syndrome: Probing for markers.
Pintaudi M, Veneselli E, Voci A, Vignoli A, Castiglione D, Calevo MG, Grasselli E, Ragazzoni M, Cogliati F, Calzari L, Scornavacca GF, Russo S, Vergani L. Pintaudi M, et al. Among authors: cogliati f. World J Biol Psychiatry. 2016 Apr;17(3):198-209. doi: 10.3109/15622975.2015.1077990. Epub 2015 Oct 15. World J Biol Psychiatry. 2016. PMID: 26469135
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.
Cogliati F, Giorgini V, Masciadri M, Bonati MT, Marchi M, Cracco I, Gentilini D, Peron A, Savini MN, Spaccini L, Scelsa B, Maitz S, Veneselli E, Prato G, Pintaudi M, Moroni I, Vignoli A, Larizza L, Russo S. Cogliati F, et al. Int J Mol Sci. 2019 Jul 24;20(15):3621. doi: 10.3390/ijms20153621. Int J Mol Sci. 2019. PMID: 31344879 Free PMC article.
33 results