Francesca Cogliati
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Explore the profile of Francesca Cogliati including associated specialties, affiliations and a list of published articles.
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19
Citations
362
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Recent Articles
1.
Haviland I, Hector R, Swanson L, Verran A, Sherrill E, Frazier Z, et al.
Am J Med Genet A
. 2024 Aug;
197(1):e63843.
PMID: 39205479
Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy. Deletions affecting the 5' untranslated region (UTR)...
2.
Cogliati F, Straniero L, Rimoldi V, Masciadri M, Perego S, Rinaldi B, et al.
Am J Med Genet B Neuropsychiatr Genet
. 2024 Feb;
195(6):e32976.
PMID: 38385826
Loss-of-function CHD2 (chromodomain helicase DNA-binding protein 2) mutations are associated with a spectrum of neurodevelopmental disorders often including early-onset generalized seizures, photosensitivity, and epileptic encephalopathies. Patients show psychomotor delay/intellectual disability...
3.
Perego S, Alari V, Pietra G, Lamperti A, Vimercati A, Camporeale N, et al.
Int J Mol Sci
. 2022 Nov;
23(22).
PMID: 36430969
Rett syndrome caused by variants is characterized by a heterogenous clinical spectrum accounted for in 60% of cases by hot-spot variants. Focusing on the most frequent variants, we generated in...
4.
Epifanio R, Giorda R, Merlano M, Zanotta N, Romaniello R, Marelli S, et al.
Brain Sci
. 2022 Jan;
12(1).
PMID: 35053762
Pathogenic variants of the gene (MIM 182390) are associated with several epileptic syndromes ranging from benign familial neonatal-infantile seizures (BFNIS) to early infantile epileptic encephalopathy. The aim of this work...
5.
Cogliati F, Forzano F, Russo S
Front Neurol
. 2021 Aug;
12:711288.
PMID: 34367058
No abstract available.
6.
Cogliati F, Giorgini V, Masciadri M, Bonati M, Marchi M, Cracco I, et al.
Int J Mol Sci
. 2019 Jul;
20(15).
PMID: 31344879
Rett syndrome (RTT) is a neurodevelopmental disorder, affecting 1 in 10,000 girls. Intellectual disability, loss of speech and hand skills with stereotypies, seizures and ataxia are recurrent features. Stringent diagnostic...
7.
Frullanti E, Papa F, Grillo E, Clarke A, Ben-Zeev B, Pineda M, et al.
Int J Genomics
. 2019 May;
2019:6956934.
PMID: 31049350
Rett spectrum disorder is a progressive neurological disease and the most common genetic cause of intellectual disability in females. is the major causative gene. In addition, and mutations have been...
8.
Masciadri M, Ficcadenti A, Milani D, Cogliati F, Divizia M, Larizza L, et al.
Front Neurol
. 2018 Dec;
9:967.
PMID: 30538663
Splicing pathogenic variants account for a notable fraction of alterations underlying Cornelia de Lange syndrome but are likely underrepresented, due to overlooking of non-canonical intronic variants by traditional and contemporary...
9.
Gardella E, Marini C, Trivisano M, Fitzgerald M, Alber M, Howell K, et al.
Neurology
. 2018 Sep;
91(12):e1112-e1124.
PMID: 30171078
Objective: To delineate the electroclinical features of infantile developmental and epileptic encephalopathy (EIEE13, OMIM #614558). Methods: Twenty-two patients, aged 19 months to 22 years, underwent electroclinical assessment. Results: Sixteen of...
10.
Pintaudi M, Veneselli E, Voci A, Vignoli A, Castiglione D, Calevo M, et al.
World J Biol Psychiatry
. 2015 Oct;
17(3):198-209.
PMID: 26469135
Objectives: Oxidative stress seems to be involved in Rett syndrome (RTT). The aim of this study was to assess the antioxidant status in RTT children with MECP2 gene mutations with...