Flavia Privitera
Overview
Explore the profile of Flavia Privitera including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
9
Citations
17
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Privitera F, Meossi C, Santorelli F, Bartolini E
Epilepsia
. 2025 Mar;
PMID: 40067214
No abstract available.
2.
Baggiani M, Damiani D, Privitera F, Della Vecchia S, Tessa A, Santorelli F
Int J Mol Sci
. 2024 Oct;
25(19).
PMID: 39408944
Hereditary spastic paraplegias are rare genetic disorders characterized by corticospinal tract impairment. Spastic paraplegia 83 (SPG83) is associated with biallelic mutations in the gene, leading to varied severities from neonatal...
3.
Jensen M, Smolen C, Tyryshkina A, Pizzo L, Banerjee D, Oetjens M, et al.
medRxiv
. 2024 Sep;
PMID: 39252907
Variable expressivity of disease-associated variants implies a role for secondary variants that modify clinical features. We assessed the effects of modifier variants towards clinical outcomes of 2,252 individuals with primary...
4.
Baggiani M, Santorelli F, Mero S, Privitera F, Damiani D, Tessa A
Stem Cell Res
. 2024 Jun;
79:103472.
PMID: 38889632
Hereditary spastic paraplegias (HSPs) a group of rare, clinically, and genetically heterogeneous disorders characterized by progressive degeneration of the corticospinal tract. Among these HSPs, SPG31 is due to autosomal dominant...
5.
Naef V, Lieto M, Satolli S, De Micco R, Troisi M, Pasquariello R, et al.
Ann Clin Transl Neurol
. 2024 Jun;
11(7):1879-1886.
PMID: 38837640
Objective: Biallelic mutations in PRDX3 have been linked to autosomal recessive spinocerebellar ataxia type 32. In this study, which aims to contribute to the growing body of knowledge on this...
6.
Privitera F, Pagano S, Meossi C, Battini R, Bartolini E, Montanaro D, et al.
Genes (Basel)
. 2024 May;
15(5).
PMID: 38790177
(MIM #602075) is a relatively new gene reported only in recent years in association with neurodevelopmental disorders characterized by variable facial dysmorphisms, global developmental delay, poor or absent speech, altered...
7.
Privitera F, Piccini F, Recalcati M, Presi S, Mazzola S, Carrera P
Genes (Basel)
. 2023 Jul;
14(7).
PMID: 37510409
The 5q deletion syndrome is a relatively rare condition caused by the monoallelic interstitial deletion of the long arm of chromosome 5. Patients described in literature usually present variable dysmorphic...
8.
Privitera F, Trusso M, Valentino F, Doddato G, Fallerini C, Brunelli G, et al.
Braz J Psychiatry
. 2022 Jul;
45(1):11-19.
PMID: 35881528
Objective: Bipolar disorder is a heritable chronic mental disorder that causes psychosocial impairment through depressive/manic episodes. Familial transmission of bipolar disorder does not follow simple Mendelian patterns of inheritance. The...
9.
Privitera F, Calonaci A, Doddato G, Papa F, Baldassarri M, Pinto A, et al.
Genes (Basel)
. 2021 Sep;
12(9).
PMID: 34573300
Retinoblastoma (RB) is an ocular tumor of the pediatric age caused by biallelic inactivation of the gene (13q14). About 10% of cases are due to gross-sized molecular deletions. The deletions...
10.
Lopergolo D, Privitera F, Castello G, Lo Rizzo C, Mencarelli M, Pinto A, et al.
Clin Genet
. 2020 Dec;
99(3):462-474.
PMID: 33368194
IQSEC2 mutations are associated with IQSEC2-related intellectual disability (ID). Phenotypic spectrum has been better defined in the last few years by the increasing number of reported cases although the genotype-phenotype...