Fabrizia Stregapede
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Explore the profile of Fabrizia Stregapede including associated specialties, affiliations and a list of published articles.
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17
Citations
162
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Recent Articles
1.
De Dominicis A, Sparascio F, Stregapede F, Terracciano A, Verrigni D, Lepri F, et al.
Am J Med Genet A
. 2025 Jan;
:e64010.
PMID: 39890443
MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as...
2.
De Dominicis A, Stregapede F, Colona V, Nicita F, Sartorelli J, Sparascio F, et al.
Seizure
. 2024 Aug;
121:141-146.
PMID: 39178560
Purpose: To report on a new phenotype in a patient carrying a novel, undescribed de novo variant in POLR3B, affected by generalized myoclonic epilepsy and neurodevelopmental disorder, without neuropathy. It...
3.
Trivisano M, De Dominicis A, Stregapede F, Quintavalle C, Micalizzi A, Cappelletti S, et al.
Epilepsy Behav
. 2023 Sep;
147:109436.
PMID: 37717460
CSNK2B encodes a regulatory subunit of casein kinase II, which is highly expressed in the brain. Heterozygous pathogenic variants in CSNK2B are associated with Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) (OMIM #618732),...
4.
Ghirardo S, Sabatini L, Onofri A, Chiarini Testa M, Paglietti M, Diodato D, et al.
Ital J Pediatr
. 2022 Sep;
48(1):167.
PMID: 36071486
Background: Breathing disturbances are often a primary clinical concern especially during wakefulness of the classic form of Rett syndrome, but data for atypical forms are lacking. Case Presentation: We report...
5.
Nicita F, Stregapede F, Deodato F, Pizzi S, Martinelli S, Pagliara D, et al.
Eur J Hum Genet
. 2022 May;
30(8):984-988.
PMID: 35581417
Krabbe disease (KD) is a rare lysosomal storage disorder caused by biallelic pathogenic variants in GALC. Most patients manifest the severe classic early-infantile form, while a small percentage of cases...
6.
Imbrici P, Conte E, Blunck R, Stregapede F, Liantonio A, Tosi M, et al.
Int J Mol Sci
. 2021 Sep;
22(18).
PMID: 34576077
Kv1.2 channels, encoded by the gene, are localized in the central and peripheral nervous system, where they regulate neuronal excitability. Recently, heterozygous mutations in have been associated with a spectrum...
7.
Nicita F, Aiello C, Vasco G, Valeriani M, Stregapede F, Sancesario A, et al.
Brain Sci
. 2021 Jan;
11(1).
PMID: 33450882
The gene, located on chromosome Xq22, encodes the proteolipid protein 1 and its isoform DM20. Mutations in cause a spectrum of white matter disorders of variable severity. Here we report...
8.
Di Lazzaro G, Graziola F, Sancesario A, Insalaco A, Moneta G, Castelli E, et al.
Parkinsonism Relat Disord
. 2020 Sep;
79:100-104.
PMID: 32911246
ADAR1 variants are associated to rare and heterogenous neurological conditions, including Aicardi-Goutières syndrome type 6, bilateral striatal necrosis, and dyschromatosis symmetrica hereditaria. Movement disorders (MDs) commonly occur in ADAR1-related diseases...
9.
Colasuonno F, Niceforo A, Marioli C, Fracassi A, Stregapede F, Massey K, et al.
Oxid Med Cell Longev
. 2020 Aug;
2020:6821247.
PMID: 32855765
Riboflavin transporter deficiency (RTD) is a childhood-onset neurodegenerative disorder characterized by progressive pontobulbar palsy, sensory and motor neuron degeneration, sensorineural hearing loss, and optic atrophy. As riboflavin (RF) is the...
10.
Heterozygous variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders
Nicita F, Ginevrino M, Travaglini L, DArrigo S, Zorzi G, Borgatti R, et al.
J Med Genet
. 2020 Aug;
58(7):475-483.
PMID: 32737135
Background: Dominant and recessive variants in the gene on chromosome 2q37.3 are associated with several phenotypes, although only three syndromes are currently listed in the OMIM classification: hereditary sensory and...