Massimo Carella
Overview
Explore the profile of Massimo Carella including associated specialties, affiliations and a list of published articles.
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Articles
205
Citations
3142
Followers
0
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Recent Articles
1.
Mei D, Balestrini S, Parrini E, Gambardella A, Annesi G, De Giorgis V, et al.
J Med Genet
. 2024 Nov;
62(1):25-31.
PMID: 39613335
Background: We aimed to estimate real-world evidence of the prevalence rate of genetic developmental and epileptic encephalopathies (DEEs) in the Italian population over a 11-year period. Methods: Fifteen paediatric and...
2.
Dinoi G, Conte E, Palumbo O, Benvenuto M, Coppola M, Palumbo P, et al.
Biomedicines
. 2024 Aug;
12(8).
PMID: 39200163
Loss-, gain-of-function and mixed variants in (Nav1.1 voltage-gated sodium channel) have been associated with a spectrum of neurologic disorders with different severity and drug-responsiveness. Most variants are heterozygous changes occurring...
3.
Di Stolfo G, Mastroianno S, Soldato N, Massaro R, De Luca G, Seripa D, et al.
J Clin Med
. 2024 Jun;
13(11).
PMID: 38892888
: TOMM40 single nucleotide polymorphism (SNP) rs2075650 consists of allelic variation c.275-31A > G and it has been linked to Alzheimer disease, apolipoprotein and cholesterol levels and other risk factors....
4.
Benvenuto M, Cesarini S, Severi G, Ambrosini E, Russo A, Seri M, et al.
Genes (Basel)
. 2024 Apr;
15(4).
PMID: 38674365
O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant disorder caused by mutations in the gene. The clinical phonotype of the affected individuals is typically characterized by global developmental delay, autism, epilepsy,...
5.
Esposito M, Minnai F, Copetti M, Miscio G, Perna R, Piepoli A, et al.
Commun Med (Lond)
. 2024 Apr;
4(1):63.
PMID: 38575714
Background: Since the beginning of the anti-COVID-19 vaccination campaign, it has become evident that vaccinated subjects exhibit considerable inter-individual variability in the response to the vaccine that could be partly...
6.
Imbrici P, dOrsi G, Carella M, Nicolotti O, De Luca A, Altomare C, et al.
Pharmacol Res
. 2023 Nov;
199:107012.
PMID: 38036198
No abstract available.
7.
Leone M, Gelati M, Profico D, Gobbi C, Pravata E, Copetti M, et al.
Cell Stem Cell
. 2023 Nov;
30(12):1597-1609.e8.
PMID: 38016468
We report the analysis of 1 year of data from the first cohort of 15 patients enrolled in an open-label, first-in-human, dose-escalation phase I study (ClinicalTrials.gov: NCT03282760, EudraCT2015-004855-37) to determine...
8.
Benvenuto M, Palumbo P, Di Muro E, Perrotta C, Mazza T, Mandara G, et al.
Genes (Basel)
. 2023 Oct;
14(10).
PMID: 37895307
The FOXP subfamily includes four different transcription factors: FOXP1, FOXP2, FOXP3, and FOXP4, all with important roles in regulating gene expression from early development through adulthood. Haploinsufficiency of , due...
9.
Pignata L, Cecere F, Acquaviva F, DAngelo E, Cioffi D, Pellino V, et al.
Front Cell Dev Biol
. 2023 Aug;
11:1237629.
PMID: 37635873
Imprinting disorders are congenital diseases caused by dysregulation of genomic imprinting, affecting growth, neurocognitive development, metabolism and cancer predisposition. Overlapping clinical features are often observed among this group of diseases....
10.
Bianco S, Parca L, Petrizzelli F, Biagini T, Giovannetti A, Liorni N, et al.
Nat Commun
. 2023 Aug;
14(1):5058.
PMID: 37598215
Mitochondrial dysfunction has pleiotropic effects and is frequently caused by mitochondrial DNA mutations. However, factors such as significant variability in clinical manifestations make interpreting the pathogenicity of variants in the...