Filippo Maria Santorelli
Overview
Explore the profile of Filippo Maria Santorelli including associated specialties, affiliations and a list of published articles.
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Articles
185
Citations
2040
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Recent Articles
1.
Privitera F, Meossi C, Santorelli F, Bartolini E
Epilepsia
. 2025 Mar;
PMID: 40067214
No abstract available.
2.
Meossi C, De Falco A, Marchi M, Rubegni A, Pagano S, Trovato R, et al.
Clin Genet
. 2025 Mar;
PMID: 40045913
We present the case of a child who developed focal seizures, emotional and behavioral dysregulation, and sleep abnormalities at age 5. Trio whole genome sequencing identified biallelic mutations in the...
3.
Satolli S, Rossi S, Boccuni L, Martinuzzi A, Musumeci O, Rizzo G, et al.
Neurol Sci
. 2025 Feb;
PMID: 39985651
No abstract available.
4.
Petillo R, De Maggio I, Piscopo C, Chetta M, Tarsitano M, Chiriatti L, et al.
Clin Genet
. 2025 Feb;
PMID: 39891531
Adult patients with undiagnosed genetic disorders suffer most from diagnostic delay and seldom appear in cohort studies investigating the diagnostic yield in medical genetic clinical practice. Here we present the...
5.
Camussi D, Marchese M, Nicoletti F, Santorelli F, Ogi A
Cells
. 2025 Jan;
14(2).
PMID: 39851536
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social skills and the presence of repetitive and restricted behaviors and interests. The social behavior of the zebrafish...
6.
Naef V, Damiani D, Licitra R, Marchese M, Della Vecchia S, Baggiani M, et al.
Neurobiol Dis
. 2025 Jan;
205:106793.
PMID: 39778749
Biallelic mutations in the SACS gene, encoding sacsin, cause early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disease also characterized by unique and poorly understood retinal abnormalities. While...
7.
Della Vecchia S, Gammaldi N, Ricca I, Mero S, Doccini S, Ardissone A, et al.
J Neurol
. 2025 Jan;
272(1):94.
PMID: 39775944
The neuronal ceroid lipofuscinoses (NCLs) are incurable pediatric neurodegenerative diseases characterized by accumulation of lysosomal material and dysregulation of autophagy. Given the promising results of treatment with trehalose, an autophagy...
8.
Petrini S, Bagnato G, Piccione M, DOria V, Apollonio V, Cappa M, et al.
Int J Mol Sci
. 2025 Jan;
25(24.
PMID: 39769130
Laminopathies represent a wide range of genetic disorders caused by mutations in gene-encoding proteins of the nuclear lamina. Altered nuclear mechanics have been associated with laminopathies, given the key role...
9.
Della Vecchia S, Imbrici P, Liantonio A, Naef V, Damiani D, Licitra R, et al.
Biomed Pharmacother
. 2025 Jan;
183:117800.
PMID: 39753095
Lafora disease (LD) is an ultra-rare and still incurable neurodegenerative condition. Although several therapeutic strategies are being explored, including gene therapy, there are currently no treatments that can alleviate the...
10.
De Falco A, Minale E, Meossi C, Pagano S, Trovato R, Agolini E, et al.
Am J Med Genet A
. 2024 Dec;
197(4):e63959.
PMID: 39629746
Turner-type X-linked syndromic intellectual developmental disorder (MRXST) is a neurodevelopmental disorder associated with variants in the HUWE1 gene on chromosome Xp11. The condition is characterized by variable phenotypes, including global...