Filippo M Santorelli
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Explore the profile of Filippo M Santorelli including associated specialties, affiliations and a list of published articles.
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273
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3709
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Recent Articles
1.
Pagano S, Lopergolo D, De Falco A, Meossi C, Satolli S, Pasquariello R, et al.
Genes (Basel)
. 2025 Feb;
16(2).
PMID: 40004556
: Schuurs-Hoeijmakers syndrome (SHMS), also known as PACS1 neurodevelopmental disorder, is a rare condition characterized by intellectual disability, distinctive craniofacial abnormalities, and congenital malformations. SHMS has already been associated with...
2.
De Riso G, Naef V, Damiani D, Doccini S, Santorelli F, Galatolo D
Cerebellum
. 2025 Jan;
24(2):36.
PMID: 39853590
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare inherited condition described worldwide and characterized by a wide spectrum of heterogeneity in terms of genotype and phenotype. How sacsin...
3.
Licitra R, Della Vecchia S, Santucci L, Vivarelli R, Bernardi S, Santorelli F, et al.
Cells
. 2025 Jan;
14(1.
PMID: 39791756
CLN8 and other neuronal ceroid lipofuscinoses (NCLs) often lead to cognitive decline, emotional disturbances, and social deficits, worsening with disease progression. Disrupted lysosomal pH, impaired autophagy, and defective dendritic arborization...
4.
Satolli S, Rossi S, Vegezzi E, Pellerin D, Manca M, Barghigiani M, et al.
J Neurol
. 2024 Nov;
271(12):7650-7651.
PMID: 39499281
No abstract available.
5.
Tunca C, Islek Camadan E, Smolina N, Palvadeau R, Oztop Cakmak O, Vural A, et al.
Mov Disord
. 2024 Sep;
39(12):2291-2297.
PMID: 39314081
Background: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a common recessive ataxia that is still underdiagnosed worldwide. An easily accessible diagnostic biomarker might help to diagnostically confirm patients presenting...
6.
Camussi D, Naef V, Brogi L, Della Vecchia S, Marchese M, Nicoletti F, et al.
Cells
. 2024 Aug;
13(16.
PMID: 39195239
Autism spectrum disorder (ASD) is a multifactorial neurodevelopmental condition with several identified risk factors, both genetic and non-genetic. Among these, prenatal exposure to valproic acid (VPA) has been extensively associated...
7.
Bortolani S, Savarese M, Vattemi G, Bonanno S, Falzone Y, Pugliese A, et al.
Neurology
. 2024 Aug;
103(4):e209697.
PMID: 39102614
Background And Objectives: The diagnostic process for myofibrillar myopathies (MFM) and distal myopathies (DM) is particularly complex because of the large number of causative genes, the existence of still molecularly...
8.
Papoff F, Astrea G, Mero S, Chicca L, Satolli S, Pasquariello R, et al.
Neuropediatrics
. 2024 Jul;
55(5):341-346.
PMID: 39059408
Hereditary spastic paraplegias (HSPs) are a genetically heterogeneous group of neurodegenerative disorders clinically characterized by progressive lower limb spasticity with pyramidal weakness. Around a dozen potential molecular mechanisms are recognized....
9.
Satolli S, Rossi S, Vegezzi E, Pellerin D, Manca M, Barghigiani M, et al.
J Neurol
. 2024 Jun;
271(8):5478-5488.
PMID: 38886208
Background: Autosomal-dominant spinocerebellar ataxia (ADCA) due to intronic GAA repeat expansion in FGF14 (SCA27B) is a recent, relatively common form of late-onset ataxia. Objective: Here, we aimed to: (1) investigate...
10.
Fortier M, Cauhape M, Buono S, Becker J, Menuet A, Branchu J, et al.
Neurobiol Dis
. 2024 Jun;
199:106564.
PMID: 38876323
Biallelic variants in the SPG11 gene account for the most common form of autosomal recessive hereditary spastic paraplegia characterized by motor and cognitive impairment, with currently no therapeutic option. We...