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Chiara Verpelli

Explore the profile of Chiara Verpelli including associated specialties, affiliations and a list of published articles. Areas
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Articles 56
Citations 1983
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Recent Articles
1.
Giona F, Beretta S, Zippo A, Stefanoni A, Tomasoni Z, Vicidomini C, et al.
Mol Psychiatry . 2025 Mar; PMID: 40089604
Mutations or deletions in the SHANK3 gene have been identified in up to 1% of autism spectrum disorder cases and are considered the primary cause of neuropsychiatric symptoms in Phelan...
2.
Vinci E, Beretta S, Colombo V, Zippo A, Catanese A, Wiegreffe C, et al.
J Neurochem . 2025 Jan; 169(1):e16297. PMID: 39801227
Mutations in the Transcription Factor 20 (TCF20) have been identified in patients with autism spectrum disorders (ASDs), intellectual disabilities (IDs), and other neurological issues. Recently, a new syndrome called TCF20-associated...
3.
Pagano J, Landi S, Stefanoni A, Nardi G, Albanesi M, Bauer H, et al.
Mol Autism . 2023 Aug; 14(1):28. PMID: 37528484
Background: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by developmental delay, intellectual disability, and autistic-like behaviors and is primarily caused by haploinsufficiency of SHANK3 gene. Currently, there is no...
4.
Heuvel F, Alami N, Aousji O, Pogatzki-Zahn E, Zahn P, Wilhelm H, et al.
Mol Autism . 2023 Jun; 14(1):21. PMID: 37316943
Background: Autism Spectrum Disorders (ASD) patients experience disturbed nociception in the form of either hyposensitivity to pain or allodynia. A substantial amount of processing of somatosensory and nociceptive stimulus takes...
5.
Schon M, Lapunzina P, Nevado J, Mattina T, Gunnarsson C, Hadzsiev K, et al.
Eur J Med Genet . 2023 Apr; 66(7):104754. PMID: 37003575
Phelan-McDermid syndrome (PMS) is an infrequently described syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other comorbidities. As part of the development of European medical...
6.
Garrido D, Beretta S, Grabrucker S, Bauer H, Bayer D, Sala C, et al.
Mol Psychiatry . 2022 Sep; 27(12):4994-5006. PMID: 36100669
Members of the Shank protein family are master scaffolds of the postsynaptic architecture and mutations within the SHANK genes are causally associated with autism spectrum disorders (ASDs). We generated a...
7.
Musardo S, Therin S, Pelucchi S, DAndrea L, Stringhi R, Ribeiro A, et al.
Mol Ther . 2022 Apr; 30(7):2474-2490. PMID: 35390543
The development of new therapeutic avenues that target the early stages of Alzheimer's disease (AD) is urgently necessary. A disintegrin and metalloproteinase domain 10 (ADAM10) is a sheddase that is...
8.
Phelan K, Boccuto L, Powell C, Boeckers T, van Ravenswaaij-Arts C, Rogers R, et al.
Orphanet J Rare Dis . 2022 Jan; 17(1):27. PMID: 35093143
Phelan-McDermid syndrome (PMS) was initially called the 22q13 deletion syndrome based on its etiology as a deletion of the distal long arm of chromosome 22. These included terminal and interstitial...
9.
Beretta S, Gritti L, Ponzoni L, Scalmani P, Mantegazza M, Sala M, et al.
Mol Autism . 2022 Jan; 13(1):1. PMID: 34980259
Background: Dravet Syndrome is a severe childhood pharmaco-resistant epileptic disorder mainly caused by mutations in the SCN1A gene, which encodes for the α1 subunit of the type I voltage-gated sodium...
10.
Tapella L, Dematteis G, Ruffinatti F, Ponzoni L, Fiordaliso F, Corbelli A, et al.
Cell Calcium . 2021 Oct; 100:102480. PMID: 34607180
Calcineurin (CaN), acting downstream of intracellular calcium signals, orchestrates cellular remodeling in many cellular types. In astrocytes, major homeostatic players in the central nervous system (CNS), CaN is involved in...