Luca Soliani
Overview
Explore the profile of Luca Soliani including associated specialties, affiliations and a list of published articles.
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Articles
15
Citations
27
Followers
0
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Recent Articles
1.
Parra-Diaz P, Monteil A, Calame D, Hadouiri N, Soliani L, Spinelli E, et al.
Neurology
. 2025 Mar;
104(7):e213429.
PMID: 40048676
Background And Objectives: The NALCN channelosome regulates the resting membrane potential through sodium leak currents, influencing cellular excitability. Genetic variants in and , a subunit of the NALCN channelosome, cause...
2.
Contro G, Baroni M, Caraffi S, Napoli M, Artuso R, Giliberti A, et al.
Clin Genet
. 2025 Feb;
PMID: 39971730
In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in CDK13 and sharing major clinical features mainly consisting of congenital heart defects, intellectual disability...
3.
Ludlam W, Soliani L, Dominguez-Carral J, Cordelli D, Marchiani V, Gorria-Redondo N, et al.
J Neurol
. 2024 May;
271(7):3777-3781.
PMID: 38724739
No abstract available.
4.
Fetta A, Toni F, Pettenuzzo I, Ricci E, Rocca A, Gambi C, et al.
Orphanet J Rare Dis
. 2024 Mar;
19(1):107.
PMID: 38459574
Background: Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological involvement. Intellectual disability, developmental delay, behavioral problems, epilepsy, sleep disturbances, and brain...
5.
Dini G, Verrotti A, Gorello P, Soliani L, Cordelli D, Antona V, et al.
Front Pediatr
. 2023 Nov;
11:1292654.
PMID: 37915986
Background: -related disorder (OMIM #613735) is an autosomal dominant neurodevelopmental disorder characterized by a variable degree of cognitive impairment and non-specific dysmorphic features. To date, fewer than thirty patients affected...
6.
Rizzi S, Spagnoli C, Bellini M, Cesaroni C, Spezia E, Bergonzini P, et al.
Genes (Basel)
. 2023 Sep;
14(9).
PMID: 37761968
Aromatic L-amino acid decarboxylase deficiency (AADCd) is a rare recessive metabolic disorder caused by pathogenic homozygous or compound heterozygous variants in the dopa decarboxylase (DDC) gene. Adeno-associated viral vector-mediated gene...
7.
Soliani L, Alcala San Martin A, Balsells S, Hernando-Davalillo C, Ortigoza-Escobar J
Mov Disord Clin Pract
. 2023 Apr;
10(4):547-557.
PMID: 37070051
Background: Chromosome microarray analysis (CMA) can detect copy number variants (CNV) beyond the resolution of standard G-banded karyotyping. De novo or inherited microdeletions may cause autosomal dominant movement disorders. Objectives:...
8.
Bergonzini L, Pruccoli J, Pettenuzzo I, Pugliano R, Soliani L, Fetta A, et al.
Genes (Basel)
. 2023 Feb;
14(2).
PMID: 36833226
Status Epilepticus (SE) is a neurological emergency resulting from the failure of mechanisms of seizure termination or from the initiation of mechanisms that lead to prolonged seizures. The International League...
9.
Fetta A, Soliani L, Trevisan A, Pugliano R, Ricci E, Di Pisa V, et al.
Genes (Basel)
. 2022 Feb;
13(2).
PMID: 35205401
Background: Developmental delay and intellectual disability are two pivotal elements of the phenotype of Pallister-Killian Syndrome (PKS). Our study aims to define the cognitive, adaptive, behavioral, and sensory profile of...
10.
Soliani L, Martorell L, Yubero D, Verges C, Petit V, Ortigoza-Escobar J
Mov Disord Clin Pract
. 2022 Feb;
9(2):252-254.
PMID: 35146065
No abstract available.