Leonardo Salviati
Overview
Explore the profile of Leonardo Salviati including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
185
Citations
6296
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
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...
2.
Rigoni G, Calvo E, Glytsou C, Carro-Alvarellos M, Noguchi M, Semenzato M, et al.
Cell Metab
. 2025 Feb;
PMID: 39999845
Mitochondrial proteins assemble dynamically in high molecular weight complexes essential for their functions. We generated and validated two searchable compendia of these mitochondrial complexes. Following identification by mass spectrometry of...
3.
Emmi A, Bonato G, Tushevski A, Bertolin C, Cavallieri F, Porzionato A, et al.
Ann Clin Transl Neurol
. 2025 Feb;
PMID: 39935191
Objective: Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and...
4.
Puma A, Tammam G, Ezaru A, Slioui A, Torchia E, Tasca G, et al.
Eur J Hum Genet
. 2025 Jan;
PMID: 39775061
Facioscapulohumeral dystrophy type 1 (FSHD1) displays prominent intra- and interfamilial variability, which complicates the phenotype-genotype correlation. In this retrospective study, we investigated FSHD1 patients classified as category D according to...
5.
Gragnaniello V, Cazzorla C, Gueraldi D, Loro C, Porcu E, Salviati L, et al.
Int J Neonatal Screen
. 2024 Dec;
10(4).
PMID: 39728399
Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder with a broad clinical spectrum. Early diagnosis and initiation of treatment are crucial for improving outcomes, yet the disease often...
6.
Sorrentino U, Baschiera E, Desbats M, Zuffardi O, Salviati L, Cassina M
Am J Med Genet B Neuropsychiatr Genet
. 2024 Oct;
198(2):e33013.
PMID: 39417375
Polynucleotide kinase phosphatase (PNKP), encoded by the PNKP gene, is a DNA processing enzyme involved in double-strand break and single-strand break repair pathways, which are essential for genome stability and...
7.
Carpentieri G, Cecchetti S, Bocchinfuso G, Radio F, Leoni C, Onesimo R, et al.
HGG Adv
. 2024 Aug;
5(4):100349.
PMID: 39210597
The vacuolar H-ATPase (V-ATPase) is a functionally conserved multimeric complex localized at the membranes of many organelles where its proton-pumping action is required for proper lumen acidification. The V-ATPase complex...
8.
Mastromoro G, Santoro C, Motta M, Sorrentino U, Daniele P, Peduto C, et al.
Genet Med
. 2024 Aug;
26(11):101241.
PMID: 39140257
Purpose: Pathogenic LZTR1 variants cause schwannomatosis and dominant/recessive Noonan syndrome (NS). We aim to establish an association between heterozygous loss-of-function LZTR1 alleles and isolated multiple café-au-lait macules (CaLMs). Methods: A...
9.
Di Iorio E, Adamo G, Sorrentino U, De Nadai K, Barbaro V, Mura M, et al.
Sci Rep
. 2024 Aug;
14(1):18580.
PMID: 39127808
Sequence variants in Eyes Shut Homolog (EYS) gene are one of the most frequent causes of autosomal recessive retinitis pigmentosa (RP). Herein, we describe an Italian RP family characterized by...
10.
Bonato G, Antonini A, Pistonesi F, Campagnolo M, Guerra A, Biundo R, et al.
Neurol Sci
. 2024 Jul;
46(1):165-174.
PMID: 39034353
Background: Parkinson's disease (PD) is a progressive neurodegenerative disorder with a multifactorial pathogenesis. Several genetic variants increase the risk of PD and about 5-10% of cases are monogenic. This study...