Publications by authors named "P Dimartino"
Background: Alzheimer's disease (AD) is a progressive neurodegenerative disorder with both genetic and environmental factors contributing to its pathogenesis. While early-onset AD has well-established genetic determinants, the genetic basis for late-onset AD remains less clear. This study investigates a large Italian family with late-onset autosomal dominant AD, identifying a novel rare missense variant in GRIN2C gene associated with the disease, and evaluates the functional impact of this variant.
View Article and Find Full Text PDFObjective: We aimed to elucidate the pathogenic mechanisms underlying autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), and to understand the genotype/phenotype correlation of structural variants (SVs) in the LMNB1 locus.
Background: Since the discovery of 3D genome architectures and topologically associating domains (TADs), new pathomechanisms have been postulated for SVs, regardless of gene dosage changes. ADLD is a rare genetic disease associated with duplications (classical ADLD) or noncoding deletions (atypical ADLD) in the LMNB1 locus.
Article Synopsis
- The study investigates the use of genomic DNA methylation analysis, or episignature profiling, in diagnosing neurodevelopmental disorders (NDDs) by evaluating two cohorts of patients: one with known pathogenic variants and another with uncertain mutations.
- In the validation group of 59 patients, 90% exhibited expected episignatures, although some variants displayed overlapping profiles due to similar clinical symptoms.
- In the test cohort of 38 patients, five cases identified novel pathogenic variants and confirmed diagnoses for conditions such as Cornelia de Lange syndrome, highlighting the potential of episignature analysis to tackle complex genetic diagnosis challenges.
Objective: This study investigates the prevalence of pathogenic variants in the mechanistic target of rapamycin (mTOR) pathway in surgical specimens of malformations of cortical development (MCDs) and cases with negative histology. The study also aims to evaluate the predictive value of genotype-histotype findings on the surgical outcome.
Methods: The study included patients with drug-resistant focal epilepsy who underwent epilepsy surgery.
Background The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a novel coronavirus causing acute respiratory distress with multisystem complications, including cardiac complications. Acute myocarditis is one possible complication of coronavirus disease 2019 (COVID-19). Previous studies revealed that mortality from COVID-19 was higher in patients with cardiac complications.
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