A5062480282- Aquaculture Nutrition and Growth
- Meat and Animal Product Quality
- Neurological diseases and metabolism
- Hereditary Neurological Disorders
- Identification and Quantification in Food
- Amyotrophic Lateral Sclerosis Research
- Genetic Neurodegenerative Diseases
- Prion Diseases and Protein Misfolding
- Animal Nutrition and Physiology
- Aquaculture disease management and microbiota
- Fatty Acid Research and Health
- Marine Bivalve and Aquaculture Studies
- Plant Physiology and Cultivation Studies
- Mercury impact and mitigation studies
- Metabolomics and Mass Spectrometry Studies
- Pharmaceutical and Antibiotic Environmental Impacts
- Mitochondrial Function and Pathology
- Parkinson's Disease Mechanisms and Treatments
- Environmental Toxicology and Ecotoxicology
- Neurofibromatosis and Schwannoma Cases
- Cerebrovascular and genetic disorders
- Mechanisms of cancer metastasis
- Selenium in Biological Systems
- Isotope Analysis in Ecology
- Dye analysis and toxicity
University of Verona
2011-2021
Azienda Ospedaliera Universitaria Integrata Verona
2020
University of Bologna
2000-2018
VIB-UAntwerp Center for Molecular Neurology
2016
Azienda-Unita' Sanitaria Locale Di Cesena
2005
University of Florence
2003
Early and accurate in vivo diagnosis of Creutzfeldt-Jakob disease (CJD) is necessary for quickly distinguishing treatable from untreatable rapidly progressive dementias future therapeutic trials. This early becoming possible using the real-time quaking-induced conversion (RT-QuIC) seeding assay, which detects minute amounts disease-specific pathologic prion protein cerebrospinal fluid (CSF) or olfactory mucosa (OM) samples.To develop an algorithm CJD by RT-QuIC assay on CSF samples, OM...
Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyotrophic lateral sclerosis (ALS) and Paget disease of bone. In present study, we analyzed SQSTM1 sequence mutations an extended cohort 1,808 patients frontotemporal lobar degeneration (FTLD), ascertained within European Early-Onset Dementia consortium. As control dataset, sequenced 1,625 individuals whole-exome data 2,274 German (total n = 3,899). Association rare was calculated a meta-analysis...
We investigated the mutation spectrum of TANK-Binding Kinase 1 (TBK1) gene and its associated phenotypic by exonic resequencing TBK1 in a cohort 2,538 patients with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), or FTD plus ALS, ascertained within European Early-Onset Dementia Consortium. assessed pathogenicity predicted protein-truncating mutations measuring loss RNA expression. Functional effect in-frame amino acid deletions missense was further explored vivo on...
The early and accurate in vivo diagnosis of sporadic Creutzfeldt–Jakob disease (sCJD) is essential order to differentiate CJD from treatable rapidly progressive dementias. Diagnostic investigations supportive clinical include magnetic resonance imaging (MRI), electroencephalogram (EEG), 14-3-3 protein detection, and/or real-time quaking-induced conversion (RT-QuIC) assay positivity the cerebrospinal fluid (CSF) or other tissues. total CSF tau concentration has also been used a setting for...
The molecular profiles of perchloric acid solutions extracted from the flesh Sparus aurata fish specimens, produced according to different aquaculture systems, have been investigated. 1H-NMR spectra aqueous extracts are indicative differences in metabolite content reared under conditions that already distinguishable at their capture, and substantially maintain same after sixteen days storage ice. metabolic studied by top-down chemometric analysis. results this exploratory investigation show...
A biallelic intronic AAGGG repeat expansion in the Replication Factor C subunit 1 (RFC1) gene has been recently associated with Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome, a disorder often presenting as slowly evolving sensory neuropathy at onset. "Chronic Idiopathic Axonal Polyneuropathy" (CIAP) is common indolent axonal of adulthood which remains without an identifiable cause despite thorough investigations.We screened 234 probands diagnosed CIAP for pathogenic RFC1...
Each of ten batches portion-size farmed European sea bass (overall number = 200, mean weight ± standard error 312 5 g; total length s.e. 30.5 0.3 cm) was randomly divided into four equally numbered subsamples (n 5). Within batch, one subsample represented the raw reference (RW), while others were allotted to oven broiling (OB), baking in aluminium foil (BF) or microwaving (MW), selected as mild cooking techniques and therefore among preferred by Italian fish-eaters. Raw cooked flesh...
The authenticity of fish products has become an imperative issue for authorities involved in the protection consumers against fraudulent practices and market stabilization. present study aimed to provide a method authentication European sea bass (Dicentrarchus labrax) according requirements seafood labels (Regulation 1379/2013/EU). Data on biometric traits, fatty acid profile, elemental composition, isotopic abundance wild reared (intensively, semi-intensively, extensively) specimens from 18...
Abstract Lipid determination by the Smedes method was tested in an interlaboratory trial performed nine laboratories from seven countries belonging to West European Fish Technologists Association Analytical Methods Working Group. Five samples of fish and fishery products with different lipid contents, including two blind duplicates, were distributed among participants. All applied a slightly modified method, which included extraction lipids cyclohexane isopropanol, transfer phase addition...
Abstract Hereditary neuropathies may be misdiagnosed with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). A correct diagnosis is crucial for avoiding unnecessary therapies and access genetic counseling. We report on nine patients (seven men, mean age 49.2 ± 16.1) diagnosed treated as CIDP, in whom mutations or variants of unknown significance (VUS) genes associated hereditary were reported. All underwent neurological neurophysiological examination, eight also cerebrospinal...
Abstract In this study, we report a novel connexin 32 ( CX32 ) mutation associated with cognitive impairment and differential degree of peripheral nerve involvement. We present clinical, electrophysiological, neuroimaging data on family X‐linked Charcot‐Marie‐Tooth disease caused by 41A >G the gap junction protein beta 1 GJB1 gene. The proband her sister presented severe neuropathy subclinical impairment; proband's brother showed mild neuropathy. This confirms that type X is clinically...
The C9ORF72 repeat expansion is the major cause of frontotemporal lobar degeneration (FTLD), amyotrophic lateral sclerosis (ALS), and FTLD-ALS. In reported pedigree, 47-year old proband, presenting a four-year history dement
The effect of yeast and chromium on gilthead seabream (Sparus auratus L) performance, carcass indices body composition was studied. Whether supplementation affected liver microsomal mixed function oxidases using either multibioprobes (testosterone) or highly specific substrates to cytochrome P450 (CYP) isoforms also investigated. Seabream juveniles (35–37 g initial weight) were allocated into 12 800 L tanks 50 fish each for 87 days fed pelleted experimental diets, i.e. control, supplemented...
PSEN1 gene mutations represent the first cause of familiar early-onset Alzheimer's disease (EOAD). More than 190 in have been reported to date. The clinical phenotype is mainly characterized by cognitive decline but movement disorders