A5057559893- Mesenchymal stem cell research
- Mitochondrial Function and Pathology
- Migraine and Headache Studies
- Molecular Biology Techniques and Applications
- Osteoarthritis Treatment and Mechanisms
- Genetic Neurodegenerative Diseases
- Endoplasmic Reticulum Stress and Disease
- Hereditary Neurological Disorders
- Muscle Physiology and Disorders
- Ubiquitin and proteasome pathways
- Neuroscience of respiration and sleep
- Skin and Cellular Biology Research
- Salivary Gland Tumors Diagnosis and Treatment
- DNA Repair Mechanisms
- Head and Neck Anomalies
- Olfactory and Sensory Function Studies
- Tissue Engineering and Regenerative Medicine
- Cystic Fibrosis Research Advances
- Bipolar Disorder and Treatment
- Periodontal Regeneration and Treatments
- Neurological and metabolic disorders
- Neurological diseases and metabolism
- interferon and immune responses
- Adipokines, Inflammation, and Metabolic Diseases
- Trigeminal Neuralgia and Treatments
Istituti di Ricovero e Cura a Carattere Scientifico
2007-2025
Istituto Ortopedico Galeazzi
2024-2025
Center for Genomic Science
2016-2018
Istituto Nazionale di Fisica Nucleare, Sezione di Milano
2016
Centre Hospitalier Universitaire de Liège
2007
Fondazione FADOI
2005-2006
European Brain Research Institute
2005
University of Siena
2004
Institute of Neurological Sciences
2004
Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 and 22 years, cerebellar atrophy, peripheral neuropathy, (OMA), elevated serum alpha-fetoprotein (AFP) levels. Recessive mutations in SETX have been described AOA2 patients.To describe the clinical features of to identify patients from four Italian families.The underwent examination, routine laboratory tests, nerve conduction studies, sural biopsy, brain MRI. All were screened for mutations.All had...
Basilar migraine (BM), familial hemiplegic (FHM), and sporadic (SHM) are phenotypically similar subtypes of with aura, differentiated only by motor symptoms, which absent in BM. Mutations CACNA1A ATP1A2 have been found FHM. The authors detected a novel mutation the gene (R548H) members family BM, suggesting that BM FHM may be allelic disorders.
<b>Objectives:</b> In migraine, an interictal reduction of mitochondrial energy metabolism and a preventive effect high-dose riboflavin were reported. To explore the relation between two, we tested if therapeutic response to is associated with specific DNA (mtDNA) haplogroups. We focused our attention on haplogroup H, which known differ from others in terms metabolism. <b>Methods:</b> Sixty-four migraineurs completed 4-month open trial (400 mg QD) genotyped blindly for mtDNA <b>Results:</b>...
<b><i>Background:</i></b> A complicated form of recessive hereditary spastic paraplegias (HSPs) with thin corpus callosum (TCC) was first described in Japan, and most the Japanese families showed linkage to chromosome 15q13–15. HSP locus (SPG11) has also been mapped 15q13–15 Italian North American without TCC, it overlaps region identified families. <b><i>Objective:</i></b> To study clinically genetically 12 TCC. <b><i>Methods:</i></b> The authors investigated 18 affected 30 healthy...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset familial disease with prominent myelinated fibers in the optic fundus. ARSACS frequent region Quebec but rare elsewhere. Mutations <i>SACS</i>, encoding sacsin, a protein unknown function, are associated ARSACS. The authors identified three new <i>SACS</i> mutations two Italian patients whose phenotype closely matches that cases, without retinal striation.
Background: Myelinated retinal nerve fibers are considered a hallmark of autosomal recessive spastic ataxia Charlevoix-Saguenay (ARSACS) in French Canadian patients. The demonstration worldwide distribution this disease, as well the almost invariable presence normal retina on fundoscopy cases outside Canada, suggests that more quantitative methodologies needed to assess ARSACS. Methods: To characterize better features ARSACS, we studied five Italian patients by means optical coherence...
Aim: Mesenchymal stem cells (MSCs) are a promising therapeutic strategy for osteoarthritis (OA), largely due to their regenerative potential, which is attributed in part secretome. The secretome includes soluble factors and extracellular vesicles (EVs). Given that MSCs sensitive various culture conditions, this study aims investigate the effects of different media supplemented with either fetal bovine serum (FBS) (F), platelet lysate (P), or serum/xeno-free (S/X) on composition potential...
Familial hemiplegic migraine type 1 (FHM1) is a form of with aura caused by heterozygous mutations in 4 genes: CACNA1A, ATP1A2, SNC1A and PRRT2, but further heterogeneity expected. Here have been described clinical molecular features patients suffering from Aura (MA), without (MO) attacks. Next Generation Sequencing TruSeq Custom Amplicon for CACNA1A ATP1A2 gene has performed. All genetic variants confirmed Sanger sequencing all samples were also analyzed MLPA assay ATP1A2-CACNA1A genes to...
Among the available therapeutics for conservative treatment of osteoarthritis (OA), mesenchymal stromal cells (MSCs)-based products appear to be most promising. Alongside minimally manipulated cell-based orthobiologics, where MSCs are engine bioactive properties, cell expansion under good manufacturing practice (GMP) settings is actively studied obtain clinical-grade pure populations able concentrate biological activity. One main characteristics GMP protocols use reagents, including recently...
The therapeutic effect of mesenchymal stromal cells (MSCs) has been described for a variety disorders, including those affecting musculoskeletal tissues. In this context, the literature reports several data about regenerative effectiveness MSCs derived from bone marrow, adipose tissue, and an amniotic membrane (BMSCs, ASCs, hAMSCs, respectively), either when expanded or acting as clinical-grade biologic pillars products used at point care. To date, there is no evidence superiority one source...
Mesenchymal stromal cells (MSCs) and their released factors (secretome) are intriguing options for regenerative medicine approaches based on the management of inflammation tissue restoration, as in joint disorders like osteoarthritis (OA). Production strategy may modulate secretome fingerprints, latter, effect serum removal by starvation used clinical-grade protocols has been underestimated. In this work, molecular profile interleukin 1 beta (IL1β)-primed adipose-derived MSCs (ASCs) was...
Background Basilar-type Migraine (BM) and Familial Hemiplegic (FHM) are phenotypically similar subtypes of migraine with aura, differentiated only by motor symptoms, which characterize FHM.The latter is thus far the subtype in mutations have been found CACNA1A ATP1A2 genes.Methods We looked for members a family BM.Screening was performed direct sequencing on blood genomic DNA.Results No were CACNA1A.However, we identified novel point mutation exon 12 gene resulting replacement arginine 548...