Maria Giovanna Marrosu
A5017687239- Multiple Sclerosis Research Studies
- T-cell and B-cell Immunology
- Polyomavirus and related diseases
- Parkinson's Disease Mechanisms and Treatments
- Peripheral Neuropathies and Disorders
- Amyotrophic Lateral Sclerosis Research
- Systemic Lupus Erythematosus Research
- Immunotherapy and Immune Responses
- Systemic Sclerosis and Related Diseases
- Cytokine Signaling Pathways and Interactions
- RNA Research and Splicing
- Neurological disorders and treatments
- Mycobacterium research and diagnosis
- Reproductive System and Pregnancy
- Neurological diseases and metabolism
- Botulinum Toxin and Related Neurological Disorders
- Nuclear Structure and Function
- Rheumatoid Arthritis Research and Therapies
- Monoclonal and Polyclonal Antibodies Research
- Hereditary Neurological Disorders
- Pregnancy and Medication Impact
- Neurogenetic and Muscular Disorders Research
- Diabetes and associated disorders
- Virology and Viral Diseases
- Muscle Physiology and Disorders
University of Catania
2011-2022
Tecnologie Avanzate (Italy)
2022
University of Cagliari
2012-2021
ATS Sardegna (Italy)
2017-2021
Ospedale degli Infermi
2001-2019
Associazione Italiana Sclerosi Multipla
1999-2019
Multiple Sclerosis Foundation
2018
Vita-Salute San Raffaele University
2017
Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele
2017
Centre National de la Recherche Scientifique
2016
<b>Background: </b> There is no consensus method for determining progression of disability in patients with multiple sclerosis (MS) when each patient has had only a single assessment the course disease. <b>Methods: Using data from two large longitudinal databases, authors tested whether cross-sectional assessments are representative disease severity as whole. An algorithm, Multiple Sclerosis Severity Score (MSSS), which relates scores on Expanded Disability Status Scale (EDSS) to...
Several forms of hereditary dilated cardiomyopathy have been identified; with the exception those resulting from mutations mitochondrial DNA,1,2 no pathological finding can be used to differentiate conditions, so their distinction depends on pattern transmission. Autosomal recessive, autosomal dominant, and matrilinear reported; several families X-linked also described3–5. is a progressive myocardial disease presenting as congestive heart failure in teenage boys without clinical signs...
Genomewide association studies of autoimmune diseases have mapped hundreds susceptibility regions in the genome. However, only for a few signals has causal gene been identified, and even fewer variant underlying mechanism defined. Coincident associations DNA variants affecting both risk disease quantitative immune variables provide an informative route to explore mechanisms drug-targetable pathways.Using case-control samples from Sardinia, Italy, we performed genomewide study multiple...
Objective To identify shared polygenic risk and causal associations in amyotrophic lateral sclerosis (ALS). Methods Linkage disequilibrium score regression Mendelian randomization were applied a large‐scale, data‐driven manner to explore genetic correlations relationships between >700 phenotypic traits ALS. Exposures consisted of publicly available genome‐wide association studies (GWASes) summary statistics from MR Base LD‐hub . The outcome data came the recently published ALS GWAS...
From the retrospective study of 3375 patients affected by clinically definite or probable multiple sclerosis (MS), 149 were collected with onset disease before age 16 years (4.4%). Female/male ratio was higher than that adult MS (AOMS) population (2.2 vs 1.6) particularly at ages after 12 (3.0, P=0.007 AOMS). Among initial symptoms, those suggesting brainstem dysfunction (25%) more frequent compared to other systems and AOMs symptoms; motor sensory disturbances slightly less (respectively...
A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for ∼40% familial amyotrophic lateral sclerosis cases European ancestry. The aim current article was describe phenotype carrying by providing detailed clinical description affected from representative multi-generational kindreds, and analysing age onset, gender ratio survival cohort patients with sclerosis. We collected DNA analysed...
The limited availability of prevalence data based on a representative sample the general population, and number diseases considered in studies about co-morbidity are critical factors study autoimmune diseases. This paper describes 12 population South Sardinia, Italy, tests hypothesis an overall association among these diseases.Data were obtained from 21 GPs. included 25,885 people. Prevalence expressed with 95% Poisson C.I. between was tested by evaluating co-occurrence within...
To assess pregnancy and fetal outcomes after in utero exposure to interferon-β (IFNβ) all pregnancies occurring women with multiple sclerosis (MS) during the study period, a specific focus on risk of spontaneous abortion.In this cohort study, data were gathered through standardized, semi-structured interview. Patients who discontinued IFNβ less than 4 weeks from conception (exposed) compared those had drug at least or never treated (not exposed). Possible confounders handled multivariate...
<h3>Objective:</h3> To assess the relationship between breastfeeding and risk of puerperal relapses in a large cohort patients with multiple sclerosis (MS). <h3>Methods:</h3> We prospectively followed-up pregnancies occurring 2002 2008 women MS, recruited from 21 Italian MS centers, gathered data on through standardized interview. The after delivery was assessed using Cox regression analysis. <h3>Results:</h3> A total 302 out 423 298 resulted full-term deliveries. Patients were followed up...
BICAMS (Brief International Cognitive Assessment for Multiple Sclerosis) has been recently developed as brief, practical and universal assessment tool cognitive impairment in MS subjects. It includes the Symbol Digit Modalities Test (SDMT), California Verbal Learning Test-2 (CVLT2) Brief Visuospatial Memory Test-Revised (BVMT-R) . In this study we aimed at gathering regression based normative data battery Italian population.Healthy subjects were consecutively recruited among patient friends...
To assess fetal risk after pregnancy exposure to natalizumab in women with multiple sclerosis (MS), a specific focus on spontaneous abortion (SA) and congenital anomalies (CA).Data of all pregnancies occurring between 2009 2015 patients MS treated referring 19 participating sites were collected compared those untreated injectable immunomodulatory agents. Rates SA CA also reported the Italian population. Multivariable logistic linear regression models performed.A total 92 tracked 83 women. In...
<h3>Objective:</h3> To provide new insights into the role of markers response to interferon-β therapy in multiple sclerosis (MS) a multicenter setting, focusing on relevance MRI lesions combination with clinical variables. <h3>Methods:</h3> A large dataset was collected within Magnetic Resonance Imaging MS (MAGNIMS) network. This included cohort patients relapsing-remitting treatment, and assessments during first year follow-up at least 2 additional years. Heterogeneity among centers...
<h3>Background</h3> The approval of 9-δ-tetrahydocannabinol and cannabidiol (THC:CBD) oromucosal spray (Sativex) for the management treatment-resistant multiple sclerosis (MS) spasticity opened a new opportunity many patients. aim our study was to describe Sativex effectiveness adverse events profile in large population Italian patients with MS daily practice setting. <h3>Methods</h3> We collected data all starting between January 2014 February 2015 from mandatory medicines agency (AIFA)...
Abstract There is evidence that the clinical course of multiple sclerosis age related. The present study evaluated relationship between and rate disability progression in a large hospital‐based cohort definite cases (n= 1,463). Patients were followed every 6 to 12 months for total period observation 11,387.8 person‐years. Expanded Disability Status Scale scores increased significantly with increasing current longer duration disease ( p =0.007). Median times reach 4.0 6.0, assessed using an...
Charcot-Marie-Tooth disease (CMT), or hereditary motor and sensory neuropathy (HMSN), is a clinically genetically heterogeneous condition. Mutations of the myelin protein zero (MPZ) gene have been associated with CMT1B, Dejerine-Sottas disease, congenital hypomyelination, which are inherited demyelinating neuropathies characterized by different clinical severity. HMSN type II (HMSN II) CMT2, axonal form CMT, heterogeneous. Linkage to 1p35-p36 (CMT2A), 3q (CMT2B), 7p (CMT2D) chromosomes has...
<b><i>Background:</i></b> Autologous hematopoietic stem cell transplantation (ASCT) has been recently utilized with encouraging results in patients poorly controlled MS. <b><i>Objective:</i></b> To determine severe cases of MS the effect ASCT on gadolinium (Gd)-enhanced MRI and to obtain information clinical course safety. <b><i>Methods:</i></b> In a cooperative study, 10 rapidly evolving secondary progressive were transplanted, after BEAM conditioning regimen (carmustine, etoposide,...
Several studies have indicated that multiple sclerosis (MS) is associated and linked to the major histocompatibility complex (MHC)/human leukocyte antigen (HLA) region of chromosome 6p21.3, but exact location nature primarily locus within HLA still controversial largely presumptive. By linkage disequilibrium mapping, we systematically investigated this in founder population Sardinia determine relative associations various loci with MS. An overall 11.4 Mb region, which encompasses whole...
Fifty-four subjects (36 females and 18 males) affected by clinically definite multiple sclerosis (MS) with onset of the disease at 15 years age or before were prospectively studied in five Italian MS centres. Female/male ratio was 4.7 ≥12 years, suggesting a role hormonal changes triggering onset. The mean follow-up duration 10.9-5.6 years. functional systems more frequently involved pyramidal brainstem (both 28% cases). monosymptomatic 31 (57%). course relapsing-remitting 39 (72%)...
Multiple sclerosis (MS) is a common neurological disease caused by genetic and environmental factors. Previous analyses have suggested that the MHC/HLA region on chromosome 6p21 contains an MS-predisposing component. Which of many genes present in this primarily responsible for susceptibility still open issue. In study, we evaluated, large cohort MS families from Mediterranean island Sardinia, role allelic variation at HLA-DRB1, DQA1 DQB1 candidate loci predisposition. Using transmission...