Tiziana Mongini
A5025252739- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Cardiomyopathy and Myosin Studies
- Lysosomal Storage Disorders Research
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Nuclear Structure and Function
- RNA modifications and cancer
- Children's Physical and Motor Development
- Inflammatory Myopathies and Dermatomyositis
- Muscle activation and electromyography studies
- Child Nutrition and Feeding Issues
- Congenital Anomalies and Fetal Surgery
- Genetics and Neurodevelopmental Disorders
- RNA Research and Splicing
- Cerebral Palsy and Movement Disorders
- Carbohydrate Chemistry and Synthesis
- Myasthenia Gravis and Thymoma
- Amyotrophic Lateral Sclerosis Research
- Genomics and Rare Diseases
- Hereditary Neurological Disorders
- Parkinson's Disease Mechanisms and Treatments
- Prosthetics and Rehabilitation Robotics
University of Turin
2016-2025
Azienda Ospedaliera Citta' della Salute e della Scienza di Torino
2015-2024
Neuroscience Institute
2024
University of Verona
2024
Centre for the Observation and Modelling of Earthquakes, Volcanoes and Tectonics
2023
Centro Clinico Nemo
2022
Università Cattolica del Sacro Cuore
2022
Agostino Gemelli University Polyclinic
2022
Fondazione Ricerca Molinette
2012-2021
Ospedale Maggiore
2011-2020
Corticosteroids improve strength and function in boys with Duchenne muscular dystrophy. However, there is uncertainty regarding the optimum regimen dosage.To compare efficacy adverse effects of 3 most frequently prescribed corticosteroid regimens dystrophy.Double-blind, parallel-group randomized clinical trial including 196 aged 4 to 7 years dystrophy who had not previously been treated corticosteroids; enrollment occurred between January 30, 2013, September 17, 2016, at 32 clinic sites 5...
To assess the efficacy of phenylbutyrate (PB) in patients with spinal muscular atrophy a randomized, double-blind, placebo-controlled trial involving 10 Italian centers.One hundred seven children were assigned to receive PB (500 mg/kg/day) or matching placebo on an intermittent regimen (7 days on/7 off) for 13 weeks. The Hammersmith functional motor scale (primary outcome measure), myometry, and forced vital capacity assessed at baseline weeks 5 13.Between January September 2004, 107 aged 30...
<h3>Objectives:</h3> Myoclonic epilepsy with ragged-red fibers (MERRF) is a rare mitochondrial syndrome, mostly caused by the 8344A>G DNA mutation. Most of previous studies have been based on single case/family reports or series few patients. The primary aim this study was characterization large cohort patients secondary revision previously published data. <h3>Methods:</h3> Retrospective, database-based (Nation-wide Italian Collaborative Network Mitochondrial Diseases) and systematic...
The aim of the study was to assess different outcome measures in a cohort ambulant boys with Duchenne muscular dystrophy (DMD) over 12 months order establish spectrum possible changes relation age and steroid treatment.The is longitudinal multicentric study. A total 106 patients DMD were assessed using 6-minute walk test (6MWT) North Star Ambulatory Assessment (NSAA) at baseline months. Clinical data including treatment collected.During study, we observed mean decline 25.8 meters 6MWT SD...
The 6 minute walk test has been recently chosen as the primary outcome measure in international multicenter clinical trials Duchenne muscular dystrophy ambulant patients. aim of study was to assess spectrum changes at 3 years individual measures, their correlation with steroid treatment, age and values baseline. Ninety-six patients from 11 centers were assessed baseline 12, 24 36 months after using North Star Ambulatory Assessment. Three boys (3%) lost ability perform within 12 months,...
Objective To retrospectively investigate safety and efficacy of nusinersen in a large cohort adult Italian patients with spinal muscular atrophy (SMA). Methods Inclusion criteria were: (1) clinical molecular diagnosis SMA2 or SMA3; (2) treatment started age (>18 years); (3) data available at least baseline (T0-beginning treatment) 6 months (T6). Results We included 116 (13 103 SMA3) median first administration 34 years (range 18–72). The Hammersmith Functional Rating Scale Expanded...
Objectives The aim of the study was i) to assess spectrum changes over 24 months in ambulant boys affected by Duchenne muscular dystrophy, ii) establish difference between first and second year results iii) identify possible early markers loss ambulation. Methods One hundred thirteen patients (age range 4.1–17, mean 8.2) fulfilled inclusion criteria, 67 113 were on daily 40 intermittent steroids, while 6 not steroids. All assessed using Minute Walk Test (6MWT), North Star Ambulatory...
Facioscapulohumeral muscular dystrophy has been genetically linked to reduced numbers (≤8) of D4Z4 repeats at 4q35 combined with 4A(159/161/168) DUX4 polyadenylation signal haplotype. However, we have recently reported that 1.3% healthy individuals carry this molecular signature and 19% subjects affected by facioscapulohumeral do not alleles eight or fewer repeats. Therefore, prognosis for carrying risk become more complicated. To test additional prognostic factors, measured the degree motor...
To apply next-generation sequencing (NGS) for the investigation of genetic basis undiagnosed muscular dystrophies and myopathies in a very large cohort patients.We applied an NGS-based platform named MotorPlex to our diagnostic workflow test muscle disease genes with high sensitivity specificity small DNA variants. We analyzed 504 patients mostly referred as being affected by limb-girdle dystrophy or congenital myopathy.MotorPlex provided complete molecular diagnosis 218 cases (43.3%). A...
Limb girdle muscular dystrophies (LGMDs) are characterized by high molecular heterogeneity, clinical overlap, and a paucity of specific biomarkers. Their definition is fundamental for prognostic therapeutic purposes.We created an Italian LGMD registry that included 370 molecularly defined patients. We reviewed detailed retrospective prospective data compared each subtype differential diagnosis purposes.LGMD types 2A 2B the most frequent forms in Italy. The ages at disease onset, progression,...
The aim of this international collaborative effort was to report 36-month longitudinal changes using the 6MWT in ambulant patients affected by Duchenne muscular dystrophy amenable skip exons 44, 45, 51 or 53.
In the previously reported Comparative Enzyme Replacement Trial With neoGAA Versus rhGAA (COMET) trial, avalglucosidase alfa treatment for 49 weeks showed clinically meaningful improvements in upright forced vital capacity (FVC) percent predicted and 6-minute walk test (6MWT) compared with alglucosidase alfa.
Abstract In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of inheritance have been described the neuromuscular disease field. Here we show that predicted deleterious SRPK3 , encoding X-linked serine/argenine protein kinase 3, lead a progressive early onset skeletal muscle myopathy only when combination with heterozygous TTN gene. The co-occurrence / was not seen among 76,702 healthy male individuals, and statistical...
Abstract Background and purpose Two novel enzyme replacement therapies (ERTs), studied in phase 3 trials late‐onset Pompe patients, reached marketing authorization by the European Medicines Agency 2022 2023. The Consortium (EPOC) updates extends scope of 2017 recommendations for starting, switching stopping ERT. Methods consists 25 neuromuscular metabolic experts from eight countries. This update was performed after an in‐person meeting, three rounds discussion voting to provide a consensus...
Objective In the last few years some of therapeutical approaches for Duchenne muscular dystrophy (DMD) are specifically targeting distinct groups mutations, such as deletions eligible skipping individual exons. The aim this observational study was to establish whether patients with mutations have different profiles changes on 6 minute walk test (6MWT) over a 12 month period. Methods 6MWT performed in 191 ambulant DMD boys at baseline and months later. results were analysed using...
<h3>Objective:</h3> We provide a nationwide population study of patients with congenital muscular dystrophy in Italy. <h3>Methods:</h3> Cases were ascertained from the databases all tertiary referral centers for pediatric neuromuscular disorders and genetic diagnostic which tests these forms are performed. <h3>Results:</h3> The includes 336 point prevalence 0.563 per 100,000. Mutations identified 220 (65.5%). cohort was subdivided into categories based on most recent classifications...
<h3>Objective:</h3> To test the effect of single nucleotide polymorphism −66 T>G (rs28357094) in osteopontin gene (<i>SPP1</i>) on functional measures over 12 months Duchenne muscular dystrophy (DMD). <h3>Methods:</h3> This study was conducted a cohort ambulatory patients with DMD from network Italian neuromuscular centers, evaluated longitudinally North Star Ambulatory Assessment (NSAA) and 6-Minute Walk Test (6MWT) at entry after months. Genotype rs28357094 determined completion...
Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases childhood and adulthood, with variable clinical histopathological expression depending on the type location mutation. Mutations in head neck domains a well-established cause hypertrophic cardiomyopathy whereas mutation distal regions have been associated range skeletal or without cardiac involvement, including Laing myopathy storage myopathy. Recently spectrum phenotypes mutations MYH7 has...