Claudio Semplicini
A5059370759- Muscle Physiology and Disorders
- Glycogen Storage Diseases and Myoclonus
- Lysosomal Storage Disorders Research
- Genetic Neurodegenerative Diseases
- Neurogenetic and Muscular Disorders Research
- Nuclear Structure and Function
- Cardiomyopathy and Myosin Studies
- Nutrition and Health in Aging
- Child Nutrition and Feeding Issues
- Carbohydrate Chemistry and Synthesis
- Metabolism and Genetic Disorders
- Family and Disability Support Research
- Stroke Rehabilitation and Recovery
- Cerebral Palsy and Movement Disorders
- Parkinson's Disease Mechanisms and Treatments
- Mitochondrial Function and Pathology
- Family Caregiving in Mental Illness
- Inflammatory Myopathies and Dermatomyositis
- Alkaline Phosphatase Research Studies
- Cardiovascular Effects of Exercise
- Muscle and Compartmental Disorders
- Cerebrovascular and genetic disorders
- Genomics and Rare Diseases
- RNA Research and Splicing
- Telomeres, Telomerase, and Senescence
University of Padua
2015-2024
Ospedale Sant Antonio
2021-2024
Pitié-Salpêtrière Hospital
2015-2020
Sorbonne Université
2015-2020
Azienda Ospedaliera di Padova
2018-2020
Newcastle University
2016-2019
University College London
2018
Ospedale Maggiore
2018
University of Bologna
2018
Neuroscience Institute
2018
Background and objective Dysferlinopathies are a group of muscle disorders caused by mutations in the DYSF gene. Previous imaging studies describe selective pattern involvement smaller patient cohorts, but large study across entire spectrum dysferlinopathies had not been performed previous findings were correlated with functional tests. Methods We present cross-sectional T1-weighted MRI data from 182 patients genetically confirmed dysferlinopathies. have analysed muscles involved disease...
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,...
<h3>Objective:</h3> To describe the baseline clinical and functional characteristics of an international cohort 193 patients with dysferlinopathy. <h3>Methods:</h3> The Clinical Outcome Study for dysferlinopathy (COS) is multicenter study this disease, evaluating genetically confirmed over 3 years. We present a cross-sectional analysis derived from their assessments. <h3>Results:</h3> There high degree variability in disease onset, pattern weakness, rate progression. No factor, such as...
<h3>Objective</h3> To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA). <h3>Methods</h3> 73 consecutive Italian patients underwent full clinical protocol including biochemical hormonal analyses, genitourinary examination, bone metabolism densitometry, cardiological evaluation muscle pathology. <h3>Results</h3> Creatine kinase levels were slightly to markedly elevated almost all cases (68 73; 94%). 30 (41%) had...
To characterise the pattern and spectrum of involvement on muscle MRI in a large cohort patients with sarcoglycanopathies, which are limb-girdle muscular dystrophies (LGMD2C-2F) caused by mutations one four genes coding for sarcoglycans.Lower limb scans LGMD2C-2F, ranging from severe childhood variants to milder adult-onset forms, were collected 17 neuromuscular referral centres Europe USA. Muscle was evaluated semiquantitatively T1-weighted images according visual score, global assessed as...
Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG SGCD genes. In 2016, several clinicians involved diagnosis, management care patients with LGMDR3-6 created a European Sarcoglycanopathy Consortium. The aim present study was to determine clinical genetic spectrum large cohort sarcoglycanopathy Europe. This an observational retrospective...
Objective Dilated cardiomyopathy (DCM) is a major complication and leading cause of death in Duchenne muscular dystrophy (DMD). DCM onset variable, suggesting modifier effects genetic or environmental factors. We aimed to determine if polymorphisms previously associated with age at loss independent ambulation (LoA) DMD (rs28357094 the SPP1 promoter, rs10880 VTTT/IAAM haplotype LTBP4) also modify onset. Methods A multicentric cohort 178 patients was genotyped by TaqMan assays. performed...
Abstract Introduction: The clinical course of late‐onset Pompe disease is heterogeneous, and new outcome measures are needed to evaluate enzyme replacement therapy (ERT). Methods: We correlated the 6‐Minute Walk Test (6MWT), Walton Gardner‐Medwin (WGM) score, GSGC (Gait, Stairs, Gower, Chair) scores in 40 patients. Results: At baseline, score with both WGM ( P < 0.001, n = 33) 6MWT 26). After 1 year ERT, we observed a significant change gait, stairs chair performance on scale....
To determine the clinical spectrum of limb-girdle muscular dystrophy 2E (LGMD2E) and to investigate whether genetic or biochemical features can predict phenotype disease.All LGMD2E patients followed in participating centers were included. A specific protocol was created, including quantitative evaluation motor, respiratory, cardiac function. Phenotype defined as severe mild if age at loss ambulation occurred before after 18 years. Molecular analysis SGCB gene muscle biopsies...
<h3>Objective</h3> To assess long-term (2 years) effects of bimagrumab in participants with sporadic inclusion body myositis (sIBM). <h3>Methods</h3> Participants (aged 36–85 who completed the core study (RESILIENT [Efficacy and Safety Bimagrumab/BYM338 at 52 Weeks on Physical Function, Muscle Strength, Mobility sIBM Patients]) were invited to join an extension study. Individuals continued same treatment as (10 mg/kg, 3 1 mg/kg or matching placebo administered IV infusions every 4 weeks)....
This study explores burden and social professional support in families of young patients with muscular dystrophies (MDs) Italy.The was carried out on 502 key relatives 4- to 25-year-old suffering from Duchenne, Becker, or Limb-Girdle MD who were living at least 1 adult relative.A total 77.1% reported feelings loss, 74.0% had sadness, 59.1% constraints leisure activities. Burden higher among disability spent more daily hours caregiving. Practical difficulties perceived lower help patient...
Abstract We performed a 1-year longitudinal study of Six Minute Walk Test (6MWT), North Star Ambulatory Assessment (NSAA), and timed function tests in Becker muscular dystrophy (BMD). Skeletal muscle dystrophin was quantified by immunoblot. grouped deletions ending on exon 45 (“del 45-x”, n = 28) or 51 x-51”, 10); isolated 48 deletion 48”, other mutations (n 21). Only patients the “del 45-x” “other” groups became non-ambulatory 5, log-rank p n.s.) unable to run 22, < 0.001). All measures...
Becker muscular dystrophy (BMD) is a neuromuscular disorder allelic to Duchenne (DMD), caused by in-frame mutations in the dystrophin gene, and characterized clinical progression that both milder more heterogeneous than DMD. Muscle magnetic resonance imaging (MRI) has been proposed as biomarker of disease dystrophinopathies. Correlation with clinically meaningful outcome measures such North Star Ambulatory Assessment (NSAA) 6 minute walk test (6MWT) paramount for qualification. In this...
Mutations in the LMNA (lamin A/C) gene have been associated with neuromuscular and cardiac manifestations, but clinical implications of these signs are not well understood.To learn more about natural history LMNA-related disease.Observational study.13 centers Italy from 2000 through 2018.164 carriers an mutation.Detailed cardiologic neurologic evaluation at study enrollment for a median 10 years follow-up.The age was 38 years, 51% participants were female. Neuromuscular manifestations...
This paper focuses on the psychological benefits of caregiving in key relatives patients with muscular dystrophies (MD), a group rare diseases characterized by progressive weakness and restriction patient's functional abilities. We describe whether perceived to be positive experience test relatives' perceptions vary relation their view patient as valued person, degree involvement care, level support provided social network professionals. The study sample included 502 aged 4-25 years,...
Endoplasmic reticulum stress is an emerging significant player in the molecular pathology of connective tissue disorders. In response to endoplasmic stress, cells can upregulate macroautophagy/autophagy, a fundamental cellular homeostatic process used by degrade and recycle proteins or remove damaged organelles. these scenarios, autophagy activation support cell survival. Here we demonstrated vitro vivo approaches that megakaryocytes derived from col6a1−⁄− (collagen, type VI, alpha 1) null...
Glucocorticoids are beneficial in Duchenne muscular dystrophy (DMD). Osteopontin (OPN), the protein product of SPP1, plays a role DMD pathology modulating muscle inflammation and regeneration. A polymorphism SPP1 promoter (rs28357094) has been recognized as genetic modifier DMD, there is evidence suggesting that it modifies response to glucocorticoid treatment. The effect deflazacort on mRNA expression was investigated primary human myoblasts differentiated myotubes with defined rs28357094...