Antonio Di Muzio
A5083220865- Peripheral Neuropathies and Disorders
- Hereditary Neurological Disorders
- Muscle Physiology and Disorders
- Genetic Neurodegenerative Diseases
- Neurogenetic and Muscular Disorders Research
- Cardiomyopathy and Myosin Studies
- Myasthenia Gravis and Thymoma
- Peripheral Nerve Disorders
- Nerve injury and regeneration
- Glycogen Storage Diseases and Myoclonus
- Occupational and environmental lung diseases
- Glioma Diagnosis and Treatment
- Lysosomal Storage Disorders Research
- Cancer Immunotherapy and Biomarkers
- Neurological disorders and treatments
- Botulinum Toxin and Related Neurological Disorders
- Parkinson's Disease Mechanisms and Treatments
- Ion channel regulation and function
- Pleural and Pulmonary Diseases
- Parkinson's Disease and Spinal Disorders
- Transcranial Magnetic Stimulation Studies
- Inflammatory Myopathies and Dermatomyositis
- Brain Metastases and Treatment
- Mitochondrial Function and Pathology
- Amyotrophic Lateral Sclerosis Research
Humanitas University
2022-2025
University of Chieti-Pescara
2014-2025
IRCCS Humanitas Research Hospital
2022-2025
Ospedale SS. Annunziata
2007-2022
Azienda Sanitaria Locale Alessandria
2015-2016
Casale (Switzerland)
2015-2016
Ospedale di Santo Spirito
2016
CTO Hospital
2015
CESI (Italy)
2015
Foundation University Islamabad
2004-2007
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...
Abstract Background Myasthenia gravis (MG) is an autoimmune disorder with fluctuating weakness that causes significant disability and morbidity. Comorbidities may influence the course of MG, particularly in specific subgroups. The aim this study to investigate frequency comorbidities MG patients compared healthy controls (HC) evaluate their distribution according age at disease onset, sex, severity. Methods attending University Hospital “Paolo Giaccone” Palermo “SS Annunziata” Chieti were...
Hereditary amyloid transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a rare, inherited, multisystemic, progressive adult-onset disease, affecting sensorimotor nerves, and various organs. It caused by mutations in the TTR gene, leading to misfolded monomers that aggregate, forming fibrils. Patisiran small, double-stranded interfering RNA encapsulated lipid nanoparticle, designed enter hepatocytes selectively target mRNA reduce both variant wild-type (wt). This study presents...
Immune checkpoint inhibitors (ICIs) revolutionized cancer therapy, yet require management of immune-related adverse events (irAEs). Fulminant myocarditis is a rare irAE, but lower-severity cardiac are being reported more frequently, leading to an unmet need for irAE prevention, early diagnosis, and treatment, especially long-life-expectancy patients. We recruited 57 patients, stratified according therapy regime (monotherapy (30%) or combination (33%) cohort) history disease presence at least...
Based on the 7-year experience of Italian Clinical Network for FSHD, we revised FSHD clinical form to describe, in a harmonized manner, phenotypic spectrum observed FSHD. The new Comprehensive Evaluation Form (CCEF) defines various categories by combination different features. inter-rater reproducibility CCEF was assessed between two examiners using kappa statistics evaluating 56 subjects carrying molecular marker used diagnosis. classifies: (1) presenting facial and scapular girdle muscle...
Objectives Facioscapulohumeral muscular dystrophy type 1 (FSHD1) has been genetically linked to reduced numbers (≤8) of D4Z4 repeats at 4q35. Particularly severe FSHD cases, characterised by an infantile onset and presence additional extra-muscular features, have associated with the shortest alleles 1–3 (1–3 DRA). We searched for signs perinatal evaluated disease outcome through systematic collection clinical anamnestic records de novo familial index cases their relatives, carrying DRA....
<h3>Objective</h3> A multicentre observational study was aimed to assess the prevalence of late-onset Pompe disease (LOPD) in a large high-risk population, using dried blood spot (DBS) as main screening tool. <h3>Design/methods</h3> 17 Italian neuromuscular centres were involved early diagnosis (LOPED) study. Inclusion criteria were: (1) age ≥5 years, (2) persistent hyperCKaemia and (3) muscle weakness at upper and/or lower limbs (limb-girdle weakness, LGMW). Acid α-glucosidase (GAA)...
Nodes of Ranvier are specialized axonal domains, at which voltage-gated sodium channels cluster. How axons cluster molecules in discrete domains is mostly unknown. Both and glia probably provide constraining mechanisms that contribute to domain formation. Proper channel clustering peripheral nerves depends on contact from Schwann cell microvilli, where least one molecule, gliomedin, binds the complex induces its clustering. Furthermore, mice lacking dystroglycan have aberrant microvilli...
Pompe's disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphaglucosidase gene (GAA). A wide clinical variability occurs also patients sharing same GAA mutations, even within family.For large series of GSDII we collected some data as age onset disease, presence or absence muscular pain, Walton score, 6-Minute Walking Test, Vital Capacity, and Creatine Kinase. DNA was extracted tested for genetic polymorphisms able to influence muscle properties (ACE, ACTN3,...
<h3>Importance</h3> Facioscapulohumeral muscular dystrophy (FSHD) is considered an autosomal dominant disorder, associated with the deletion of tandemly arrayed D4Z4 repetitive elements. The extensive use molecular analysis locus for FSHD diagnosis has revealed wide clinical variability, suggesting that subgroups patients exist among carriers reduced allele (DRA). <h3>Objective</h3> To investigate expression in genetic subgroup a DRA 7 to 8 repeat units (RUs). <h3>Design, Setting, and...
Glioblastoma (GBM) is the most aggressive and lethal primary brain tumor, bearing a survival estimate below 10% at five years, despite standard chemoradiation treatment. At recurrence, systemic treatment options are limited of care not well defined, with inclusion in clinical trials being highly encouraged. So far, use immunotherapeutic strategies GBM has proved to significantly improve patients’ prognosis newly diagnosed GBM, nor recurrent setting. Probably this do unique immune environment...
Since February 2020, the outbreak of COVID-19 in Italy has forced health care system to undergo profound rearrangements its services and facilities, especially worst-hit areas Northern Italy. In this setting, inpatient outpatient had rethink reorganize their activities meet needs patients during "lockdown". The Italian Association Myology developed a survey estimate impact these changes on affected by neuromuscular disorders specialized centers acute phase pandemic.We an electronic that was...