Antonella Pini
A5057258122- Muscle Physiology and Disorders
- Genetic Neurodegenerative Diseases
- Cardiomyopathy and Myosin Studies
- Neurogenetic and Muscular Disorders Research
- Epilepsy research and treatment
- Children's Physical and Motor Development
- Mitochondrial Function and Pathology
- RNA Research and Splicing
- RNA modifications and cancer
- Nuclear Structure and Function
- Cerebral Palsy and Movement Disorders
- Genetics and Neurodevelopmental Disorders
- Muscle activation and electromyography studies
- Advanced Neuroimaging Techniques and Applications
- Ion channel regulation and function
- Transcranial Magnetic Stimulation Studies
- Congenital Anomalies and Fetal Surgery
- Metabolism and Genetic Disorders
- Neuroscience and Neuropharmacology Research
- Glycogen Storage Diseases and Myoclonus
- RNA regulation and disease
- Cardiac electrophysiology and arrhythmias
- Genomics and Rare Diseases
- Amyotrophic Lateral Sclerosis Research
- Systemic Lupus Erythematosus Research
Istituto delle Scienze Neurologiche di Bologna
2016-2025
Institute of Neurological Sciences
2013-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2014-2024
University of Bologna
1987-2023
Azienda USL di Bologna
2023
Centro Clinico Nemo
2022
Università Cattolica del Sacro Cuore
2022
Agostino Gemelli University Polyclinic
2022
Fondazione Stella Maris
2021
Ospedale Bellaria
2012-2018
<b>Background:</b> Congenital muscular dystrophies (CMD) with reduced glycosylation of alpha-dystroglycan (α-DG) are a heterogeneous group conditions associated mutations in six genes encoding proven or putative glycosyltransferases. <b>Objectives:</b> The aim the study was to establish prevalence Italian population and spectrum clinical brain MRI findings. <b>Methods:</b> As part multicentric involving all tertiary neuromuscular centers Italy, <i>FKRP</i>, <i>POMT1</i>, <i>POMT2</i>,...
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...
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,...
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...
Efficacy and safety of onasemnogene abeparvovec (OA) for Spinal Muscular Atrophy infants under 7 months <8.5 kg has been reported in clinical trials. This study examines efficacy predictors a wide age (22 days-72 months) weight (3.2-17 kg) range, also including patients previously treated with other drugs.46 were 12 between January 2020 March 2022. Safety profile was available another 21 at least 6 month follow-up after OA infusion. 19/67 treatment naïve when OA. Motor function measured the...
Abstract A randomized double‐blind controlled trial of deflazacort was conducted in 28 Duchenne muscular dystrophy patients either treated with 2.0 mg/kg alternate‐day therapy or placebo. The group showed significant improvement climbing stairs ( P < 0.01), rising from a chair, Gower's maneuver, and walking 0.0025) after 6 months treatment. After 1 year, all the above changes remained significantly improved MRC index better 0.05) croup. 2 years, change found index: higher scores walking,...
SUMMARY Seven boys aged between 14 months and 13 years with focal or multifocal partial epilepsy had very unusual seizures, characterized by series of periodic bilateral spasms. These consisted a brief, complex movement slight to severe intensity, mainly involving the axial muscles, raising shoulders, adversion eyes head, often rictus‐type facial grimaces occasional stretching legs emission guttural sound. The ictal EEG showed pattern complexes, slow wave superimposed fast activity. This...
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...
Background The role of timed items, and more specifically, the time to rise from floor, has been reported as an early prognostic factor for disease progression loss ambulation. aim our study was investigate possible effect floor test on changes observed 6MWT over 12 months in a cohort ambulant Duchenne boys. Subjects methods A total 487 12-month data points were collected 215 age ranged between 5.0 20.0 years (mean 8.48 ±2.48 DS). Results results at baseline 1.2 29.4 seconds boys who could...
The aim of the study was to establish 24 month changes in upper limb function using a revised version performance test (PUL 2.0) large cohort ambulant and non-ambulant boys with Duchenne muscular dystrophy identify possible trajectories progression. Of 187 patients studied, 87 were (age range: 7–15.8 years), 90 9.08–24.78). total scores changed significantly over time (p<0.001). Non-ambulant had lower at baseline (mean 19.7) when compared ones 38.4). They also bigger decrease months (4.36 vs...
Dystrophinopathies are inherited diseases caused by mutations in the dystrophin (DMD) gene for which testing is mandatory genetic diagnosis, reproductive choices and eligibility personalized trials. We genotyped DMD our Italian cohort of 1902 patients (BMD n=740, 39%; n=1162, 61%) within a nationwide study involving 11 diagnostic centers 10-year window (2008-2017). In patients, we found deletions 57%, duplications 11% small 32%. BMD, 78%, 9% 13%. there higher number more frequent than...
<h3>Objectives:</h3> Our aim was to conduct a comparative study in large cohort of myopathic patients carrying <i>LMNA</i> gene mutations evaluate clinical and molecular features associated with different phenotypes. <h3>Methods:</h3> We performed retrospective 78 mutation 30 familial cases without muscle involvement. analyzed characterizing the various forms <i>LMNA</i>-related myopathy through correlation statistics. <h3>Results:</h3> Of patients, 37 (47%) had limb-girdle muscular...
High variability in patients' changes 6 minute walk distance (6MWD) over time has complicated clinical trials of treatment efficacy Duchenne muscular dystrophy (DMD). We assessed whether boys with DMD could be grouped into classes that shared similar ambulatory function trajectories as measured by 6MWD. Ambulatory aged 5 years or older genetically confirmed who were enrolled a natural history study at 11 care centers throughout Italy included. For each boy, standardized assessments 6MWD...
Abstract SNURPORTIN-1, encoded by SNUPN , plays a central role in the nuclear import of spliceosomal small ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated families who present with atypical muscular dystrophy and neurological defects. Nine hypomorphic biallelic variants, predominantly clustered last coding exon, are ascertained to segregate disease. We demonstrate that mutant SPN1 failed oligomerize...
Abstract Background Although Duchenne and Becker muscular dystrophies, X-linked recessive myopathies, predominantly affect males, a clinically significant proportion of females manifesting symptoms have also been reported. They represent an heterogeneous group characterized by variable degrees muscle weakness and/or cardiac involvement. Though preferential inactivation the normal X chromosome has long considered principal mechanism behind disease manifestation in these females, supporting...
The aim of this study was to establish the possible effect glucocorticoid treatment on upper limb function in a cohort 91 non-ambulant DMD boys and adults age between 11 26 years. All were assessed using Performance Upper Limb test. Forty-eight still after loss ambulation, 25 stopped steroids at time they lost ambulation 18 GC naïve or had while ambulant for less than year. At baseline total scores ranged 0 74 (mean 41.20). mean 47.92 group, 36 those who 30.5 group (p < 0.001). 12-month...