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Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients
Limb girdle muscular dystrophies (LGMD) are characterized by genetic and clinical heterogeneity: seven autosomal dominant and 12 autosomal recessive loci have so far been identified. Aims of thisExpand
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Effects of gender and posture on thoraco-abdominal kinematics during quiet breathing in healthy adults
To investigate the effects of posture and gender on thoraco-abdominal motion and breathing pattern, 34 healthy men and women were studied by Opto-Electronic Plethysmography during quiet breathing inExpand
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A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia
Mutations in the SPG7 gene encoding a mitochondrial protein termed paraplegin, are responsible for a recessive form of hereditary spastic paraparesis. Only few studies have so far been performed inExpand
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A Robust and Self-Paced BCI System Based on a Four Class SSVEP Paradigm: Algorithms and Protocols for a High-Transfer-Rate Direct Brain Communication
In this paper, we present, with particular focus on the adopted processing and identification chain and protocol-related solutions, a whole self-paced brain-computer interface system based on aExpand
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Rib Cage Deformities Alter Respiratory Muscle Action and Chest Wall Function in Patients with Severe Osteogenesis Imperfecta
Background Osteogenesis imperfecta (OI) is an inherited connective tissue disorder characterized by bone fragility, multiple fractures and significant chest wall deformities. CardiopulmonaryExpand
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Multisite Trial Comparing the Efficacy of Constraint-Induced Movement Therapy with that of Bimanual Intensive Training in Children with Hemiplegic Cerebral Palsy: Postintervention Results
Objective: The aim of this study was to compare the effects of modified constraint-induced movement therapy (mCIMT; restraint of unaffected limb combined with unimanual intensive rehabilitation) withExpand
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Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up
Duchenne and Becker muscular dystrophy (DMD and BMD, respectively) are allelic disorders with different clinical presentations and severity determined by mutations in the gene DMD, which encodes theExpand
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Gait pattern in Duchenne muscular dystrophy.
We investigated the gait pattern of 21 patients with Duchenne muscular dystrophy (DMD), compared to 10 healthy controls through 3D Gait Analysis. An overall observation of gait pattern in our DMDExpand
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Are patients with hereditary spastic paraplegia different from patients with spastic diplegia during walking? Gait evaluation using 3D gait analysis.
Patients with hereditary spastic paraplegia (HSP) often resemble patients with mild spastic diplegia (SD), although their motor limitations differ. The aim of this study was to analyse quantitativelyExpand
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3D-Quantitative evaluation of a rigid seating system and dynamic seating system using 3D movement analysis in individuals with dystonic tetraparesis
To improve postural stability in individuals with dystonic cerebral palsy, the concept of a dynamic seat has been suggested as a potential solution. An experimental set-up for the acquisition ofExpand
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