Search Results - "Masciullo, M"
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The Implementation of Predictions During Sequencing
Published in Frontiers in cellular neuroscience (09-10-2019)“…Optimal control mechanisms require prediction capabilities. If one cannot predict the consequences of a motor act or behaviour, one will continually collide…”
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Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis
Published in Clinical genetics (01-10-2017)“…Myotonic dystrophy type 1 (DM1) is a multisystem neuromuscular disease caused by a CTG triplet expansion in the 3′‐untranslated region (3′‐UTR) of DMPK gene…”
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Symbitron Exoskeleton: Design, Control, and Evaluation of a Modular Exoskeleton for Incomplete and Complete Spinal Cord Injured Individuals
Published in IEEE transactions on neural systems and rehabilitation engineering (2021)“…In this paper, we present the design, control, and preliminary evaluation of the Symbitron exoskeleton, a lower limb modular exoskeleton developed for people…”
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Structural cerebellar correlates of cognitive functions in spinocerebellar ataxia type 2
Published in Journal of neurology (01-03-2018)“…Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease involving the cerebellum and characterized by a typical motor syndrome…”
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Microstructural MRI Basis of the Cognitive Functions in Patients with Spinocerebellar Ataxia Type 2
Published in Neuroscience (16-12-2017)“…•Cerebellar microstructural damage affects Middle and Superior Cerebellar Peduncle in SCA2 patients.•Diffusivity changes predominantly reflect the white matter…”
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Neuromuscular Controller Embedded in a Powered Ankle Exoskeleton: Effects on Gait, Clinical Features and Subjective Perspective of Incomplete Spinal Cord Injured Subjects
Published in IEEE transactions on neural systems and rehabilitation engineering (01-05-2020)“…Powered exoskeletons are among the emerging technologies claiming to assist functional ambulation. The potential to adapt robotic assistance based on specific…”
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Cocaine-related cervical spinal cord infarction: a case report and review of the literature
Published in Journal of medical case reports (02-02-2022)“…Case report. To report a clinical case of spinal cord infarction due to cocaine use. Spinal Center, IRCCS Fondazione S. Lucia, Rome (Italy). Two days after…”
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Functional Changes of Mentalizing Network in SCA2 Patients: Novel Insights into Understanding the Social Cerebellum
Published in Cerebellum (London, England) (01-04-2020)“…In recent years, increasing evidence of the cerebellar role in social cognition has emerged. The cerebellum has been shown to modulate cortical activity of…”
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Flumazenil therapy for a gabapentin-induced coma: a case report
Published in Journal of medical case reports (09-05-2021)“…Spasticity and neuropathic pain are common in patients after spinal cord injury and negatively affect patients' quality of life. Gabapentin and baclofen are…”
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Severe 5,10‐methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia
Published in European journal of neurology (01-03-2018)“…Background and purpose Juvenile‐ or adult‐onset forms of severe 5,10‐methylenetetrahydrofolate reductase (MTHFR) deficiency manifesting as complicated…”
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DJ‐1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7
Published in Clinical genetics (01-07-2017)“…DJ‐1 mutations are associated to early‐onset Parkinson's disease and accounts for about 1–2% of the genetic forms. The protein is involved in many biological…”
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Neural substrates of motor and cognitive dysfunctions in SCA2 patients: A network based statistics analysis
Published in NeuroImage clinical (01-01-2017)“…Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease characterized by a progressive cerebellar syndrome, which can be…”
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Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56
Published in European journal of paediatric neurology (01-05-2016)“…Abstract We describe a novel sporadic case of SPG56, a rare complicated form of HSP, that expands the clinical and molecular spectrum of the disease, being…”
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Gait training with Achilles ankle exoskeleton in chronic incomplete spinal cord injury subjects
Published in Journal of biological regulators and homeostatic agents (01-09-2020)“…Powered exoskeletons (EXOs) have emerged as potential devices for Spinal Cord Injury (SCI) to support the intervention of physical therapists during therapy…”
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Muscle MRI in female carriers of dystrophinopathy
Published in European journal of neurology (01-09-2012)“…Background and purpose Duchenne muscular dystrophy carriers represent a rare condition that needs to be recognized because of the possible implications for…”
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P593: fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1
Published in Clinical neurophysiology (01-06-2014)Get full text
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Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: A clinical and muscle MRI study
Published in Neuromuscular disorders : NMD (01-05-2013)“…Abstract Here we describe the first case of myotonic dystrophy type 1 (DM1) associated with facio–scapulo–humeral dystrophy (FSHD). From a clinical point of…”
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P.16.10 Muscle MRI of scapular girdle in Facioscapulohumeral muscular dystrophy (FSHD)
Published in Neuromuscular disorders : NMD (01-10-2013)“…To assess the pattern and degree of involvement of scapular girdle muscles in Facioscapulohumeral muscular dystrophy (FSHD). We standardized an MRI protocol…”
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Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS
Published in Clinical genetics (01-10-2014)Get full text
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