Search Results - "Brustia, Francesca"
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Case Report: Ocular paroxysmal non-epileptic events as the presenting sign of celiac disease in children: a case series
Published in Frontiers in pediatrics (30-10-2024)“…Neurologic manifestations may be presenting signs of celiac disease (CD). Pediatric-onset paroxysmal non-epileptic events (PNEEs) are not included among…”
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Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy
Published in Neuromuscular disorders : NMD (01-03-2014)“…Abstract The Performance of Upper Limb was specifically designed to assess upper limb function in Duchenne muscular dystrophy. The aim of this study was to…”
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Acquired Demyelinating Syndromes of the Central Nervous System in Children: The Importance of Regular Follow-up in the First Year After Onset
Published in Journal of child neurology (01-08-2023)“…Aim We reviewed the clinical features of a sample of pediatric acquired demyelinating syndromes with the purpose of determining the appropriate protocol for…”
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Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform
Published in European journal of human genetics : EJHG (01-03-2015)“…We analyzed by next-generation sequencing (NGS) 67 epilepsy genes in 19 patients with different types of either isolated or syndromic epileptic disorders and…”
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Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene
Published in European journal of medical genetics (01-10-2013)“…Abstract We present a patient affected by Dravet syndrome. Thorough analysis of genes that might be involved in the pathogenesis of such phenotype with both…”
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The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys
Published in PLoS currents (07-10-2014)“…The Performance of Upper Limb (PUL) test was specifically developed for the assessment of upper limbs in Duchenne muscular dystrophy (DMD). The first published…”
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Satisfaction with antiepileptic drugs in children and adolescents with newly diagnosed and chronic epilepsy
Published in Epilepsy research (01-06-2012)“…Summary Purpose To assess incidence, indicators and outcome of satisfaction with antiepileptic drugs in children. Methods Multicenter, observational, open,…”
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