Antonio Trabacca
@Trabacca_MD
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Medico, specialista in Neurologia, mi occupo di Neurologia Pediatrica e Neuroriabilitazione. Direttore UOC di neuroriabilitazione pediatrica
BRINDISI (ITALY)
Joined May 2013
Setting multidisciplinary intervention goals for spinal muscular atrophy patients utilizing the international classification of functioning, disability, and health: a pilot study in a small sample sizes | Acta Neurologica Belgica
link.springer.com
Acta Neurologica Belgica - Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disorder causing progressive motor function loss, respiratory and swallowing impairments, and significant...
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A Two-Step Neurorehabilitation Program Utilizing Extended Reality and Telerehabilitation for Children with Cerebral Palsy: A Pilot Study on Effectiveness, Adherence, and Technical Feasibility https://t.co/kEklBJLIS6
#mdpiapplsci via @Applsci
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Swallowing function in patients with spinal muscular atrophy before and after the introduction of new gene-based th…
pubmed.ncbi.nlm.nih.gov
Pre gene-based therapy studies revealed widespread swallowing dysfunction in SMA. Conversely, the post-treatment era suggests potential improvement. Future research should prioritize identifying...
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Update on Inherited Pediatric Motor Neuron Diseases: Clinical Features and Outcome
pubmed.ncbi.nlm.nih.gov
This narrative clinical review covers the clinical presentation, genetics, molecular features, and pathophysiology of inherited pediatric MNDs.
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De Novo Pathogenic Variant in FBRSL1, Non OMIM Gene Paralogue AUTS2, Causes a Novel Recognizable Syndromic Manifest…
pubmed.ncbi.nlm.nih.gov
FBRSL1, together with FBRS and AUTS2 (Activator of Transcription and Developmental Regulator; OMIM 607270), constitutes a tripartite AUTS2 gene family. AUTS2 and FBRSL1 are evolutionarily more...
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Sitting Postural Management to Prevent Migration Percentage Progression in Non-Ambulatory Children with Cerebral Pa…
pubmed.ncbi.nlm.nih.gov
Overall median MP progression was 1.6 after the first year and 2.5 after the second year. No significant differences were observed between the groups. MP exceeded 40% and 50% in 1.8% and 0% of the...
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Optical coherence tomography sensing: Image post processing for neurop... https://t.co/kCZVo4B8b3
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Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study
pubmed.ncbi.nlm.nih.gov
Duchenne muscular dystrophy (DMD) is a devastating X-linked neuromuscular disorder caused by dystrophin gene deletions (75%), duplications (15-20%) and point mutations (5-10%), a small portion of...
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Exploring variability in cognitive functioning in patients with spinal muscular atrophy: a scoping review
pubmed.ncbi.nlm.nih.gov
The cognitive functioning of individuals with spinal muscular atrophy (SMA) is not well understood, prompting a call for more research to better grasp cognitive involvement in SMA. This study aims to...
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