Publications by authors named "Alberto D Rivero"

Article Synopsis
  • Heterozygous pathogenic variants in the HARS gene are linked to Charcot-Marie-Tooth (CMT) type 2W disease, a form of peripheral neuropathy, with at least 60 variants identified across several aminoacyl-tRNA synthetases.
  • A novel HARS variant, c.412T>C; p.Y138H, was discovered in a patient using a CMT gene panel, prompting further investigation into its effects.
  • Through studies using a humanized yeast model and protein analysis, researchers found that the p.Y138H variant caused protein dimerization issues and growth defects, but these problems showed improvement when histidine was supplied, suggesting a possible avenue for clinical trials.
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Objetive: Rituximab (RTX) is a therapeutic option, for patients with myasthenia gravis (MG) not responding to conventional immunosuppressive treatment. In this cohort, we evaluated long-term efficacy of RTX in the treatment of refractory generalized MG.

Methods: A retrospective study was performed in adult patients with refractory generalized MG and at least 24 months of follow-up, between January/2015 and October/2021.

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Introduction/aims: Focal peripheral neuropathies are infrequently seen in pediatric patients. The COVID-19 pandemic has disrupted normal life for many people, including complete lockdowns and school closing for long periods of time in many countries, which prompted children to stay at home. Our aim is to assess whether there has been an increased incidence of focal compressive peripheral neuropathies in the pediatric population during COVID-19-associated lockdown.

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Introduction: Rest and re-emergent tremor (RET) in Parkinson's disease (PD) are known to be markedly variable. The aim of this study is to evaluate the effect of tremor provocation on RET latency and variability.

Methods: We performed a prospective observational study in 21 PD patients with RET.

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Introduction: Re-emergent tremor (RET) is a common form of postural tremor observed in Parkinson's disease (PD) patients. Recent studies have shown that administration of levodopa decreases RET amplitude. However, drug effects on tremor pause duration are less clear.

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