Cohort analysis of novel variants in SPG4 patients and implementation of and studies to identify the pathogenic mechanism caused by splicing mutations.

Introduction: Pure hereditary spastic paraplegia (SPG) type 4 (SPG4) is caused by mutations of gene. This study aimed to analyze variants in SPG4 patients to highlight the occurrence of splicing mutations and combine functional studies to assess the relevance of these variants in the molecular mechanisms of the disease.

Methods: We performed an NGS panel in 105 patients, analysis for splicing mutations, and minigene assay.

Effects of deep brain stimulation of the subthalamic nucleus on patients with Parkinson's disease: a machine-learning voice analysis.

Introduction: Deep brain stimulation of the subthalamic nucleus (STN-DBS) can exert relevant effects on the voice of patients with Parkinson's disease (PD). In this study, we used artificial intelligence to objectively analyze the voices of PD patients with STN-DBS.

Materials And Methods: In a cross-sectional study, we enrolled 108 controls and 101 patients with PD.

The effects of rational emotive behavior therapy and motivational interviewing on emotions, automatic thoughts, and perceived performance of elite female volleyball players.

Objectives: The aim of this study was to examine the effect of Rational Emotive Behavior Therapy intervention alone (REBT-A) or with motivational interviewing (REBT + MI) on the emotions, automatic thoughts, and perceived performance of elite female volleyball players.

Design: and method: Single-case, staggered multiple-baseline AB and ABC designs were adapted in the study. Five female volleyball players participated in the study, of which three players participated in the REBT-A and two players participated in the REBT + MI.

Pain-motor integration in chronic pain: A neurophysiological study.

Objective: Chronic pain may lead to functional changes in several brain regions, including the primary motor cortex (M1). Our neurophysiological study aimed to probe M1 plasticity, through a non-invasive transcranial magnetic stimulation protocol, in a cohort of patients with chronic pain.

Methods: Twenty patients with chronic pain (age ± SD: 62.

Acoustic analysis in stuttering: a machine-learning study.

Background: Stuttering is a childhood-onset neurodevelopmental disorder affecting speech fluency. The diagnosis and clinical management of stuttering is currently based on perceptual examination and clinical scales. Standardized techniques for acoustic analysis have prompted promising results for the objective assessment of dysfluency in people with stuttering (PWS).