Impact of sub-acute MPTP exposure on the cerebellum in adult male Balb/c mice
Objective: The objective of the study was to investigate the effect of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) administration on the cerebellum of adult male Balb/c mice Background: Parkinson’s…Protocol for Cerebellar Deep Brain Stimulation in Children and Young Adults with Dyskinetic Cerebral Palsy: Combined N-of-1 trials to Assess Safety and Efficacy
Objective: This study seeks to alleviate severe movement and tone disorders in cerebral palsy (CP) through chronic neuromodulation using deep brain stimulation (DBS), targeting motor…Dandy-Walker syndrome. A case study.
Objective: Present a case study with rare congenital disease for further сreating a database and developing algorithms for the management of such cases in the…White Matter Tractography in Spinocerebellar Ataxia type 1 and 2 in comparison with Healthy Controls
Objective: To assess and quantify microstructural white matter atrophy in brain of spinocerebellar ataxia (SCA) types SCA1 and SCA2 patients in comparison with healthy subjects.…Increased Risk of Suicidal Ideation in Patients with Spinocerebellar Ataxias
Objective: We aimed to investigate if individuals with spinocerebellar ataxias (SCAs) experience increased suicidal ideation and to identify associated factors. Background: Suicidality has been extensively…Mixed Cerebellar Ataxia in a Patient with a Novel FAT2 Gene Variant Associated with SCA45
Objective: We describe a patient with late-onset ataxia, cognitive impairment, and parkinsonism with a novel missense variant in FAT2, a gene implicated in spinocerebellar ataxia…CANVAS and Sleep Disorder: a Prospective Cross-Sectional Study
Objective: Aim in this study is to characterize, for the first time, sleep and its disorders in patients with CANVAS genetically confirmed. Background: Cerebellar ataxia,…Pulmonary Dysfunction in Friedreich’s Ataxia (FRDA)
Objective: We sought to characterize pulmonary function in FRDA and identify disease variables that may contribute to dysfunction. Background: FRDA is a neurodegenerative disease that causes…Opsoclonus after Covid-19 infection
Objective: Describe the first Brazilian case of opsoclonus due to COVID-19 infection Background: Opsoclonus-myoclonus is a rare movement disorder associated with a variety of conditions,…Spinocerebellar Ataxia Type 4: a Novel Polyglycine Disease caused by GGC Repeat Expansion in ZFHX3.
Objective: Identification of the mutation causing SCA4. Background: SCA4 is an autosomal dominant disease, originally described in a large Utah pedigree, characterized by sensory and…
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