Disorder of bulk lipid transfer? Lipid composition and distribution in cellular models of VPS13A disease
Objective: To study the overall lipid composition and distribution in red blood cells (RBCs) and neurons derived from VPS13A disease patients, a neurodegenerative disorder associated…Chorea following SARS-CoV-2 infection and vaccination: a systematic review
Objective: We aimed to investigate and compare data on chorea following SARS-CoV-2 infection and vaccination to provide an extensive perspective on this pathology and to…Chorea as a clinical manifestation in adult-onset of metachromatic leukodystrophy
Objective: Here we want to present a patient with chorea as part of clinical manifestation of adult onset of metachromatic leukodystrophy. Background: Metachromatic leukodystrophy is…Huntington disease-like: an atypical presentation of Niemann-Pick type C.
Objective: Report a case of adult-onset Niemann-Pick disease type C (NPC) with Huntington disease-like (HDL) phenotype. Background: NPC is a neurodegenerative autosomal recessive lysosomal storage…Movement disorders (MD) after stroke in childhood
Objective: The aim of this study is to characterize child population with MD as manifestation of both ischemic and hemorrhagic stroke. Background: Many different types…Contemporary study of the difficulties of late diagnostics in patients with Huntington’s disease in Uzbekistan
Objective: To identify the causes that lead to late diagnosis of Huntington's disease. Background: Huntington's disease is a rare, progressive, and fatal autosomal dominant neurodegenerative…Chorea Severity Change Over Time in Huntington Disease and by Huntington Disease Stage
Objective: To describe the evolution of chorea severity over time in individuals with Huntington disease (HD) stratified by Total Functional Capacity (TFC). Background: Chorea is…An unusual cause of choreoathetosis: PRES and Goodpasture’s Syndrome
Objective: Our aim is to shed light on an usual cause of choreoathetosis in a medically complex case. Background: Goodpasture’s syndrome(GBS) is a rare autoimmune…Critical Bilateral Carotid Disease presenting as Hemichorea
Objective: To present a case of combined contralateral internal carotid artery (ICA) occlusion and ipsilateral ICA critical stenosis presenting with isolated hemichorea. Background: Hemichorea consists…AN ATYPICAL ONSET OF PRIMARY FAMILIAL BRAIN CALCIFICATION: A CASE REPORT.
Objective: To describe a case of PFBC with atypical clinical onset. Background: Primary Familial Brain Calcification (PFBC), also known as Fahr's Disease, is a rare…
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