Phenotypic Spectrum of Movement Disorders in TBC1D24 Gene Variants: A Case Series
Objective: To report the phenotypic spectrum of movement disorders in 5 pediatric patients with TBC1D24 gene variants and provide accompanying video. Background: The TBC1D24 gene…Effectiveness of Intensive Speech Treatment for Friedreich’s Ataxia
Objective: 1. Test feasibility of providing online intensive speech treatment to people with Friedreich’s Ataxia (FA)2. Compare benefits of two treatment targets (vocal loudness-LSVT LOUD;…Understanding the Challenges of Treating and Living with Essential Tremor: Results from a Lived-Experience Focus Group
Objective: To understand the experience of living with essential tremor (ET), we ran a lived-experience focus group that examined impact of tremor of daily life,…Clinical and epidemiological characterization of patients with cerebellar ataxia in a reference center in Northeastern Brazil
Objective: To describe the epidemiological and clinical characteristics of patients with cerebellar ataxia in a Movement Disorders outpatient clinic at a public reference center in…Genetic Ataxias in Argentina
Objective: To determine the occurrence and frequency of genetic ataxias in Argentina. Background: Genetic ataxias comprise hundreds of disorders with significant phenotypic, genetic, and epidemiological…Spinocerebellar Ataxia 15: The first reported case of SCA15 in Asia secondary to ITPR1 gene mutation
Objective: The objective of this paper is to present the clinical, genetic findings, and inheritance pattern of a family with SCA. Background: Spinocerebellar Ataxia (SCA)…Co-occurrence of Spinal Muscular Atrophy Type 2 and Huntington’s Disease
Objective: To describe a unique case of co-occurring SMA2 and HD in a patient. Background: Huntington’s Disease (HD) is an autosomal dominant neurodegenerative disorder caused…Huntington’s Disease: Overview from 20 Years of a Single-Center Experience
Objective: This study evaluates patient data from individuals with Huntington’s disease who attended our single tertiary center. Background: Huntington’s disease is an inherited neurodegenerative disorder…Real-World Clinical and Safety Outcomes from a Prospective, Multicenter Deep Brain Stimulation Registry of Essential Tremor Patients
Objective: Here, we evaluate ongoing registry outcomes derived from patients implanted with directional Deep Brain Stimulation (DBS) systems with Multiple Independent Current Control (MICC) technology…Beyond “benign”, tremor and epilepsy in FAME3-A New Family Report with Progressive Course and Cognitive Impairment
Objective: To report a family with Familial Cortical Myoclonic Tremor with Epilepsy(FAME) type 3 diagnosed through long-read sequencing and presenting a progressive disease course and…
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