Cognitive impairments in children with tic disorders and Tourette syndrome
Objective: The study of cognitive impairment was a combination of neurological and electroencephalographic techniques that allowed us to objectify pathogenetic features of Tourettes syndrome and…Digitizing tablet and Fahn-Tolosa-Marín tremor ratings have comparable minimum detectable change
Objective: To determine if a digitizing tablet is better than Fahn-Tolosa-Marín part B (FTM-B) ratings in detecting changes in essential tremor (ET) that exceed random…Insulin dependent diabetes and hand tremor
Objective: Tremor is the most common type of involuntary movement. Clinically tremor can be classified into physiological, essential, dystonic, Parkinsonian and psychogenic. Risk for hand…MRI guided high-intensity focused ultrasond for the treatment of essential tremor and Parkinson’s disease: Clinical outcome and radiological findings of unilateral thalamotomy
Objective: To report our clinical experience in the treatment of essential (ET) and Parkinson's disease (PD) tremor with MRI guided High-Intensity Focused Ultrasound (MRgHIFU). Background:…Eye movement abnormalities in essential tremor and other neurodegenerative diseases (Parkinson’s disease, spino-cerebellar ataxia, Huntington disease)
Objective: To evaluate eye movement abnormalities in ET patients in comparison with matched according to age and gender controls and patients with other neurodegenerative disease…Sporadic cerebellar ataxia associated with hypogonadotropic hypogonadism and PNPLA6 gene mutation. Case report in a Brazilian patient
Objective: The aim of this study is to describe a case report of a Brazilian patient with sporadic cerebellar ataxia, associated with hypogonadotropic hypogonadism, and…Repeat size and X-inactivation in the clinical phenotype of fragile X premutation carrier sisters: A familial case series
Objective: To describe the role of X-inactivation in clinically discordant phenotypes in sisters with a fragile X mental retardation 1 (FMR1) gene premutation but varying…European pediatric normative values for the scale for assessment and rating of ataxia (SARA)
Objective: To obtain international age-related normative values for the SARA in healthy European children. Background: The Scale for Assessment and Rating of Ataxia (SARA) is…Phenomenology and therapeutic strategies in a series of patients with chorea-acanthocytosis
Objective: Description of the epidemiology, phenotype and ancillary test results in a series of patients with chorea-acanthocytosis (ChAc). Analysis of the therapeutic strategies and functional…Progression of motor subtypes in Huntington’s disease: A six-year follow-up
Objective: To investigate the course of motor symptoms in Huntington's disease (HD) and their relationship with cognitive- and general functioning over time. Background: The motor…
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