A homozygous loss-of-function mutation in DNAJA3 causes hereditary motor and sensory neuropathy with spastic paraplegia (HMSN type V)
Objective: To identify a genetic cause for hereditary motor and sensory neuropathy with spastic paraplegia (HMSN type V). Background: Hereditary spastic paraplegia (HSP) constitutes a…Modulation of thalamocortical network dynamics via deep brain stimulation in humans with Tourette syndrome
Objective: To (1) investigate the impact on thalamocortical network dynamics in response to low frequency and high frequency deep brain stimulation and (2) uncover the…Gustatory function of patients with essential tremor and its correlation with olfactory and cognitive functions
Objective: We aimed to evaluate gustatory, olfactory and cognitive functions in Essential Tremor patients. Background: Essential tremor (ET) is a pathologically heterogeneous neurodegenerative disorder with…Incidence of waning tremor control in essential tremor patients with deep brain stimulation
Objective: To determine the incidence of loss of tremor control in essential tremor (ET) patients who have undergone ventralis intermedius thalamic nucleus deep brain stimulation…Effect of zonisamide on post-traumatic Holmes’ tremor
Objective: To report a case of a patient with Holmes' tremor following post-traumatic cerebellar lesion, who showed an excellent response to zonisamide. Background: Holmes' tremor…Evaluation of parkinsonism and striatal dopamine transporter loss in patients with spinocerebellar ataxia type 6
Objective: To study whether spinocerebellar ataxia type 6 (SCA6) patients have parkinsonism and striatal dopamine transporter (DAT) loss compared to gender- and age-matched healthy controls.…Acute cerebellar degeneration as the first manifestation of Sjögren syndrome: A case report
Objective: To report a case of acute ataxia with cerebellar atrophy as the presenting feature of Sjögren's syndrome (SS). Background: Cerebellar ataxia is rare in…Cancer in Machado Joseph disease patients – Low frequency as a cause of death
Objective: To compare the 15 years cumulative incidence of cancer (CIC) and the proportion of cancer as a cause of death in symptomatic Spinocerebellar ataxia…Spinocerebellar ataxia 17: First observation in Russia
Objective: To report the detection of the first case of spinocerebellar ataxia 17 in Russian population. Background: Autosomal dominant spinocerebellar ataxias (AD SCAs) are clinically…Communication and language skills in Huntington’s disease
Objective: To characterize the language and communication abilities of HD patients as reflected in tasks involving naming, verbal fluency, working memory and pragmatics. Background: Huntington's…
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