mGluR1 antibodies encephalitis: A rare cause of reversible ataxia and myoclonus syndrome
Objective: We wanted to report the case of a patient with severe subacute cerebellar ataxia related to mGluR1-antibodies with a clear improvement after immunomodulator treatment.…Choreaathetosis as clinical manifestation of Fahr Syndrome inTurner Syndrome Patient
Objective: To report choreaathetosis as a clinical manifestation of Fahrs syndrome in Turner Syndrome patient Background: The prevalence of fahr syndrme is 1/1000.000 people. Clinical…Huntington’s Disease in Turkey: A Bird’s Eye Review of the Literature
Objective: This study is aimed to make literature review of international/national publications and conference papers on HD from Turkey, aiming to reflect at least partially…Phenotypic Heterogeneity and Variability of Nigrostriatal Dopaminergic Function in a Dopa-Responsive Dystonia
Objective: To evaluate presynaptic nigrostriatal dopaminergic function in a Dopa-responsive dystonia (DRD) family with guanosine triphosphate cyclohydrolase 1 (GCH-1) mutation. Background: Mutation of GCH-1 located…Higher self-rated obsessive-compulsion in functional compared with organic dystonia
Objective: To evaluate obsessive-compulsive symptomatology in functional and organic dystonia Background: Case-control studies have reported elevated rates of obsessive-compulsion in genetic (DYT11 and DYT5) and…Zolpidem effect in task specific dystonia – clinical and neurophysiological study
Objective: We conducted a double blind, placebo-controlled crossover study to examine clinical and neurophysiological effect of zolpidem in patients with task specific dystonia. Background: Task…Movement and postural control in focal dystonia subjects measured using surface electromyography
Objective: To explore the difference in muscle activation during a postural versus movement control task in patients with focal dystonia. Background: Co-contraction of agonist and…Disease Modeling of Lesch-Nyhan Disease Using Induced Pluripotent Stem Cells
Objective: To create a resource of induced pluripotent stem cells (iPSCs) as models for exploring mechanisms of pathogenesis in Lesch-Nyhan disease (LND). Background: LND is…Prodromal features of Parkinson’s disease in women
Objective: To identify how prodromal features interact to determine Parkinson’s disease (PD) risk in women. Background: The neuronal loss that leads to PD progresses insidiously…Tendency towards being a “Morning person” increases risk of Parkinson’s disease: evidence from Mendelian randomisation
Objective: To explore the causal relationship between circadian rhythm and Parkinson's disease (PD), and coffee consumption and PD, using Mendelian randomisation (MR). Background: Circadian rhythm…
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