Fast paced gait may be more discriminating than dual tasking for detecting severity of gait and turn deficits in FXTAS
Objective: Determine the impact of dual task (DT) cognitive interference and fast paced walking on gait and the relationship between cognition, gait and falls in…Rare ADCY6 variants in two families with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS)
Objective: To reveal a genetic cause for a syndrome of combined cerebellar ataxia, neuropathy and vestibular areflexia (CANVAS). Background: CANVAS is a clinically defined neurological…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…
- « Previous Page
- 1
- …
- 17
- 18
- 19
- 20
- 21
- …
- 177
- Next Page »