Adult onset Niemann-Pick type C: 24 month follow-up on miglustat
Objective: To present a rare case of adult onset NPC patient and pointing out varying response of her distinct symptoms on long term follow up…Development of a tool for assessment of embarrassment due to dystonia
Objective: To develop a self assessment scale for quantitative measurement of embarrassment in patients having dystonia. Background: Patients suffering from movement abnormalities like dystonia frequently…Seated balance is impaired in patients with idiopathic cervical dystonia
Objective: To investigate whether seated balance is impaired in patients with idiopathic Cervical Dystonia (CD). Background: Idiopathic CD is a movement disorder in which involuntary…Combined pallidal and thalamic stimulation for multifocal primary dystonia with prominent writers’ cramp
Objective: When a patient presents with both writer's cramp and other dystonic symptoms, it is unclear which target should be chosen. Multifocal DBS is a…A healthy volunteer phase 1 study of RE-024, a potential phosphopantothenate replacement therapy for patients with pantothenate kinase-associated neurodegeneration (PKAN)
Objective: To assess the safety, tolerability, and pharmacokinetics of single oral doses of RE-024 in healthy adult volunteers. Background: PKAN is a rare, autosomal recessive,…Diaphragmatic dystonia in a patient that presents with Meige syndrome and disordered breathing
Objective: To present a case of diaphragmatic dystonia, discuss prevalence, and a practical approach to work up and treatment of this condition. Background: Diaphragmatic dystonia…Investigation of head tremor in cervical dystonia: Novel application of virtual reality head mounted display, the oculus rift
Objective: We aim to characterise tremulous head movements in cervical dystonia during eccentric left- and right-going head rotations. Background: Cervical dystonia is the most common…Development of hyperkinesias after long term pallidal stimulation for dystonia
Objective: Recent reports on the occurrence of bradykinetic symptoms like freezing, postural instability and micrographia after chronic DBS of the GPi in patients with dystonia…RE-024: A potential phosphopantothenate replacement therapy in 2 patients with pantothenate kinase-associated neurodegeneration (PKAN)
Objective: To evaluate the safety and potential efficacy of RE-024 in open treatment of 2 patients with PKAN. Background: PKAN is an autosomal recessive, neurodegenerative…The high prevalence of pain among patients with X linked dystonia parkinsonism
Objective: To evaluate the frequency of pain and its severity among XDP (X linked dystonia parkinsonism) patients. Background: Sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag") is…
- « Previous Page
- 1
- …
- 37
- 38
- 39
- 40
- 41
- 42
- Next Page »