Results 31 to 40 of about 2,535,115 (155)
THE GENETIC BASIS OF PRIMARY ADULT-ONSET DYSTONIA [PDF]
, 2011 Objectives. To identify novel genetic loci associated with primary adult-onset dystonia (AOD) and assess candidate genes from the literature. Secondary aimes.
Esposito, Marcello
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Bupropion-associated movement disorders: A systematic review
Annals of Movement Disorders, 2020 Bupropion (BPP) was originally an antidepressant, but now it is also used for seasonal affective disorder and smoking cessation. The aim of this systematic review was to evaluate the clinical epidemiological profile, pathological mechanisms, and ...
Jamir Pitton Rissardo +1 more
doaj +1 more source
Pediatric Investigation, 2022 Importance The phenotypes of ATP1A3 gene mutations are diverse. Relapsing encephalopathy with cerebellar ataxia and fever‐induced paroxysmal weakness and encephalopathy (FIPWE) are considered non‐classical phenotypes caused by p.Arg756 mutations of ...
Weihua Zhang +9 more
doaj +1 more source
Service-based survey of dystonia in Munich [PDF]
, 2002 We performed a service-based epidemiological study of dystonia in Munich, Germany. Due to favourable referral and treatment patterns in the Munich area, we could provide confident data from dystonia patients seeking botulinum toxin treatment.
Gasser, T. +15 more
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A systematic evaluation of integration free reprogramming methods for deriving clinically relevant patient specific induced pluripotent stem (iPS) cells. [PDF]
PLoS ONE, 2013 A systematic evaluation of three different methods for generating induced pluripotent stem (iPS) cells was performed using the same set of parental cells in our quest to develop a feeder independent and xeno-free method for somatic cell reprogramming ...
Pollyanna A Goh +6 more
doaj +1 more source
Frontiers in Molecular Neuroscience, 2014 Mutations in ATP13A2 lead to Kufor-Rakeb syndrome, a parkinsonism with dementia. ATP13A2 belongs to the P-type transport ATPases, a large family of primary active transporters that exert vital cellular functions.
Sarah evan Veen +5 more
doaj +1 more source
Intermediate Phenotypes of ATP1A3 Mutations: Phenotype–Genotype Correlations
Tremor and Other Hyperkinetic Movements, 2015 Background: ATP1A3-related disorders include rapid-onset dystonia–parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss ...
Pichet Termsarasab +2 more
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Utility of the APE2 Score as a Diagnostic Tool for Autoimmune Encephalitis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To retrospectively evaluate the diagnostic performance of the Antibody Prevalence in Epilepsy and Encephalopathy (APE2) score relative to clinician‐adjudicated autoimmune encephalitis (AE) and the Graus criteria in a tertiary neuroimmunology referral cohort, including antibody‐negative AE.
Bijoya Basu +3 more
wiley +1 more source
Early Globus Pallidus Internus Stimulation in Pediatric Patients With Generalized Primary Dystonia: Long-Term Efficacy and Safety [PDF]
, 2010 Primary generalized dystonia presents mainly at a young age and commonly is severely disabling. The authors report the long-term follow-up (mean, 73 months; range, 50-101 months) of 5 pediatric patients (mean age at surgery 13 years; range, 8-16 years ...
Feddersen, Berend +4 more
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Advanced Science, EarlyView.Magnetomechanical neuromodulation using magnetic nanodiscs enables remote activation of neurons. In a hemiparkinsonian mouse model, alternating magnetic fields actuate the nanodiscs to generate torque that opens mechanosensitive ion channels within the subthalamic nucleus, thereby modulating basal ganglia motor circuitry.
Anouk Wolters +12 more
wiley +1 more source