trinucleotide repeat in 1A-gene of a calcium channel in a certain patient and if a genomic DNA contains such large-sized sequences against a control these patients are considered to be referred to the risk group for the development of autosomal dominant spinal and cerebellar ataxia of type 6....
Aka:Finger-Nose-Finger Test,Finger-Nose-Finger,Finger-Nose Ataxia,Finger-To-Finger Test,Point-To-Point Test See Also Page Contents Cerebellar Function Test Heel Knee Shin Test Romberg Test Rapid Alternating Movements Dysdiadochokinesia advertisement ...
Twitter Google Share on Facebook Acetest [as´ĕ-test] trademark for a reagent tablet containingsodium nitroprusside, aminoacetic acid,dibasic sodium phosphate, andlactose, turning a purple color in the presence ofketone bodiesin urine, blood, plasma, or serum; the intensity of the color reac...
Gait in patients with cerebellar ataxia. The gait pattern in 10 patients with cerebellar degenerations was studied and the results were compared with 10 matched normal subjects, seeking the princi... S Palliyath,M Hallett,SL Thomas,... - 《Movement Disorders Official Journal of the Movement ...
"We correctly diagnosed all patients with conditions that were already known, including Huntington's disease, fragile X syndrome, hereditary cerebellar ataxias, myotonic dystrophies, myoclonic epilepsies,motor neuron diseaseand more," says Dr. Ira Deveson, Head of Genomics Technologies at the Garvan...
Mental Retardation and Epilepsy in Patients With Isolated Cerebellar Hypoplasia. Congenital nonprogressive cerebellar ataxia includes a complex group of disorders with heterogeneous phenotypic and etiopathogenetic characteristics. Despi... Ventura,Patrizia,Presicci,... - 《Journal of Child Neurology》 被引量...
Later, this was described as cerebellar ataxia and bilateral vestibulopathy (CABV) syndrome with a very characteristic clinical sign-positive visually enhanced vestibulo-ocular reflex test (VVOR) [2]. CENTRAL AND PERIPHERAL VESTIBULAR SIGNS SIMULTANEOUSLY PRESENT IN A PATIENT WITH INSTABILITY--A CASE...
“We correctly diagnosed all patients with conditions that were already known, including Huntington’s disease, fragile X syndrome, hereditary cerebellar ataxias, myotonic dystrophies, myoclonic epilepsies, motor neuron disease, and more,” says Dr. Ira Deveson, Head of Genomics Technologies at t...
Cerebellar ataxia is one of the most disabling symptoms of multiple sclerosis (MS) and also one of the least responsive to pharmacotherapy. However, cerebe... R Sandyk - 《International Journal of Neuroscience》 被引量: 41发表: 1996年 Target board test for the quantification of ataxia in tre...
For example, are mouse models of anxiety, ataxia, or cognitive dysfunction being tested? We have examined cognitive behavior in mouse models of Fragile X syndrome (Yan et al., 2004); ADHD (Brown et al., 2005, 2007b); and Alzheimer's disease (Brown et al., 2007a,b; O'Leary and ...