Results 101 to 110 of about 307,217 (252)
There is a critical need for accessible neuropsychological testing for basic research and translational studies worldwide. Traditional in-person neuropsychological studies are inherently difficult to conduct because testing requires the recruitment and ...
Sharon Binoy +6 more
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Understanding Friedreich's ataxia via a disease-specific cell model
Wing-sze Tse
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A novel mutation in SACS gene in a family from southern Italy [PDF]
A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC),
BANFI S +10 more
core
Background: The vestibular Romberg test, which assesses the deterioration of balance while standing on rubber foam with closed eyes, is a well-established method in the physical neurological assessment of patients with peripheral vestibulopathy.
Evangelos Anagnostou +6 more
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Friedreich's Ataxia in Northern Italy II. Biochemical Studies in Cultured Cells [PDF]
B. Bertagnolio +5 more
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The cloning of ATM in 1995, the gene responsible for ataxia-telangiectasia, opened a dimension of biological research that is as complex and intriguing to cell biologists as this classic disorder has been to clinicians for four decades. The phenotype is both variable and stereotyped, with significant differences between patients in the rate of ...
openaire +2 more sources
Introduction It has been increasingly recognised that the impact of Ataxia extends beyond physical and motor symptomology. However, it is less known whether self-reported non-motor and ataxia symptom severity varies across ataxias of differing aetiology,
Emma Jenkins, Warren Dunger
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Choline chloride in the treatment of ataxia. [PDF]
I.R. Livingstone, F.L. Mastaglia
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