Results 191 to 200 of about 33,006 (235)
Clinic vs. daily life gait characteristics in patients with spinocerebellar ataxia. [PDF]
Shah VV +10 more
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Investigation of the large-scale white-matter functional networks in spinocerebellar ataxia type 3. [PDF]
Tang J +9 more
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Unmasking cerebellar disease: functional neurologic disorder as a precursor to spinocerebellar ataxia type 8. [PDF]
Jimsheleishvili S +2 more
europepmc +1 more source
Correction to: Sex Differences in Spinocerebellar Ataxia Type 1: Clinical Presentation and Progression. [PDF]
Colucci F +8 more
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Prediction of Survival With Long‐Term Disease Progression in Most Common Spinocerebellar Ataxia
Background: Spinocerebellar ataxias are rare dominantly inherited neurodegenerative diseases that lead to severe disability and premature death. Objective: To quantify the impact of disease progression measured by the Scale for the Assessment and Rating ...
Alhassane Diallo +2 more
exaly +2 more sources
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Spinocerebellar ataxias: an update
Current Opinion in Neurology, 2007Here we discuss recent advances regarding the molecular genetic basis of dominantly inherited ataxias.Important recent observations include insights into the mechanisms by which expanded polyglutamine causes cerebellar degeneration; new findings regarding how noncoding expansions may cause disease; the discovery that conventional (i.e.
Bing-wen, Soong, Henry L, Paulson
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Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes
Polyglutamine-coding (CAG)n repeat expansions in seven different genes cause spinocerebellar ataxias. Although the size of the expansion is negatively correlated with age at onset, it accounts for only 50-70% of its variability.
Sophie Tezenas Du Montcel +2 more
exaly +2 more sources
The electrophysiology of spinocerebellar ataxias
Neurophysiologie Clinique/Clinical Neurophysiology, 2016Spinocerebellar Ataxias (SCAs) are a group of autosomal dominantly inherited neurodegenerative diseases, involving the cerebellum and the brainstem. Genetic testing is the most important method of diagnosis. Nowadays, nearly 40 types of SCAs have been identified by genetic analysis.
Lipin, Liang, Tao, Chen, Yan, Wu
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Neurological Sciences, 2008
Conventional MRI in patients presenting with progressive ataxia demonstrates the three main patterns of macroscopic damage, namely spinal atrophy, olivopontocerebellar atrophy and cortical cerebellar atrophy. Moreover it contributes to the diagnosis of fragile-X tremor ataxia syndrome and siderosis of the CNS.
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Conventional MRI in patients presenting with progressive ataxia demonstrates the three main patterns of macroscopic damage, namely spinal atrophy, olivopontocerebellar atrophy and cortical cerebellar atrophy. Moreover it contributes to the diagnosis of fragile-X tremor ataxia syndrome and siderosis of the CNS.
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Speech in spinocerebellar ataxia
Brain and Language, 2013Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal dominant cerebellar ataxias clinically characterized by progressive ataxia, dysarthria and a range of other concomitant neurological symptoms. Only a few studies include detailed characterization of speech symptoms in SCA.
Ellika, Schalling, Lena, Hartelius
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