Results 191 to 200 of about 33,006 (235)

Clinic vs. daily life gait characteristics in patients with spinocerebellar ataxia. [PDF]

open access: yesFront Digit Health
Shah VV   +10 more
europepmc   +1 more source

Investigation of the large-scale white-matter functional networks in spinocerebellar ataxia type 3. [PDF]

open access: yesQuant Imaging Med Surg
Tang J   +9 more
europepmc   +1 more source

Correction to: Sex Differences in Spinocerebellar Ataxia Type 1: Clinical Presentation and Progression. [PDF]

open access: yesCerebellum
Colucci F   +8 more
europepmc   +1 more source

Prediction of Survival With Long‐Term Disease Progression in Most Common Spinocerebellar Ataxia

open access: yesMovement Disorders, 2019
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

Spinocerebellar ataxias: an update

Current Opinion in Neurology, 2007
Here 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
openaire   +2 more sources

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

open access: yesBrain, 2014
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, 2016
Spinocerebellar 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
openaire   +2 more sources

Spinocerebellar ataxias

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.
openaire   +3 more sources

Speech in spinocerebellar ataxia

Brain and Language, 2013
Spinocerebellar 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
openaire   +2 more sources

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