Results 201 to 210 of about 42,506 (235)

Spinocerebellar ataxia type 11

2012
Clinical characteristics Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia and abnormal eye signs (jerky pursuit, horizontal and vertical nystagmus). Pyramidal features are seen on occasion. Peripheral neuropathy and dystonia are rare.
P, Giunti, H, Houlden, C, Gardner-Thorpe, P F, Worth, J, Johnson, D A, Hilton, T, Revesz, M B, Davis, N W, Wood   +8 more
openaire   +2 more sources

Spinocerebellar ataxia type 20

2012
Spinocerebellar ataxia type 20 (SCA20), first reported in 2004, is a slowly progressive dominantly inherited disorder so far reported in a single Anglo-Celtic family from Australia. It is characterized by dentate calcification from an early stage of the illness. Dysarthria without ataxia is the first symptom in the majority - an unusual feature amongst
Elsdon, Storey, R J McKinlay, Gardner
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Spinocerebellar ataxia type 14

2012
SCA14 is an autosomal dominant hereditary cerebellar ataxia that usually has an onset in early to mid adult life, with slow progression and normal lifespan. Although generally an uncomplicated cerebellar ataxia with gait imbalance, dysarthria, and nystagmus, there is occasionally sensory loss, hyperactive tendon reflexes, cognitive decline, or ...
Dong-Hui, Chen, Wendy H, Raskind, Thomas D, Bird   +2 more
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Spinocerebellar ataxia type 15

2012
Spinocerebellar ataxia type 15 (SCA15), first described in 2001, is a slowly progressive, relatively pure dominantly inherited ataxia. Six pedigrees have been reported to date, in Anglo-Celtic and Japanese populations. Other than notably slow progression, its main distinguishing characteristic is tremor, often affecting the head, which is seen in about
Elsdon, Storey, R J McKinlay, Gardner
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Spinocerebellar ataxia type 10

2012
Clinical characteristics Spinocerebellar ataxia type 10 (SCA10) is characterized by slowly progressive cerebellar ataxia that usually starts as poor balance and unsteady gait, followed by upper-limb ataxia, scanning dysarthria, and dysphagia. Abnormal tracking eye movements are common.
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Other spinocerebellar ataxias

2012
Leslie J, Cloud, George, Wilmot
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Spinocerebellar ataxia type 7

2012
Spinocerebellar ataxia type 7 (SCA7) is associated with progressive blindness, dominant transmission, and marked anticipation. SCA7 represents one of the polyglutamine expansion diseases with increase of CAG repeats. The gene maps to chromosome 3p12-p21.1. Normal values of CAG repeats range from 4 to 18.
openaire   +3 more sources

Antisense oligonucleotide therapy for spinocerebellar ataxia type 2

Nature, 2017
Daniel R Scoles, Sharan Paul, Warunee Dansithong   +2 more
exaly  

Vascular endothelial growth factor ameliorates the ataxic phenotype in a mouse model of spinocerebellar ataxia type 1

Nature Medicine, 2011
Marija Cvetanovic, Puneet Opal
exaly  

Spinocerebellar ataxia

2023
openaire   +1 more source