Results 141 to 150 of about 28,732 (186)

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

Front Digit Health
Shah VV, Muzyka D, Jagodinsky A, Casey H, McNames J, El-Gohary M, Sowalsky K, Safarpour D, Carlson-Kuhta P, Horak FB, Gomez CM.   +10 more
europepmc   +1 more source

Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 2-Robust Tools for Direct and Indirect Detection of the ATXN2 CAG Repeat Expansion. [PDF]

Int J Mol Sci
Asherah N, Lian M, Tan AS, Taguchi R, Chua P, Liu S, Lee CG, Chong SS.   +7 more
europepmc   +1 more source

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

Quant Imaging Med Surg
Tang J, Li S, Liao W, Xing W, Li J, Song B, Yang F, Zhou G, Meng L, Wang D.   +9 more
europepmc   +1 more source

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

Cerebellum
Colucci F, Stefanelli S, Contaldi E, Gozzi A, Pugliatti M, Antenucci P, Capone JG, Gragnaniello D, Sensi M.   +8 more
europepmc   +1 more source

Spinocerebellar ataxia [PDF]

Nature Reviews Disease Primers, 2019
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance and coordination accompanied by slurred speech; onset is most often in adult life. Genetically, SCAs are grouped as repeat expansion SCAs, such as SCA3/Machado-Joseph disease
Thomas Klockgether, Henry Paulson, Caterina Mariotti   +2 more
exaly   +8 more sources

Some of the next articles are maybe not open access.

Related searches:

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

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

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

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

Spinocerebellar ataxias

2018
There are over 40 autosomal dominant spinocerebellar ataxias (SCAs) now identified. In this chapter we delineate the phenotypes of SCAs 1-44 and dentatorubral-pallidoluysian atrophy (DRPLA) and highlight the clinical and genetic features of the well characterised SCAs in detail in the main section of the chapter, along with their frequency and age at ...
Bing-Wen, Soong, Patrick J, Morrison
openaire   +2 more sources