Spinocerebellar ataxias – genotype-phenotype correlations in 104 Brazilian families
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چکیده
منابع مشابه
Spinocerebellar ataxias – genotype-phenotype correlations in 104 Brazilian families
OBJECTIVE Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene. The aim of the current study was to evaluate a large group of patients from 104 Brazilian families with spinocerebellar ataxias. METHODS We studied 150 patients from 104 families with spino...
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UNLABELLED Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia. OBJECTIVE To carry out a clinical and genetic...
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ژورنال
عنوان ژورنال: Clinics
سال: 2012
ISSN: 1807-5932
DOI: 10.6061/clinics/2012(05)07