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Spinocerebellar ataxia type 10 - A review.
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant inherited ataxia caused by an expanded ATTCT pentanucleotide repeat in intron 9 of the ATXN10 gene, on chromosome 22q13.3. SCA10Expand
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CT scan findings in mild head trauma: a series of 2,000 patients.
The present study describes the cranial computed tomography (CT) scan findings of 2,000 cases of mild head trauma (HT) in Curitiba, Southern Brazil. The mean age of the entire series was 30.8 +/-19Expand
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Multiple sclerosis: report on 200 cases from Curitiba, Southern Brazil and comparison with other Brazilian series.
We reviewed the clinical and laboratory findings of 200 patients in Curitiba, Southern Brazil (25 degrees 25'40" S; 49 degrees 16'23" W-GR), with multiple sclerosis (MS)according to Poser's criteria.Expand
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Esthesioneuroblastoma with intracranial extension.
The authors present five cases of olfactory neuroblastoma with intracranial extension operated on in the Department of Neurosurgery in collaboration with otorhinolaryngologists. This tumor is mostExpand
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Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients.
Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominantExpand
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Ataxia-telangiectasia — A historical review and a proposal for a new designation: ATM syndrome
The authors review ataxia telangiectasia, emphasizing historical aspects, genetic discoveries, and the clinical presentations of the classical and atypical forms. In fact, ataxia telangiectasiaExpand
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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 anExpand
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Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder caused by an ATTCT repeat intronic expansion in the SCA10 gene. SCA 10 has been reported in Mexican, Brazilian, ArgentineanExpand
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Coma scales: a historical review.
OBJECTIVE To describe the most important coma scales developed in the last fifty years. METHOD A review of the literature between 1969 and 2009 in the Medline and Scielo databases was carried outExpand
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No correlation was observed between vitamin D levels and disability of patients with multiple sclerosis between latitudes 18° and 30° South.
Objective Vitamin D has taken center stage in research and treatment of multiple sclerosis (MS). The objective of the present study was to assess the serum vitamin D levels of a large population ofExpand
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