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Mostrando ítems 11-20 de 170
Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil
(Wiley Online Library, 2023)
Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia
(Academia Brasileira de Neurologia - ABNEURO, 2012-08-01)
Machado-Joseph disease is an autosomal dominant inherited disorder of Azorean ancestry firstly described in 1972. Since then, several Brazilian researchers have studied clinical and genetic issues related to the disease. ...
The progression rate of spinocerebellar ataxia type 2 changes with stage of disease
(BioMed Central, 2018)
Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patientsFreqüência das mutações que causam ataxia espinocerebelar (SCA1, SCA2, MJD/SCA3 e DRPLA) em um grupo numeroso de pacientes Brasileiros
(Academia Brasileira de Neurologia - ABNEURO, 1997)
Phonoarticulation In Spinocerebellar Ataxia Type 3
(SpringerNew York, 2017)
Patients with autosomal dominant spinocerebellar ataxia have more risk of falls, important balance impairment, and decreased ability to function
(Academia Brasileira de Neurologia - ABNEURO, 2013-08-01)
OBJECTIVES: To assess balance and ability to function in patients with spinocerebellar ataxia. METHODS: A total of 44 patients with different spinocerebellar ataxia types 1, 2, 3, and 6 were evaluated using the Tinetti ...
Ataxia espinocerebelar: análise perceptivo-auditiva e acústica da fala em três casos
(Pró-Fono Produtos Especializados para Fonoaudiologia Ltda., 2009-06-01)
BACKGROUND: dysarthrias are commonly found in patients with spinocerebellar ataxias (SCA). AIM: to characterize perceptual and acoustic features of speech in three patients with spinocerebellar ataxia and to verify the ...
ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population
(Springer, 2019)
Spinocerebellar ataxia type 10 (SCA10) is a repeat expansion disease occurring mostly in Latin America, suggesting that the mutation spread with the peopling of the Americas, or that Amerindian populations, have a higher ...
Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations
(Wiley-liss, div John Wiley & Sons Inc., 2021-02)
Background: We assessed the clinimetric properties of ataxia rating scales and functional tests, and made recommendations regarding their use. Methods: A systematic literature search was conducted to identify the instruments ...