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Spinocerebellar ataxias - genotype-phenotype correlations in 104 Brazilian families
(Hospital Clinicas, Univ Sao PauloSao PauloBrasil, 2012)
Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families
(Faculdade de Medicina / USP, 2012)
NESSCA Validation and Responsiveness of Several Rating Scales in Spinocerebellar Ataxia Type 2
(Springer Verlag (Germany), 2017)
Características clínicas de 63 pacientes con ataxia
(2018)
Background: Ataxia can be classified as genetic, sporadic or acquired.
Aim: To report the clinical features of a group of patients with ataxia. Material
and Methods: Review of medical records of patients consulting in a ...
Características clínicas de 63 pacientes con ataxia
(2018)
Background: Ataxia can be classified as genetic, sporadic or acquired.
Aim: To report the clinical features of a group of patients with ataxia. Material and Methods: Review of medical records of patients consulting in a ...
Genetic analysis of hereditary ataxias in Peru identifies SCA10 families with incomplete penetrance
(Springer, 2020)
Relative frequency of hereditary ataxias remains unknown in many regions of Latin America. We described the relative frequency in spinocerebellar ataxias (SCA) due to (CAG)n and to (ATTCT)n expansions, as well as Friedreich ...
NESSCA Validation and Responsiveness of Several Rating Scales in Spinocerebellar Ataxia Type 2
(Springer, 2017)
Spinocerebellar ataxia type 2 (SCA2), caused by a CAG expansion (CAGexp) at ATXN2, has a complex clinical picture. While validated ataxia scales are available, comprehensive instruments to measure all SCA2 neurological ...
Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil
(Wiley, 2017)
Background and purpose: Spinocerebellar ataxia type 10 is a neurodegenerative disorder that is due to an expanded ATTCT repeat tract in the ATXN10 gene. Our aim was to describe clinical characteristics and intragenic ...