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Analysis of the DMPK gene CTG repeat in healthy Brazilians
(Sociedade Brasileira de Genética, 2019)
Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype
(Assoc Arquivos Neuro- PsiquiatriaSao Paulo SpBrasil, 2011)
CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)
(Oxford Univ PressOxfordInglaterra, 2000)
A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients
(2016-04)
Somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 is age-dependent, tissuespecific and expansion-biased, contributing toward the tissue-specificity and progressive nature of the symptoms. Previously, ...
A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients
(2016-04)
Somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 is age-dependent, tissuespecific and expansion-biased, contributing toward the tissue-specificity and progressive nature of the symptoms. Previously, ...
Clinical and Molecular Features of Late Onset Huntington Disease in a Peruvian Cohort
(IOS Press, 2015)
Background: Late onset cases of Huntington disease (HD), with onset ≥60 years, account for up to 20% of HD cases worldwide. Clinical features include mild motor dysfunction with slow progression and cognitive impairment, ...
Muscle excitability abnormalities in Machado-Joseph disease
(Amer Medical AssocChicagoEUA, 2008)
Clinical and molecular characteristics of a Brazilian family with spinocerebellar ataxia type 1Características clínicas e moleculares de uma família Brasileira com ataxia espinocerebelar tipo 1
(Academia Brasileira de Neurologia - ABNEURO, 1996)