Buscar
Mostrando ítems 1-10 de 45
Spinocerebellar ataxias - genotype-phenotype correlations in 104 Brazilian families
(Hospital Clinicas, Univ Sao PauloSao PauloBrasil, 2012)
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 ...
Movement Disorders in Autosomal Dominant Cerebellar Ataxias: A Systematic Review
(John Wiley & Sons Inc, 2014-09)
Autosomal dominant cerebellar ataxias (ADCAs) are clinically heterogeneous disorders classified according to genetic subtype and collectively known as SCAs. In a few SCAs, movement disorders can be the most frequent ...
Autosomal dominant cerebellar ataxias: a systematic review of clinical features
(Wiley, 2014-02)
BACKGROUND AND PURPOSE: To assess, through systematic review, distinctive or common clinical signs of autosomal dominant cerebellar ataxias (ADCAs), also referred to as spinocerebellar ataxias (SCAs) in genetic nomenclature. ...
Olfactory impairment in familial ataxias
(Bmj Publishing GroupLondon, 2012)
Sleep disorders in cerebellar ataxias
(Academia Brasileira de Neurologia - ABNEURO, 2011-04-01)
Cerebellar ataxias comprise a wide range of etiologies leading to central nervous system-related motor and non-motor symptoms. Recently, a large body of evidence has demonstrated a high frequency of non-motor manifestations ...
A Novel de novo Exon 21 DNMT1 Mutation Causes Cerebellar Ataxia, Deafness, and Narcolepsy in a Brazilian Patient
(Amer Acad Sleep Medicine, 2013-08-01)
Study Objectives: Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is caused by DNMT1 mutations. Diagnosing the syndrome can be difficult, as all clinical features may not be present at onset, ...
Muscle excitability abnormalities in Machado-Joseph disease
(Amer Medical AssocChicagoEUA, 2008)