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Adult onset sporadic ataxias: a diagnostic challenge
(Academia Brasileira de Neurologia - ABNEURO, 2014-03-01)
Patients with adult onset non-familial progressive ataxia are classified in sporadic ataxia group. There are several disease categories that may manifest with sporadic ataxia: toxic causes, immune-mediated ataxias, vitamin ...
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 ...
Impacto psicológico de la Ataxia de Friedreich, en pacientes y familiares
(Ediciones Universidad Simón BolívarFacultad de Ciencias de la Salud, 2021)
El termino ataxia de Friedrich (FRDA) normalmente se caracteriza por una ataxia lentamente progresiva con inicio antes de la edad de 25 años, normalmente está asociada con reflejos del tendón deprimidos, disartria, respuestas ...
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, ...
ATM down-regulation is associated with poor prognosis in sporadic breast carcinomas
(Oxford University Press, 2014-01-01)
Background: Ataxia telangiectasia-mutated (ATM) gene downexpression has been reported in sporadic breast carcinomas (BC); however, the prognostic value and mechanisms of ATM deregulation remain unclear.Patients and methods: ...
ATM down-regulation is associated with poor prognosis in sporadic breast carcinomas
(Oxford University Press, 2014)
Neuroimaging Of Ataxias
(Humana Press Inc., 2013)
Downregulation of ATM Gene and Protein Expression in Canine Mammary Tumors
(2016-11-01)
The ataxia telangiectasia mutated (ATM) gene encodes a protein associated with DNA damage repair and maintenance of genomic integrity. In women, ATM transcript and protein downregulation have been reported in sporadic ...