Add to ORKGFriedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene. We have investigated this mutation in five Brazilian patients: four with typical FRDA findings and one patient with atypical manifestations, who was considered to have some other form of cerebellar ataxia with retained reflexes. The GAA expansion was detected in all these patients. The confirmation of FRDA diagnosis in the atypical case may be pointing out, as in other reports, that clinical spectrum of Friedreich's ataxia is broader than previously recognised and includes cases with intact tendon reflexes.A ataxia de Friedreich (FRDA) é a mais frequente das...
Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encod...
The most common mutation causing Friedreich ataxia (FRDA), an autosomal recessive neurodegenerative ...
Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encod...
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by h...
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by h...
INTRODUCTION: Friedreich's ataxia is a neurodegenerative disorder whose clinical diagnostic criteria...
Friedreich ataxia (FRDA) is the most common autosomal recessive ataxia in Caucasian populations. It ...
Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central...
Introducción: La ataxia de Friedreich (FRDA) es una enfermedad autosómica recesiva debida a una muta...
Introduction: Friedreich’s ataxia is a neurodegenerative disorder whose clinical diagnostic criteria...
Friedreich ataxia (FRDA) is a rare autosomal recessive hereditary disorder caused by expansion of a ...
More than 140 years after the first description of Friedreich ataxia, autosomal recessive ataxias ha...
We describe three siblings from an Italian family affected by an autosomal recessive spinocerebellar...
We describe three siblings from an Italian family affected by an autosomal recessive spinocerebellar...
We describe three siblings from an Italian family affected by an autosomal recessive spinocerebellar...
Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encod...
The most common mutation causing Friedreich ataxia (FRDA), an autosomal recessive neurodegenerative ...
Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encod...
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by h...
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by h...
INTRODUCTION: Friedreich's ataxia is a neurodegenerative disorder whose clinical diagnostic criteria...
Friedreich ataxia (FRDA) is the most common autosomal recessive ataxia in Caucasian populations. It ...
Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central...
Introducción: La ataxia de Friedreich (FRDA) es una enfermedad autosómica recesiva debida a una muta...
Introduction: Friedreich’s ataxia is a neurodegenerative disorder whose clinical diagnostic criteria...
Friedreich ataxia (FRDA) is a rare autosomal recessive hereditary disorder caused by expansion of a ...
More than 140 years after the first description of Friedreich ataxia, autosomal recessive ataxias ha...
We describe three siblings from an Italian family affected by an autosomal recessive spinocerebellar...
We describe three siblings from an Italian family affected by an autosomal recessive spinocerebellar...
We describe three siblings from an Italian family affected by an autosomal recessive spinocerebellar...
Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encod...
The most common mutation causing Friedreich ataxia (FRDA), an autosomal recessive neurodegenerative ...
Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encod...