Genotype-phenotype correlations in a group of 100 patients with typical Friedreich ataxia (FRDA), and in three smaller clinically atypical groups (Arcadian FRDA, late-onset FRDA (LOFA), and FRDA with retained reflexes (FARR)), were studied at the Centre de Recherche Louis-Charles Simard, Service de Genetique Medicale, Service de Neurologie, Hopital Sainte-Justine, Departments of Genetics and Medicine, McGill University, Montreal General Hospital, and other centers
Background: Friedreich ataxia is an autosomal recessive hereditary spinocerebellar disorder, charact...
Absence of lower limb tendon reflexes has been considered an essential diagnostic criterion for Frie...
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by h...
Genetic linkage analyses in 11 patients from 6 families with Friedreich’s ataxia (FA) phenotype, inc...
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion ...
Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encod...
Introducción: La ataxia de Friedreich (FRDA) es una enfermedad autosómica recesiva debida a una muta...
Friedreich ataxia (FRDA) is the most common autosomal recessive ataxia in Caucasian populations. It ...
The effects of genetic understanding on clinical evaluation and therapy of Friedreich ataxia (FRDA) ...
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder commonly caused by l...
Background Friedreich ataxia is an autosomal recessive hereditary spinocerebellar di...
Friedreich ataxia is the commonest of the inherited ataxias, accounting for at least 50 % in most la...
Friedreich’s ataxia (FDRA) is the most common inherited ataxia worldwide, caused by homozygous GAA e...
Atypical Friedreich's ataxia was diagnosed by DNA-analysis in 4 patients, 2 men aged 70 and 67 and 2...
Background: Friedreich ataxia (FRDA) is an autosomal recessive disorder caused by guanine-adenine-ad...
Background: Friedreich ataxia is an autosomal recessive hereditary spinocerebellar disorder, charact...
Absence of lower limb tendon reflexes has been considered an essential diagnostic criterion for Frie...
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by h...
Genetic linkage analyses in 11 patients from 6 families with Friedreich’s ataxia (FA) phenotype, inc...
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion ...
Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encod...
Introducción: La ataxia de Friedreich (FRDA) es una enfermedad autosómica recesiva debida a una muta...
Friedreich ataxia (FRDA) is the most common autosomal recessive ataxia in Caucasian populations. It ...
The effects of genetic understanding on clinical evaluation and therapy of Friedreich ataxia (FRDA) ...
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder commonly caused by l...
Background Friedreich ataxia is an autosomal recessive hereditary spinocerebellar di...
Friedreich ataxia is the commonest of the inherited ataxias, accounting for at least 50 % in most la...
Friedreich’s ataxia (FDRA) is the most common inherited ataxia worldwide, caused by homozygous GAA e...
Atypical Friedreich's ataxia was diagnosed by DNA-analysis in 4 patients, 2 men aged 70 and 67 and 2...
Background: Friedreich ataxia (FRDA) is an autosomal recessive disorder caused by guanine-adenine-ad...
Background: Friedreich ataxia is an autosomal recessive hereditary spinocerebellar disorder, charact...
Absence of lower limb tendon reflexes has been considered an essential diagnostic criterion for Frie...
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by h...