Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

1996 • 2,667 citations

Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia

1996 • 1,038 citations

Ataxia with isolated vitamin E deficiency is caused by mutations in the α–tocopherol transfer protein

1995 • 561 citations

Clinical features and classification of inherited ataxias.

1993 • 422 citations

Mapping of mutation causing Friedreich's ataxia to human chromosome 9

1988 • 307 citations

Ataxia with Isolated Vitamin E Deficiency: Heterogeneity of Mutations and Phenotypic Variability in a Large Number of Families

1998 • 302 citations

Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping

1993 • 211 citations

Friedreich‐like ataxia with retinitis pigmentosa caused by the His¹⁰¹Gln mutation of the α‐Tocopherol transfer protein gene

1997 • 141 citations

Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families

1993 • 136 citations

Electrophysiological and nerve biopsy: comparative study in Friedreich's ataxia and Friedreich's ataxia phenotype with vitamin E deficiency

1998 • 64 citations

Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families.

1995 • 54 citations