IDENTIFICATION AND CLONING OF THE GENE INVOLVED IN FRIEDREICH’S ATAXIA
- 2 Anni 1995/1997
- 102.991€ Totale Fondi
Descrizione non disponibile
Pubblicazioni Scientifiche
- 1997 HUMAN MOLECULAR GENETICS
The friedreich ataxia GAA triplet repeat: Premutation and normal alleles
- 1996 NEUROPEDIATRICS
Childhood onset of Friedreich ataxia: A clinical and genetic study of 36 cases
- 1997 AMERICAN JOURNAL OF HUMAN GENETICS
The effect of parental gender on the GAA dynamic mutation in the FRDA gene
- 1996 SCIENCE
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
- 1997 NATURE GENETICS
Frataxin fracas
- 1998 ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES
Cerebellar ataxia, hypogonadism and chorioretinopathy: molecular analysis of an Italian family
- 1995 AMERICAN JOURNAL OF HUMAN GENETICS
THE FRIEDREICH ATAXIA CRITICAL REGION SPANS A 150-KB INTERVAL ON CHROMOSOME 9Q13
- 1996 AMERICAN JOURNAL OF HUMAN GENETICS
The relationship between trinucleotide (GAA) repeat length and clinical features in friedreich ataxia
