Publications
3 shownFriedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25 , was identified i...
Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy
Increased length of a protein-coding CAG repeat within the androgen receptor gene appears to be the only type of mutation responsible for spino-bulbal muscular atrophy (SBMA or ...
Frequent Co-Authors
Researcher Info
- h-index
- 3
- Publications
- 3
- Citations
- 3,108
- Institution
- Collège de France
External Links
Identifiers
- ORCID
- 0000-0002-0535-6589
Impact Metrics
h-index
3
h-index: Number of publications with at least h citations each.