A. Guilbot
INSERM U289
Hôpital de la Salpêtrière
47 Boulevard de l'Hôpital
Paris
France
Name/email consistency: high
- A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. Guilbot, A., Williams, A., Ravisé, N., Verny, C., Brice, A., Sherman, D.L., Brophy, P.J., LeGuern, E., Delague, V., Bareil, C., Mégarbané, A., Claustres, M. Hum. Mol. Genet. (2001)
- Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1. Guilbot, A., Ravisé, N., Bouhouche, A., Coullin, P., Birouk, N., Maisonobe, T., Kuntzer, T., Vial, C., Grid, D., Brice, A., LeGuern, E. Eur. J. Hum. Genet. (1999)