Ducros, A., Nagy, T., Alamowitch, S., Nibbio, A., Joutel, A., Vahedi, K., ...
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently identified autosomal dominant cerebral arteriopathy characterized by the recurrence...
Genetic Heterogeneity of Familial Hemiplegic Migraine
Joutel, A., Ducros, A., Vahedi, K., Labauge, P., Delrieu, O., Pinsard, N., ...
Familial hemiplegic migraine (FHM) is an autosomal dominant variety of migraine with aura. We previously mapped a gene responsible for this disorder to the short arm of chromosome 19, within a 30-cM...
Phenotype-genotype correlations in X linked retinitis pigmentosa.
Kaplan, J, Pelet, A, Martin, C, Delrieu, O, Aymé, S, Bonneau, D, ...
Retinitis pigmentosa (RP) represents a group of clinically heterogeneous retinal degenerations in which all modes of inheritance have been described. We have previously found two different clinical...