Notice de titres et travaux - INIS
Formation Initiale : ? 1996 : Doctorat de physique de l'université de Paris VI ? spécialité physique théorique sous la direction de J.-M. Alimi à ...
Targeted NGS meets expert clinical characterization: Efficient ...Objective Hereditary spastic paraplegia (HSP) is characterized by a bilaterally spastic gait pattern. During gait, increased trunk movements are ... Genetic and phenotypic characterization of complex hereditary ...The term hereditary spastic paraplegia (HSP) refers to a large group of clinically and genetically heterogeneous neurodegenerative diseases, ... Mutations in the ER-shaping protein reticulon 2 cause the axon ...GCH1 mutations have been associated with dopa-responsive dystonia (DRD), Parkinson's disease (PD) and tetrahydrobiopterin (BH4)-deficient ...
Autres Cours:
