AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia

Hereditary spastic paraplegias (HSP) constitute a rare and highly heterogeneous group of neurodegenerative disorders, defined clinically by progressive lower limb spasticity and pyramidal weakness. Autosomal recessive HSP as well as sporadic cases present a significant diagnostic challenge. Mutation...

Descripción completa

Detalles Bibliográficos
Autores principales: Schlipf, Nina A, Schüle, Rebecca, Klimpe, Sven, Karle, Kathrin N, Synofzik, Matthis, Wolf, Julia, Riess, Olaf, Schöls, Ludger, Bauer, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Clinical Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190872/
https://www.ncbi.nlm.nih.gov/pubmed/25333062
http://dx.doi.org/10.1002/mgg3.87

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190872/
https://www.ncbi.nlm.nih.gov/pubmed/25333062
http://dx.doi.org/10.1002/mgg3.87

Ejemplares similares