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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Schlipf, Nina A, Schüle, Rebecca, Klimpe, Sven, Karle, Kathrin N, Synofzik, Matthis, Wolf, Julia, Riess, Olaf, Schöls, Ludger, Bauer, Peter
Médium: Artigo
Jazyk:Inglês
Vydáno: Blackwell Publishing Ltd 2014
Témata:
Clinical Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4190872/
https://ncbi.nlm.nih.gov/pubmed/25333062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.87
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky