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...

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Detalhes bibliográficos
Main Authors: Schlipf, Nina A, Schüle, Rebecca, Klimpe, Sven, Karle, Kathrin N, Synofzik, Matthis, Wolf, Julia, Riess, Olaf, Schöls, Ludger, Bauer, Peter
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2014
Assuntos:
Clinical Report
Acesso em linha: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
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