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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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| Autors principals: | , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Blackwell Publishing Ltd
2014
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| Matèries: | |
| Accés en línia: | 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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