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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...
Autores principales: | Schlipf, Nina A, Schüle, Rebecca, Klimpe, Sven, Karle, Kathrin N, Synofzik, Matthis, Wolf, Julia, Riess, Olaf, Schöls, Ludger, Bauer, Peter |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Blackwell Publishing Ltd
2014
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Materias: | |
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 |
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