Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

OBJECTIVE: Biallelic mutations in the AP5Z1 gene encoding the AP-5 ζ subunit have been described in a small number of patients with hereditary spastic paraplegia (HSP) (SPG48); we sought to define genotype–phenotype correlations in patients with homozygous or compound heterozygous sequence variants...

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Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: Hirst, Jennifer, Madeo, Marianna, Smets, Katrien, Edgar, James R., Schols, Ludger, Li, Jun, Yarrow, Anna, Deconinck, Tine, Baets, Jonathan, Van Aken, Elisabeth, De Bleecker, Jan, Datiles, Manuel B., Roda, Ricardo H., Liepert, Joachim, Züchner, Stephan, Mariotti, Caterina, De Jonghe, Peter, Blackstone, Craig, Kruer, Michael C.
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5001803/
https://ncbi.nlm.nih.gov/pubmed/27606357
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000098
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