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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Neurol Genet
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer 2016
Témata:
Article
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky