Ebrahimi-Fakhari D et al.. AP-4-Associated Hereditary Spastic Paraplegia. 2018 Dec 13. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 30543385.
Ebrahimi-Fakhari D et al. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain. 2020 Oct 1;143(10):2929-2944. PMID: 32979048; PMCID: PMC7780481.
Ebrahimi-Fakhari D et al. Clinical and genetic characterization of AP4B1-associated SPG47. Am J Med Genet A. 2018 Feb;176(2):311-318. PMID: 29193663.
AP4B1