Darius Ebrahimi-Fakhari, M.D.
This page shows the publications co-authored by Darius Ebrahimi-Fakhari and Angelica D'amore.
Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia. Neurology. 2021 Nov 09; 97(19):e1942-e1954.
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50). Stem Cell Res. 2021 05; 53:102335.
Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7. Neurol Genet. 2021 Feb; 7(1):e544.
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain. 2020 10 01; 143(10):2929-2944.
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52. Ann Clin Transl Neurol. 2020 04; 7(4):584-589.
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. Hum Mol Genet. 2020 01 15; 29(2):320-334.
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47). Stem Cell Res. 2019 10; 40:101575.
Expansion of the genetic landscape of ERLIN2-related disorders. Ann Clin Transl Neurol. 2020 04; 7(4):573-578.
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