Darius Ebrahimi-Fakhari, MD, PhD
Education
Medical School
Ruprecht-Karls University Heidelberg, 2013
Heidelberg, Germany
Internship/Residency
Heidelberg University Hospital, 2013-2014
Heidelberg, Germany
Residency
Pediatrics, Boston Combined Residency Program, Boston Children's Hospital 2016-2018
Child Neurology, Boston Children's Hospital, 2018- 2021
Boston, MA
Postdoctoral Fellowship
Neurobiology, Boston Children's Hospital/Harvard Medical School, 2014- 2016
Boston, MA
Post-Lab Work
Director, Movement Disorders Program, Boston Children's Hospital (2022 - )
Related Publications
- Abnormal mTOR Activation in Autism
- Clinical and genetic characterization of AP4B1-associated SPG47
- Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47)
- Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52
- High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia
- Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia
- Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia
- Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability
- Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
- Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking
- Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy
- Generation and Characterization of Six Human Induced Pluripotent Stem Cell Lines (iPSC) From Three Families with AP4M1-associated Hereditary Spastic Paraplegia (SPG50)
- Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis.
- High-throughput Imaging of ATG9A Distribution in Fibroblasts as a Diagnostic Functional Assay for Adaptor Protein Complex 4 - Associated Hereditary Spastic Paraplegia
- AP-4-mediated axonal transport controls endocannabinoid production in neurons.
- Mendelian Etiologies Identified with Whole Exome Sequencing in Cryptogenic and Non-Cryptogenic Cerebral Palsy
- Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis