Childhood-onset hereditary spastic paraplegia and its treatable mimics
D Ebrahimi-Fakhari, A Saffari, PL Pearl - Molecular genetics and …, 2022 - Elsevier
Early-onset forms of hereditary spastic paraplegia and inborn errors of metabolism that
present with spastic diplegia are among the most common “mimics” of cerebral palsy. Early …
present with spastic diplegia are among the most common “mimics” of cerebral palsy. Early …
Systematic analysis of brain MRI findings in adaptor protein complex 4–associated hereditary spastic paraplegia
Background and Objectives AP-4-associated hereditary spastic paraplegia (AP-4-HSP:
SPG47, SPG50, SPG51, SPG52) is an emerging cause of childhood-onset hereditary …
SPG47, SPG50, SPG51, SPG52) is an emerging cause of childhood-onset hereditary …
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia
D Ebrahimi-Fakhari, JE Alecu, B Brechmann… - Brain …, 2021 - academic.oup.com
Adaptor protein complex 4-associated hereditary spastic paraplegia is caused by biallelic
loss-of-function variants in AP4B1, AP4M1, AP4E1 or AP4S1, which constitute the four …
loss-of-function variants in AP4B1, AP4M1, AP4E1 or AP4S1, which constitute the four …