Associated Papers
Neurogenic arthrogryposis, hypotonia, dysmorphic features plus malformation of cortical development further expands the ARL6IP1 loss-of-function phenotype.
Haliloğlu G et al.
Neuromuscular Disorders : Nmd, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG61
Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy.
Foronda H et al.
Nature, 2023
Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegia.
Cao Y et al.
Clinical Genetics, 2021
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