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
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy.
Foronda H et al.
Nature, 2023
Liver X receptor-agonist treatment rescues degeneration in a Drosophila model of hereditary spastic paraplegia.
Byrne DJ et al.
Acta Neuropathologica Communications, 2022
Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegia.
Cao Y et al.
Clinical Genetics, 2021
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia.
Wakil SM et al.
Bmc Medical Genetics, 2019
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30237576 (PubMed )
Supplement: 41436_2018_138_MOESM2_ESM.xlsx › Table_1
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