Associated Papers
ERLIN1: A central regulator of protein quality control, lipid homeostasis, and cellular signaling at the endoplasmic reticulum.
Cho H et al.
Cellular Signalling, 2026
Expanding the Phenotypic Spectrum of ERLIN1-Related SPG62: Report of Two Siblings With Behavioral Features and Hyperacusis.
Ozkose GS et al.
Clinical Genetics, 2026
The genetics of motor neuron disease in New Zealand.
Mrkela M et al.
Journal of the Neurological Sciences, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG62
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.
Cogan G et al.
Human Genetics, 2024
ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree.
Tunca C et al.
European Journal of Human Genetics : Ejhg, 2018
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