Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG18
Expanding SPG18 clinical spectrum: autosomal dominant mutation causes complicated hereditary spastic paraplegia in a large family.
Trinchillo A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability.
Cioffi E et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Disruption of Intracellular Calcium Homeostasis Leads to ERLIN2-Linked Hereditary Spastic Paraplegia in Patient-Derived Stem Cell Models.
Zhu X et al.
Human Mutation, 2023
Expansion of the genetic landscape of ERLIN2-related disorders.
Srivastava S et al.
Annals of Clinical and Translational Neurology, 2020
An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18).
Park JM et al.
Scientific Reports, 2020
Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS.
Amador MD et al.
Neurology. Genetics, 2019
A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.
Rydning SL et al.
European Journal of Neurology, 2018
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