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Article

Novel monoallelic variant in ERLIN2 causes spastic paraplegia converted to amyotrophic lateral sclerosis.

Journal of the neurological sciences - 15 Nov 2021

Kume Kodai, Kamada Masaki, Shimatani Yoshimitsu, Takata Tadayuki, Izumi Yuishin, Kawakami Hideshi

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Share to Amyotrophic Lateral Sclerosis
Share to Membrane Proteins
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Share to Paraplegia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Spastic Paraplegia, Hereditary

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Identifiers

PMID: 34536826
DOI: 10.1016/j.jns.2021.119984

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Novel monoallelic variant in ERLIN2 causes spastic paraplegia converted to amyotrophic lateral sclerosis.PMID 34536826Read ↗

Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.Semantic proximity Read ↗

A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.Semantic proximity Read ↗

Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability.Semantic proximity Read ↗

A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family.Semantic proximity Read ↗

Expanding the Phenotypic Spectrum of ERLIN1-Related SPG62: Report of Two Siblings With Behavioral Features and Hyperacusis.Semantic proximity Read ↗

A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18).Semantic proximity Read ↗

A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family.Semantic proximity Read ↗

Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.Semantic proximity Read ↗

An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18).Semantic proximity Read ↗

Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia.Semantic proximity Read ↗

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.Semantic proximity Read ↗

Clinical and genetic basis of familial amyotrophic lateral sclerosis.Semantic proximity Read ↗

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