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Article

A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia.

JAMA neurology - 1 Aug 2015

Bourassa Cynthia V, Raskin Salmo, Serafini Sérgio, Teive Hélio A G, Dion Patrick A, Rouleau Guy A

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26258735
DOI: 10.1001/jamaneurol.2015.0888

Genes

ELOVL4

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 9 closest

A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia.PMID 26258735Read ↗

Progressive symmetric erythrokeratodermia with spinocerebellar ataxia due to ELOVL4 mutation in a Chinese family.Semantic proximity Read ↗

A family study and literature review of ELOVL4-associated spinocerebellar ataxia type 34Semantic proximity Read ↗

A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.Semantic proximity Read ↗

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.Semantic proximity Read ↗

Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene.Semantic proximity Read ↗

A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity.Semantic proximity Read ↗

Rare mutation in ELOVL4 gene in SCA34 and cognitive affection: Expounding the role of cerebellum.Semantic proximity Read ↗

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophySemantic proximity Read ↗

A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy.Semantic proximity Read ↗

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