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Article

Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency.

Movement disorders : official journal of the Movement Disorder Society - 1 Nov 2013

Kruer Michael C, Jepperson Tyler N, Weimer Jill M, Mroch Amy, Davis-Keppen Laura, Crotwell Patricia, Parboosingh Jillian

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23813796
DOI: 10.1002/mds.25573

Genes

VLDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

Related research

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Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency.PMID 23813796Read ↗

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Ataxia with vitamin E deficiency with a mutation in a phospholipid transfer protein gene.Semantic proximity Read ↗

Genetic mutations affecting human lipoproteins, their receptors, and their enzymes.Semantic proximity Read ↗

Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation.Semantic proximity Read ↗

Mutations associated with very late-onset metachromatic leukodystrophy.Semantic proximity Read ↗

Mutations in <i>VLDLR</i> as a Cause for Autosomal Recessive Cerebellar Ataxia With Mental Retardation (Dysequilibrium Syndrome)Semantic proximity Read ↗

Retinitis pigmentosa and macular degeneration in a patient with ataxia with isolated vitamin E deficiency with a novel c.717 del C mutation in the TTPA geneSemantic proximity Read ↗

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophySemantic proximity Read ↗

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Proteinuria and severe mixed dyslipidemia associated with a novel APOAV gene mutation.Semantic proximity Read ↗

Familial ataxia with isolated vitamin E deficiency not due to mutation of alpha-TTP.Semantic proximity Read ↗

Ataxia with isolated vitamin E deficiency and retinitis pigmentosa.Semantic proximity Read ↗

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