Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Journal of neurology - 1 Jun 2013

Schlotawa Lars, Hotz Alrun, Zeschnigk Christine, Hartmann Britta, Gärtner Jutta, Morris-Rosendahl Deborah

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age of Onset
Share to Brain
Share to Cerebellar Ataxia
Share to Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Magnetic Resonance Imaging

Share to Pedigree

Share to Receptors, LDL

Share to Reverse Transcriptase Polymerase Chain Reaction

Source

Identifiers

PMID: 23670308
DOI: 10.1007/s00415-013-6941-z

Genes

VLDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation.PMID 23670308Read ↗

Identification of a Novel VLDLR Variant in the First Report of CAMRQ1 From Africa: Expanding the Spectrum of Cerebellar Ataxia Syndromes.Semantic proximity Read ↗

Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4Semantic proximity Read ↗

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

ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha FetoproteinSemantic proximity Read ↗

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.Semantic proximity Read ↗

Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency.Semantic proximity Read ↗

Lipid Dyshomeostasis and Inherited Cerebellar AtaxiaSemantic proximity Read ↗

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

Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.Semantic proximity Read ↗

Congenital Ataxia, Mental Retardation, and Dyskinesia Associated With a Novel CACNA1A MutationSemantic proximity Read ↗

Genetic Variant in GRM1 Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual Disability.Semantic proximity Read ↗

Macrothrombocytopenia, psychomotor retardation, and nephropathy: a novel familial syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.