Associated Papers
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia.
Holling T et al.
Journal of Human Genetics, 2024
39085459 (PubMed )
Supplement: 10038_2024_1279_MOESM1_ESM.docx
Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation.
Schlotawa L et al.
Journal of Neurology, 2013
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.
Ali BR et al.
Bmc Medical Genetics, 2012
Re-evaluation of the dysequilibrium syndrome.
Melberg A et al.
Acta Neurologica Scandinavica, 2011
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome).
Boycott KM et al.
Journal of Child Neurology, 2009
CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait.
Türkmen S et al.
Plos Genetics, 2009
Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.
Ozcelik T et al.
Proceedings of the National Academy of Sciences of the United States of America, 2008
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