Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)

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Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome) is …
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scholarly articleQ13442814

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P356DOI10.1177/0883073809332696
P932PMC publication ID2849979
P698PubMed publication ID19332571
P5875ResearchGate publication ID24244900

P50authorJillian S ParboosinghQ114435061
Chandree L BeaulieuQ115667719
Kym M BoycottQ61638582
P2093author name stringJoachim Herz
James N Scott
Carsten Bonnemann
Anuradha Venkatasubramanian
Stephanie Neuert
P2860cites workMutation screening and genotype:phenotype correlation in familial hypercholesterolaemiaQ73176769
Reeler/Disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2Q22010158
Reelin is a ligand for lipoprotein receptorsQ22010835
Direct binding of Reelin to VLDL receptor and ApoE receptor 2 induces tyrosine phosphorylation of disabled-1 and modulates tau phosphorylationQ22010836
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplificationQ24534023
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromesQ24629822
Crk and Crk-like play essential overlapping roles downstream of disabled-1 in the Reelin pathwayQ24647125
Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humansQ24651459
Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17pQ24655161
Molecular genetics of the LDL receptor gene in familial hypercholesterolemiaQ28207758
Reelin and brain developmentQ28207865
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndromeQ28258987
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor geneQ28273868
Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouseQ28594996
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutationsQ33845128
Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in HutteritesQ34282684
An extracellular beta-propeller module predicted in lipoprotein and scavenger receptors, tyrosine kinases, epidermal growth factor precursor, and extracellular matrix componentsQ34477453
Lipoprotein receptors in the nervous systemQ34667437
Molecular mechanisms of lipoprotein receptor signallingQ36255783
Structure, chromosome location, and expression of the human very low density lipoprotein receptor gene.Q41493690
"Devolution" of bipedalityQ43238056
Identification of a doublet missense substitution in the bovine LRP4 gene as a candidate causal mutation for syndactyly in Holstein cattleQ48085900
Autosomal recessive cerebellar hypoplasia in the Hutterite population.Q51925840
Disequilibrium syndrome in Montana Hutterites.Q52081565
The dysequilibrium syndrome in cerebral palsy. Clinical aspects and treatment.Q52327600
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.Q52896530
Defective splicing of Megf7/Lrp4, a regulator of distal limb development, in autosomal recessive mulefoot diseaseQ57923292
The Dysequilibrium Syndrome – A genetic studyQ69713355
P433issue10
P921main subjectdysequilibrium syndromeQ4052543
autosomal recessive cerebellar ataxiaQ4826996
P304page(s)1310-1315
P577publication date2009-03-30
P1433published inJournal of Child NeurologyQ6294935
P1476titleMutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)
P478volume24