scholarly article | Q13442814 |
P50 | author | Jillian S Parboosingh | Q114435061 |
Chandree L Beaulieu | Q115667719 | ||
Kym M Boycott | Q61638582 | ||
P2093 | author name string | Joachim Herz | |
James N Scott | |||
Carsten Bonnemann | |||
Anuradha Venkatasubramanian | |||
Stephanie Neuert | |||
P2860 | cites work | Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia | Q73176769 |
Reeler/Disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2 | Q22010158 | ||
Reelin is a ligand for lipoprotein receptors | Q22010835 | ||
Direct binding of Reelin to VLDL receptor and ApoE receptor 2 induces tyrosine phosphorylation of disabled-1 and modulates tau phosphorylation | Q22010836 | ||
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification | Q24534023 | ||
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes | Q24629822 | ||
Crk and Crk-like play essential overlapping roles downstream of disabled-1 in the Reelin pathway | Q24647125 | ||
Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans | Q24651459 | ||
Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p | Q24655161 | ||
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia | Q28207758 | ||
Reelin and brain development | Q28207865 | ||
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome | Q28258987 | ||
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene | Q28273868 | ||
Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse | Q28594996 | ||
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations | Q33845128 | ||
Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites | Q34282684 | ||
An extracellular beta-propeller module predicted in lipoprotein and scavenger receptors, tyrosine kinases, epidermal growth factor precursor, and extracellular matrix components | Q34477453 | ||
Lipoprotein receptors in the nervous system | Q34667437 | ||
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Structure, chromosome location, and expression of the human very low density lipoprotein receptor gene. | Q41493690 | ||
"Devolution" of bipedality | Q43238056 | ||
Identification of a doublet missense substitution in the bovine LRP4 gene as a candidate causal mutation for syndactyly in Holstein cattle | Q48085900 | ||
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 | ||
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Defective splicing of Megf7/Lrp4, a regulator of distal limb development, in autosomal recessive mulefoot disease | Q57923292 | ||
The Dysequilibrium Syndrome – A genetic study | Q69713355 | ||
P433 | issue | 10 | |
P921 | main subject | dysequilibrium syndrome | Q4052543 |
autosomal recessive cerebellar ataxia | Q4826996 | ||
P304 | page(s) | 1310-1315 | |
P577 | publication date | 2009-03-30 | |
P1433 | published in | Journal of Child Neurology | Q6294935 |
P1476 | title | Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome) | |
P478 | volume | 24 |