| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1017456384 |
| P356 | DOI | 10.1038/EJHG.2008.73 |
| P698 | PubMed publication ID | 18364738 |
| P5875 | ResearchGate publication ID | 5487163 |
| P2093 | author name string | S Mundlos | |
| K Hoffmann | |||
| Defne Aruoba | |||
| N Humphrey | |||
| Osman Demirhan | |||
| S Türkmen | |||
| P2860 | cites work | The Pafah1b complex interacts with the reelin receptor VLDLR | Q21144460 |
| 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 | ||
| Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification | Q24534023 | ||
| Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p | Q24655161 | ||
| Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome | Q28258987 | ||
| Disabled-1-regulated adhesion of migrating neurons to radial glial fiber contributes to neuronal positioning during early corticogenesis | Q28512150 | ||
| Reelin signaling is necessary for a specific step in the migration of hindbrain efferent neurons | Q28587634 | ||
| Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations | Q33845128 | ||
| Cortical development: receiving reelin | Q33855191 | ||
| Normal plasma lipoproteins and fertility in gene-targeted mice homozygous for a disruption in the gene encoding very low density lipoprotein receptor | Q33982023 | ||
| Reelin is a detachment signal in tangential chain-migration during postnatal neurogenesis. | Q34150597 | ||
| Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites | Q34282684 | ||
| Divergent roles of ApoER2 and Vldlr in the migration of cortical neurons | Q34697971 | ||
| Structures and functions of multiligand lipoprotein receptors: macrophage scavenger receptors and LDL receptor-related protein (LRP). | Q40643050 | ||
| Mouse very low-density lipoprotein receptor (VLDLR): gene structure, tissue-specific expression and dietary and developmental regulation | Q47928192 | ||
| Autosomal recessive cerebellar hypoplasia in the Hutterite population. | Q51925840 | ||
| Disequilibrium syndrome in Montana Hutterites. | Q52081565 | ||
| Reelin binds alpha3beta1 integrin and inhibits neuronal migration. | Q55034150 | ||
| The Dysequilibrium Syndrome – A genetic study | Q69713355 | ||
| P433 | issue | 9 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | lipoprotein | Q28350 |
| cerebellum | Q130983 | ||
| cerebellar hypoplasia | Q2214869 | ||
| P304 | page(s) | 1070-4 | |
| P577 | publication date | 2008-09-01 | |
| P1433 | published in | European Journal of Human Genetics | Q2155433 |
| P1476 | title | Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene | |
| P478 | volume | 16 |
| Q41904570 | A Family with Mental Retardation, Epilepsy and Cerebellar Hypoplasia Showing Linkage to Chromosome 20p11.21-q11.23 |
| Q35558738 | A deletion in the VLDLR gene in Eurasier dogs with cerebellar hypoplasia resembling a Dandy-Walker-like malformation (DWLM). |
| Q34413832 | A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion |
| Q24607165 | Apolipoprotein E receptors in the nervous system |
| Q36439309 | Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1. |
| Q37630552 | C-Terminal Region Truncation of RELN Disrupts an Interaction with VLDLR, Causing Abnormal Development of the Cerebral Cortex and Hippocampus. |
| Q27312310 | CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait |
| Q37851294 | Camptocormia in Parkinson's disease: a review of the literature |
| Q38432186 | Camptocormia in Parkinson's disease: definition, epidemiology, pathogenesis and treatment modalities |
| Q37823578 | Causes of camptocormia |
| Q43507249 | Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation. |
| Q53321531 | Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family. |
| Q41280706 | Endosomal lipid flippases and their related diseases. |
| Q43238093 | Genes and quadrupedal locomotion in humans |
| Q27320195 | Human quadrupeds, primate quadrupedalism, and Uner Tan Syndrome |
| Q27315776 | Inferior cerebellar hypoplasia resembling a Dandy-Walker-like malformation in purebred Eurasier dogs with familial non-progressive ataxia: a retrospective and prospective clinical cohort study |
| Q61467423 | Large deletions of theKCNV2gene are common in patients with cone dystrophy with supernormal rod response |
| Q36486210 | Lipoprotein receptors – an evolutionarily ancient multifunctional receptor family |
| Q36462361 | Macrophage VLDL receptor promotes PAFAH secretion in mother's milk and suppresses systemic inflammation in nursing neonates |
| Q33771320 | Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome) |
| Q51857474 | Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. |
| Q46134686 | Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII. |
| Q38131985 | Prenatal diagnosis and molecular cytogenetic characterization of a de novo pure distal 9p deletion and literature review |
| Q43161981 | Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion |
| Q57289111 | The Reelin Receptors Apolipoprotein E receptor 2 (ApoER2) and VLDL Receptor |
| Q35641962 | The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients |
| Q35192746 | Transport through recycling endosomes requires EHD1 recruitment by a phosphatidylserine translocase. |
| Q51725231 | Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation. |
| Q52138436 | Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples. |
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