Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene
about
Apolipoprotein E receptors in the nervous systemCA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gaitInferior cerebellar hypoplasia resembling a Dandy-Walker-like malformation in purebred Eurasier dogs with familial non-progressive ataxia: a retrospective and prospective clinical cohort studyHuman quadrupeds, primate quadrupedalism, and Uner Tan SyndromeMutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotionTransport through recycling endosomes requires EHD1 recruitment by a phosphatidylserine translocase.A deletion in the VLDLR gene in Eurasier dogs with cerebellar hypoplasia resembling a Dandy-Walker-like malformation (DWLM).The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patientsAutosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.Macrophage VLDL receptor promotes PAFAH secretion in mother's milk and suppresses systemic inflammation in nursing neonates.Lipoprotein receptors--an evolutionarily ancient multifunctional receptor family.C-Terminal Region Truncation of RELN Disrupts an Interaction with VLDLR, Causing Abnormal Development of the Cerebral Cortex and Hippocampus.Causes of camptocormia.Camptocormia in Parkinson's disease: a review of the literature.Camptocormia in Parkinson's disease: definition, epidemiology, pathogenesis and treatment modalitiesEndosomal lipid flippases and their related diseases.A Family with Mental Retardation, Epilepsy and Cerebellar Hypoplasia Showing Linkage to Chromosome 20p11.21-q11.23Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion.Genes and quadrupedal locomotion in humans.Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation.Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.
P2860
Q24607165-2A01ED55-E9F9-4957-9F40-4B64921F73C7Q27312310-2007D457-6147-4207-B764-0EC6120CE07DQ27315776-BF9B20BD-8EA0-4B76-880A-F052FC171005Q27320195-1F3E88A2-A7FE-4D1D-816F-1C1568624D4BQ33771320-40723015-9A20-4C22-B89A-1A5718273550Q34413832-C6A46A11-B986-48F3-A87A-FAC1D8072A06Q35192746-003C6A2A-1D24-4DBA-8F0A-916EBB5A6881Q35558738-12B6028F-991B-4967-987D-4C6C7A04F68CQ35641962-BBC7F0ED-3A9E-4305-A96E-35C88B74B25AQ36439309-52947307-D884-408B-89CF-EC7B80E901DAQ36462361-F44D25C9-6855-43AC-9618-E144F32C5349Q36486210-378F1039-A309-44F3-9958-A8E1BE4360D2Q37630552-D135B158-2273-4822-8742-754110FF5596Q37823578-A241F794-196F-473C-BB84-0BA49C0A50B8Q37851294-3DCCC76E-2935-4950-B23F-E920CB1F8393Q38432186-F737466E-F756-4F2F-A6DB-6027DDB5A9BCQ41280706-7F9F254A-A44F-4B53-AA07-A8D132B12695Q41904570-5FCD2A22-FDB7-4990-A82D-B59DA9AC2E93Q43161981-8F951EB1-0FB8-461E-B736-0C3006DFCBF1Q43238093-F2AB025D-3AE1-4883-8CAE-A945FA8F5874Q43507249-B2A35A15-A5E4-4250-8BE7-1E480E3E197DQ46134686-652886F9-C106-4DC1-B994-927D57D4B47FQ51725231-A52C69FA-E6D0-4917-B700-B8BCB92803AEQ52138436-3089DC37-E437-4B60-BBAD-C42D8A076A52Q53321531-A281E2F4-5CFD-4501-B0D7-C28EEF0C157C
P2860
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene
description
2008 nî lūn-bûn
@nan
2008 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Cerebellar hypoplasia, with qu ...... sity lipoprotein receptor gene
@ast
Cerebellar hypoplasia, with qu ...... sity lipoprotein receptor gene
@en
Cerebellar hypoplasia, with qu ...... sity lipoprotein receptor gene
@nl
type
label
Cerebellar hypoplasia, with qu ...... sity lipoprotein receptor gene
@ast
Cerebellar hypoplasia, with qu ...... sity lipoprotein receptor gene
@en
Cerebellar hypoplasia, with qu ...... sity lipoprotein receptor gene
@nl
prefLabel
Cerebellar hypoplasia, with qu ...... sity lipoprotein receptor gene
@ast
Cerebellar hypoplasia, with qu ...... sity lipoprotein receptor gene
@en
Cerebellar hypoplasia, with qu ...... sity lipoprotein receptor gene
@nl
P2093
P356
P1476
Cerebellar hypoplasia, with qu ...... sity lipoprotein receptor gene
@en
P2093
Defne Aruoba
K Hoffmann
N Humphrey
Osman Demirhan
P2888
P304
P356
10.1038/EJHG.2008.73
P407
P577
2008-09-01T00:00:00Z
P5875
P6179
1017456384