Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p
about
Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humansCA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gaitUnertan syndrome: a case series demonstrating human devolutionUner tan syndrome: history, clinical evaluations, genetics, and the dynamics of human quadrupedalismUnertan syndrome: review and report of four new cases.Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.Characterization of a novel zebrafish (Danio rerio) gene, wdr81, associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ).Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotionProfilin1 biology and its mutation, actin(g) in disease.Profilin1 is required for glial cell adhesion and radial migration of cerebellar granule neurons.A wrist-walker exhibiting no "Uner Tan Syndrome": a theory for possible mechanisms of human devolution toward the atavistic walking patterns.Role of the actin-binding protein profilin1 in radial migration and glial cell adhesion of granule neurons in the cerebellum.Terminology in morphological anomalies of the cerebellum does matter.Genes and quadrupedal locomotion in humans.Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.Cerebellar hypoplasia: differential diagnosis and diagnostic approach.Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation."Unertan syndrome" in two Turkish families in relation to devolution and emergence of Homo erectus: neurological examination, MRI, and PET scans.Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.
P2860
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P2860
Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p
description
2006 nî lūn-bûn
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2006 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2006 թվականի մայիսին հրատարակված գիտական հոդված
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2006年の論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年论文
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name
Cerebellar hypoplasia and quad ...... rait mapping to chromosome 17p
@ast
Cerebellar hypoplasia and quad ...... rait mapping to chromosome 17p
@en
Cerebellar hypoplasia and quad ...... rait mapping to chromosome 17p
@nl
type
label
Cerebellar hypoplasia and quad ...... rait mapping to chromosome 17p
@ast
Cerebellar hypoplasia and quad ...... rait mapping to chromosome 17p
@en
Cerebellar hypoplasia and quad ...... rait mapping to chromosome 17p
@nl
prefLabel
Cerebellar hypoplasia and quad ...... rait mapping to chromosome 17p
@ast
Cerebellar hypoplasia and quad ...... rait mapping to chromosome 17p
@en
Cerebellar hypoplasia and quad ...... rait mapping to chromosome 17p
@nl
P2093
P2860
P356
P1476
Cerebellar hypoplasia and quad ...... rait mapping to chromosome 17p
@en
P2093
K Hoffmann
K Sperling
O Demirhan
P2860
P356
10.1136/JMG.2005.040030
P407
P577
2006-05-01T00:00:00Z