Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

Item
http://www.wikidata.org/entity/Q35679363
Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stabilityThe genetics of cerebellar malformationsThe emerging role of the tubulin code: From the tubulin molecule to neuronal function and disease.GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.Cerebral palsy and seizures in a child with tubulinopathy pattern dysgenesis and focal cortical dysplasiaExome Pool-Seq in neurodevelopmental disorders.The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend.Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.A Mutation in the Tubulin-Encoding TUBB3 Gene Causes Complex Cortical Malformations and Unilateral Hypohidrosis.Lissencephaly: Expanded imaging and clinical classification.Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) MutationTubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration
P2860

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

Item
http://www.wikidata.org/entity/Q35679363
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
@ast
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
@en
type
label
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
@ast
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
@en
prefLabel
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
@ast
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P932
P356
P1433
P1476
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P932