Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
about
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
Q29143437-9B052530-FD6E-44AD-ACD5-3AC5B9563314Q31094282-A16A9A2B-661D-4CA4-8FDE-F537DF7A04F8Q38757908-6C5CC112-FDEF-4DFA-A3EB-720B7803B1ADQ38854549-1AC057A2-5EBB-484B-9AE0-137EE72DCFE6Q39275440-8E36B878-27F7-460E-805E-10A07853D3DBQ42289635-F84E21D1-14EA-473E-8340-DDB0D8F46590Q47439347-E7D3D9D6-BED9-4D82-A0AF-0055C659E039Q47619038-CB62B12A-0C8C-4D63-B0E7-9D8926DB8006Q48177919-9513D21B-FECD-4E5E-A095-0743D419CA50Q52095111-56400005-5721-44C7-8CF7-62C1BA0032F9Q52097470-89FCF6C9-D0B3-43F5-9BE9-FBE1C57AB048Q52578335-BD49F538-3D33-498F-A4FC-483D0B63EE22Q55122153-8ED67D62-63B2-46E8-948A-80FA5FC59141Q56232617-8B0D935A-7055-4FC6-A628-6A13847B4AE6Q56234418-4EC9F07D-6539-4531-A520-C26D47245113Q58779669-41A94385-20E7-4F4B-80ED-99A47BACCBF2
P2860
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
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
P2093
P2860
P50
P356
P1476
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes
@en
P2093
Dan Doherty
Gisele E Ishak
Harinder Gill
Ian G Phelps
Jennifer C Dempsey
Renske Oegema
Sarah Collins
Tracy Dudding
P2860
P304
P356
10.1093/HMG/DDV250
P577
2015-06-30T00:00:00Z