An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor dom
about
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegiaPlekhg4 is a novel Dbl family guanine nucleotide exchange factor protein for rho family GTPasesTherapeutic prospects for spinocerebellar ataxia type 2 and 3.Tyrosine phosphorylation of Dbl regulates GTPase signalingAnalysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, JapanThe emerging role of guanine nucleotide exchange factors in ALS and other neurodegenerative diseases.Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics.A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis.Protein interacting with C kinase (PICK1) is a suppressor of spinocerebellar ataxia 3-associated neurodegeneration in Drosophila.Rac1 Activation Caused by Membrane Translocation of a Guanine Nucleotide Exchange Factor in Akt2-Mediated Insulin Signaling in Mouse Skeletal MuscleProtein-protein interaction networks in the spinocerebellar ataxiasOn autosomal dominant cerebellar ataxia (ADCA) other than polyglutamine diseases, with special reference to chromosome 16q22.1-linked ADCA.Cellular strategies for regulating functional and nonfunctional protein aggregation.Spontaneous shaker rat mutant - a new model for X-linked tremor/ataxia.GEFs in growth factor signaling.Spinocerebellar ataxia type 23: a genetic update.Emerging pathogenic pathways in the spinocerebellar ataxias.Nonenzymatic domains of Kalirin7 contribute to spine morphogenesis through interactions with phosphoinositides and AblRhoGEFs in cell motility: novel links between Rgnef and focal adhesion kinase.Regulating Rac in the nervous system: molecular function and disease implication of Rac GEFs and GAPs.Circadian Rhythms in Rho1 Activity Regulate Neuronal Plasticity and Network Hierarchy.Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.Peripheral neuropathy in chromosome16q22.1 linked autosomal dominant cerebellar ataxiaPeripheral neuropathy in chromosome16q22.1 linked autosomal dominant cerebellar ataxia.Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic.Inter-generational instability of inserted repeats during transmission in spinocerebellar ataxia type 31.Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.Autopsy case of spinocerebellar ataxia type 31 with severe dementia at the terminal stage.16q-linked autosomal dominant cerebellar ataxia in a Korean family.Abnormal RNA structures (RNA foci) containing a penta-nucleotide repeat (UGGAA)n in the Purkinje cell nucleus is associated with spinocerebellar ataxia type 31 pathogenesis.
P2860
Q24680886-98D75B53-EC69-4587-A6B5-93C9CA3C102AQ28504630-221BE2B2-EB65-43FD-833F-7BEB02AABDEFQ30410969-10C0A732-EA1B-43BB-A78F-7C58C7910A84Q33761349-DF203319-BADF-47C8-89DE-9C9F59548110Q34152678-4DF49835-FF25-4A80-AEBF-EDBE87512CAFQ34159126-0FB6946A-E8A7-4FE7-96D8-68AE2435373DQ34323333-D3C42F83-ED47-43B3-977E-B161F98B3A87Q35032843-AE73AAE8-F0C3-4A85-95E0-F7BEF415C7D2Q35605199-82BEE4D2-A3CC-4985-BB2E-DE959139414CQ36013309-D871E60F-0798-435F-905E-F967CF1E8034Q36563584-8D34B196-1482-4F2B-88EA-69BEFEC6D8EFQ36589172-AED86CC8-B4E5-434F-A767-32424EAEA4DCQ36713371-68D16F5B-33E3-4EA2-A3AB-A033A966B836Q36967497-392F8151-9500-44A2-B8FD-00E317844CB8Q37072597-099D6E42-DC7F-46BE-B4B6-58C21216E820Q37223778-B7422072-6654-4CA2-9741-4393F5FFB7CAQ37289638-E93F1576-D2C6-4E80-A7A9-052822876926Q37732166-EEBFEB25-5F05-44BC-ADFF-170E62320C7BQ38182132-43144FD8-5D8A-42CB-AA46-646E338D0525Q39329885-BB803D6B-75AA-40F9-A557-6D947C7A0CDFQ40669408-3B68F5A0-DB17-469A-9FA3-9D7482ECFDE1Q42034899-E62E175B-2A26-4DE5-A4A0-C785EEFE4D13Q42267109-C9B5D19D-6BCB-441F-BDFC-5C27230AA89CQ42766116-820579CC-BC8A-456B-8A10-C6BA99E8E559Q45235628-C9B43A75-645B-499C-808E-F2D0959A4BDFQ48240548-D60201D6-B1FF-4B22-96E0-01EA3781EEFFQ48341636-D9087849-8467-4071-83C4-06E8E5E246BEQ48417470-27258491-3BF0-4E89-9634-69FDA009A854Q53569423-E31BFED8-6BDD-40D4-8246-D7112E6C2409Q54262745-80DCA207-B62D-456A-802F-5740A7D24AD0
P2860
An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor dom
description
2005 nî lūn-bûn
@nan
2005 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
An autosomal dominant cerebell ...... nucleotide exchange-factor dom
@ast
An autosomal dominant cerebell ...... nucleotide exchange-factor dom
@en
An autosomal dominant cerebell ...... nucleotide exchange-factor dom
@en-gb
An autosomal dominant cerebell ...... nucleotide exchange-factor dom
@nl
type
label
An autosomal dominant cerebell ...... nucleotide exchange-factor dom
@ast
An autosomal dominant cerebell ...... nucleotide exchange-factor dom
@en
An autosomal dominant cerebell ...... nucleotide exchange-factor dom
@en-gb
An autosomal dominant cerebell ...... nucleotide exchange-factor dom
@nl
prefLabel
An autosomal dominant cerebell ...... nucleotide exchange-factor dom
@ast
An autosomal dominant cerebell ...... nucleotide exchange-factor dom
@en
An autosomal dominant cerebell ...... nucleotide exchange-factor dom
@en-gb
An autosomal dominant cerebell ...... nucleotide exchange-factor dom
@nl
P2093
P2860
P3181
P356
P1476
An autosomal dominant cerebell ...... nucleotide exchange-factor dom
@en
P2093
Gen Ishida
Hidehiro Mizusawa
Hiroshi Yamanouchi
Hiroto Fujigasaki
Hiroyuki Tomimitsu
Ikuko Kondo
Jiro Kumagai
Kazuhiro Kobayashi
Kinya Ishikawa
Kiyoshi Owada
P2860
P304
P3181
P356
10.1086/432518
P407
P577
2005-07-06T00:00:00Z