A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia
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Using familial information for variant filtering in high-throughput sequencing studiesHereditary Cerebellar Ataxias: A Korean Perspective.Clinical Characteristics, Radiological Features and Gene Mutation in 10 Chinese Families with Spinocerebellar Ataxias.Role for Daple in non-canonical Wnt signaling during gastric cancer invasion and metastasis.Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11.Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.Insights into the human brain proteome: Disclosing the biological meaning of protein networks in cerebrospinal fluid.Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways.Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.The SARS-coronavirus membrane protein induces apoptosis via interfering with PDK1-PKB/Akt signalling.Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.Polysomnography findings in spinocerebellar ataxia type 6.Polyglutamine spinocerebellar ataxias - from genes to potential treatments.A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.
P2860
Q27008171-D828D7AD-3A10-44DF-A6C5-016A2548A875Q35699775-24523A67-2876-4D37-937E-FE30ECD1D007Q36523076-A50A0349-7A1B-436F-8ED3-2BE565998963Q36622056-CE6B2D94-D74C-4162-A77D-2F80AA7CA0CDQ37416701-B34C0FFF-36EB-401A-8FF0-CB5E210AD6DDQ38415567-11B32485-21C7-415D-9290-ADACFB78BED9Q38844925-82A092EB-81F8-4CDA-9544-8A003F9F3ABDQ38915057-B335F7A8-681B-42B7-AA33-0154A5765993Q39112358-FAB81A83-947F-4F54-8CDB-63D7AF134A11Q42185220-33FD5959-691C-4EE9-BBAD-B025F9F56120Q47623915-C753D917-E8F5-4213-A95F-0104AFA4BFBCQ47840395-5C345475-D2B6-4BC4-9CCA-6B13C2E13E12Q47880472-F06C8B5C-CE8D-4B65-8248-DCC4CF566FD8Q51034720-917B1373-1F11-4CCE-BD6C-6EF6F04F56E3Q55346979-94843BCB-70FD-4048-A488-DC08E7A31084
P2860
A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia
description
2014 nî lūn-bûn
@nan
2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
A novel missense mutation in C ...... form of spinocerebellar ataxia
@ast
A novel missense mutation in C ...... form of spinocerebellar ataxia
@en
A novel missense mutation in C ...... form of spinocerebellar ataxia
@en-gb
A novel missense mutation in C ...... form of spinocerebellar ataxia
@nl
type
label
A novel missense mutation in C ...... form of spinocerebellar ataxia
@ast
A novel missense mutation in C ...... form of spinocerebellar ataxia
@en
A novel missense mutation in C ...... form of spinocerebellar ataxia
@en-gb
A novel missense mutation in C ...... form of spinocerebellar ataxia
@nl
prefLabel
A novel missense mutation in C ...... form of spinocerebellar ataxia
@ast
A novel missense mutation in C ...... form of spinocerebellar ataxia
@en
A novel missense mutation in C ...... form of spinocerebellar ataxia
@en-gb
A novel missense mutation in C ...... form of spinocerebellar ataxia
@nl
P2093
P2860
P50
P921
P3181
P1476
A novel missense mutation in C ...... form of spinocerebellar ataxia
@en
P2093
Anne Y Y Chan
H Y Edwin Chan
Ivan F M Lo
Liz Y P Yuen
Nelson K N Ng
Stephen T S Lam
Suk Ying Tsang
Ting-Fung Chan
Tony M F Tong
P2860
P304
P3181
P356
10.1136/JMEDGENET-2014-102333
P407
P50
P577
2014-09-01T00:00:00Z