Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.
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New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutationsNesca, a novel neuronal adapter protein, links the molecular motor kinesin with the pre-synaptic membrane protein, syntaxin-1, in hippocampal neuronsCharacterisation of five candidate genes within the ETEC F4ab/ac candidate region in pigsClinical and molecular cytogenetic analyses of four patients with imbalanced translocations.Systematic review of autosomal recessive ataxias and proposal for a classification.Hereditary ataxias: overview.AMACR mutations cause late-onset autosomal recessive cerebellar ataxiaRubicon: LC3-associated phagocytosis and beyond.A recessive ataxia diagnosis algorithm for the next generation sequencing era.The Salih ataxia mutation impairs Rubicon endosomal localization.
P2860
Q27304506-73372F38-59EE-44A8-9718-8ABF1233952DQ28591235-E78E0A57-D379-4768-B892-5669B5F1F08EQ33947143-744AF873-ABDA-45FB-B21E-DFDC88342124Q36815458-DC0B4CDC-1107-4C9E-ACA9-660A5DCC483FQ37663386-76B6E865-04C2-4F51-8D12-DF84531B311CQ38094029-ABBDCAC1-3B22-4A67-838A-7318A61B3EB6Q41783105-C9E76F07-2AFE-46A5-9B82-247DB471AA18Q47568393-216759B5-D75F-4659-BE8E-4AB2F1E7BEBFQ47636375-A8793550-374B-406F-9838-9DB1E6528012Q50943825-8073A44C-B04D-42CD-82DA-29207C8EFDEC
P2860
Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.
description
2010 nî lūn-bûn
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name
Rundataxin, a novel protein wi ...... ant in a new recessive ataxia.
@en
Rundataxin, a novel protein wi ...... ant in a new recessive ataxia.
@nl
type
label
Rundataxin, a novel protein wi ...... ant in a new recessive ataxia.
@en
Rundataxin, a novel protein wi ...... ant in a new recessive ataxia.
@nl
prefLabel
Rundataxin, a novel protein wi ...... ant in a new recessive ataxia.
@en
Rundataxin, a novel protein wi ...... ant in a new recessive ataxia.
@nl
P2093
P2860
P356
P1433
P1476
Rundataxin, a novel protein wi ...... ant in a new recessive ataxia.
@en
P2093
Abdulmajeed AlDrees
Clotilde Lagier-Tourenne
Dorra H'Mida-Ben Brahim
Michel Koenig
Mirna Assoum
Mohammad M Kabiraj
Mohammad Z Seidahmed
Nathalie Drouot
Salah A Elmalik
Taha S Ahmed
P2860
P304
P356
10.1093/BRAIN/AWQ181
P407
P577
2010-08-01T00:00:00Z