Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34
about
Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damageMolecular pathology of ataxia telangiectasiaXRCC1 is phosphorylated by DNA-dependent protein kinase in response to DNA damageThe diagnostic value of saccades in movement disorder patients: a practical guide and reviewCognitive functions in ataxia with oculomotor apraxia type 2.A new XRCC1-containing complex and its role in cellular survival of methyl methanesulfonate treatment.A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia.The involvement of DNA-damage and -repair defects in neurological dysfunctionMRI findings in AOA2: Cerebellar atrophy and abnormal iron detection in dentate nucleus.Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a modelSelective silencing of euchromatic L1s revealed by genome-wide screens for L1 regulators.
P2860
Q24309516-D5A71C18-5F7D-489C-B21A-6335E58C15E3Q24672363-62D7FBF5-E325-459C-946E-59A5AEA80507Q25257391-A07FEEE6-8FCA-4505-B544-984BA63245C1Q26770778-252875E9-1D5C-4AE2-AC0F-799E91AC4121Q30463388-D5D7597C-E3FA-48EA-A175-E9F521F69F29Q33292074-232DFA22-5047-4506-8983-A8A885D8399BQ33327787-9016CA56-2D3E-4817-BEB3-7029407CC6AFQ36718848-E0E09C09-182D-4FCB-8D3B-4F5551152F89Q37184523-9EE5923B-B00E-4477-8EDD-1BE5A005AC40Q37200324-BE90460E-703E-48D5-8162-C38B45F8AC90Q47277173-F8E563C1-0D7E-40F1-B99B-BCDDB846A96E
P2860
Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34
description
2000 nî lūn-bûn
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2000 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
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Autosomal recessive cerebellar ...... ) is linked to chromosome 9q34
@ast
Autosomal recessive cerebellar ...... ) is linked to chromosome 9q34
@en
Autosomal recessive cerebellar ...... ) is linked to chromosome 9q34
@en-gb
Autosomal recessive cerebellar ...... ) is linked to chromosome 9q34
@nl
type
label
Autosomal recessive cerebellar ...... ) is linked to chromosome 9q34
@ast
Autosomal recessive cerebellar ...... ) is linked to chromosome 9q34
@en
Autosomal recessive cerebellar ...... ) is linked to chromosome 9q34
@en-gb
Autosomal recessive cerebellar ...... ) is linked to chromosome 9q34
@nl
prefLabel
Autosomal recessive cerebellar ...... ) is linked to chromosome 9q34
@ast
Autosomal recessive cerebellar ...... ) is linked to chromosome 9q34
@en
Autosomal recessive cerebellar ...... ) is linked to chromosome 9q34
@en-gb
Autosomal recessive cerebellar ...... ) is linked to chromosome 9q34
@nl
P2093
P2860
P356
P1476
Autosomal recessive cerebellar ...... ) is linked to chromosome 9q34
@en
P2093
Bochukova E
Chapman CJ
P2860
P304
P356
10.1086/321199
P407
P577
2000-10-05T00:00:00Z