Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations
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Autosomal recessive cerebellar ataxias.DNA single-strand break repair is impaired in aprataxin-related ataxia.A new XRCC1-containing complex and its role in cellular survival of methyl methanesulfonate treatment.Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.Aprataxin localizes to mitochondria and preserves mitochondrial functionAn overview of the patient with ataxia.New autosomal recessive cerebellar ataxias with oculomotor apraxia.Ataxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report.A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) diseaseDisease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation.DNA repair abnormalities leading to ataxia: shared neurological phenotypes and risk factors.Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage.Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit.Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.Nigrostriatal involvement in ataxia with oculomotor apraxia type 1.Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
P2860
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P2860
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations
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2002 nî lūn-bûn
@nan
2002 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Early-onset ataxia with ocular ...... : the aprataxin gene mutations
@ast
Early-onset ataxia with ocular ...... : the aprataxin gene mutations
@en
Early-onset ataxia with ocular ...... : the aprataxin gene mutations
@nl
type
label
Early-onset ataxia with ocular ...... : the aprataxin gene mutations
@ast
Early-onset ataxia with ocular ...... : the aprataxin gene mutations
@en
Early-onset ataxia with ocular ...... : the aprataxin gene mutations
@nl
prefLabel
Early-onset ataxia with ocular ...... : the aprataxin gene mutations
@ast
Early-onset ataxia with ocular ...... : the aprataxin gene mutations
@en
Early-onset ataxia with ocular ...... : the aprataxin gene mutations
@nl
P2093
P356
P1433
P1476
Early-onset ataxia with ocular ...... : the aprataxin gene mutations
@en
P2093
H Shimazaki
K Ikeguchi
M Namekawa
M Nishizawa
P356
10.1212/WNL.59.4.590
P407
P577
2002-08-27T00:00:00Z