New autosomal recessive cerebellar ataxias with oculomotor apraxia.

New autosomal recessive cerebellar ataxias with oculomotor apraxia.

Item
http://www.wikidata.org/entity/Q36244602
Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damageFunctional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulationAtaxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage(1)H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2.EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.Transcription-associated events affecting genomic integrity.Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients
P2860

New autosomal recessive cerebellar ataxias with oculomotor apraxia.

Item
http://www.wikidata.org/entity/Q36244602
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh
2005年學術文章
@zh-hant
name
New autosomal recessive cerebellar ataxias with oculomotor apraxia.
@ast
New autosomal recessive cerebellar ataxias with oculomotor apraxia.
@en
type
label
New autosomal recessive cerebellar ataxias with oculomotor apraxia.
@ast
New autosomal recessive cerebellar ataxias with oculomotor apraxia.
@en
prefLabel
New autosomal recessive cerebellar ataxias with oculomotor apraxia.
@ast
New autosomal recessive cerebellar ataxias with oculomotor apraxia.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
New autosomal recessive cerebellar ataxias with oculomotor apraxia.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698