Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis.
about
Clinical presentations of coenzyme q10 deficiency syndromeAprataxin localizes to mitochondria and preserves mitochondrial functionLack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoproteinPrimary coenzyme Q10 (CoQ 10) deficiencies and related nephropathies.DNA repair abnormalities leading to ataxia: shared neurological phenotypes and risk factors.A novel GBA2 gene missense mutation in spastic ataxia.Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients
P2860
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P2860
Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
Ataxia with oculomotor apraxia ...... ts and differential diagnosis.
@en
Ataxia with oculomotor apraxia type 1
@nl
type
label
Ataxia with oculomotor apraxia ...... ts and differential diagnosis.
@en
Ataxia with oculomotor apraxia type 1
@nl
prefLabel
Ataxia with oculomotor apraxia ...... ts and differential diagnosis.
@en
Ataxia with oculomotor apraxia type 1
@nl
P2093
P2860
P50
P356
P1476
Ataxia with oculomotor apraxia ...... ts and differential diagnosis.
@en
P2093
Chiara Pantaleoni
Daria Riva
Sara Bulgheroni
Stefano D'Arrigo
P2860
P304
P356
10.1177/0883073808314959
P577
2008-04-10T00:00:00Z