about
Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.Utilization of genetic testing prior to subspecialist referral for cerebellar ataxia.Clinical neurogenetics: autosomal dominant spinocerebellar ataxiaDNA repair abnormalities leading to ataxia: shared neurological phenotypes and risk factors.The Yield of Neuroimaging in Children Presenting to the Emergency Department With Acute Ataxia in the Post-Varicella Vaccine Era.Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey.Acute cerebellar ataxia following meningococcal group C conjugate vaccination.Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency
P2860
Q34074478-42D356C5-5CBE-4C3E-99DF-DFE3D21D7330Q35073865-CCFFA118-C6AD-48B8-BBEF-BAE4F348472DQ37067078-E9E1E669-8CEC-461D-AF34-7227ACBCA6A9Q37283126-46D7013F-CCF1-4F8B-AB52-F7D3391C6744Q38231252-9B7CDBAA-82CF-446A-9815-037725A793B4Q41585096-79F6235A-CB46-4A94-B7AA-0705293F0B14Q47134802-D06B6F8B-B135-4888-B00F-205BA6727354Q47383010-153A05DA-53DA-4E85-8A29-FF9A819A3DC6Q48232492-8D3E78B7-D161-498D-B528-35857217496AQ48270136-64D8A980-D886-4660-8F60-8466EADF9F55Q58120662-B160DF4C-D339-4922-B7D3-B27D06B20C5A
P2860
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
Childhood cerebellar ataxia.
@ast
Childhood cerebellar ataxia.
@en
type
label
Childhood cerebellar ataxia.
@ast
Childhood cerebellar ataxia.
@en
prefLabel
Childhood cerebellar ataxia.
@ast
Childhood cerebellar ataxia.
@en
P2860
P356
P1476
Childhood cerebellar ataxia.
@en
P2093
Brent L Fogel
P2860
P304
P356
10.1177/0883073812448231
P577
2012-07-04T00:00:00Z