Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome.
about
ATP1A3 Mutation in Adult Rapid-Onset AtaxiaHypergonadotropic hypogonadism, progressive early-onset spinocerebellar ataxia, and late-onset sensorineural hearing loss: case report and literature review.Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.Novel pregnancy-triggered episodes of CAPOS syndrome.
P2860
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P2860
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome.
description
1996 nî lūn-bûn
@nan
1996 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Cerebellar ataxia, areflexia, ...... loss (CAPOS): a new syndrome.
@ast
Cerebellar ataxia, areflexia, ...... loss (CAPOS): a new syndrome.
@en
type
label
Cerebellar ataxia, areflexia, ...... loss (CAPOS): a new syndrome.
@ast
Cerebellar ataxia, areflexia, ...... loss (CAPOS): a new syndrome.
@en
prefLabel
Cerebellar ataxia, areflexia, ...... loss (CAPOS): a new syndrome.
@ast
Cerebellar ataxia, areflexia, ...... loss (CAPOS): a new syndrome.
@en
P2093
P2860
P356
P1476
Cerebellar ataxia, areflexia, ...... loss (CAPOS): a new syndrome.
@en
P2093
Appleton RE
Nicolaides P
P2860
P304
P356
10.1136/JMG.33.5.419
P407
P577
1996-05-01T00:00:00Z