CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.
about
Insights into the Pathology of the α3 Na(+)/K(+)-ATPase Ion Pump in Neurological Disorders; Lessons from Animal ModelsEpisodic Ataxias: Clinical and Genetic FeaturesDeficits in social behavioral tests in a mouse model of alternating hemiplegia of childhood.Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.The Structure and Function of the Na,K-ATPase Isoforms in Health and Disease.De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation.Unmet Needs in Dystonia: Genetics and Molecular Biology-How Many Dystonias?Diagnosis and Treatment of Alternating Hemiplegia of Childhood.Characterization of cognitive deficits in mice with an alternating hemiplegia-linked mutation.Genetic Variants Associated with Episodic Ataxia in Korea.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
CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
CAOS-Episodic Cerebellar Ataxi ...... c Disorder of the ATP1A3 Gene.
@en
type
label
CAOS-Episodic Cerebellar Ataxi ...... c Disorder of the ATP1A3 Gene.
@en
prefLabel
CAOS-Episodic Cerebellar Ataxi ...... c Disorder of the ATP1A3 Gene.
@en
P2093
P2860
P356
P1476
CAOS-Episodic Cerebellar Ataxi ...... c Disorder of the ATP1A3 Gene.
@en
P2093
Andreea Nissenkorn
Ariel Feiglin
Berge A Minassian
Bruria Ben Zeev
Christian R Marshall
Dina Marek-Yagel
Esther Ganelin-Cohen
Gali Heimer
Lori Israelian
Michal Tzadok
P2860
P304
P356
10.1177/0883073815579708
P577
2015-04-20T00:00:00Z