Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients
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Insights into the Pathology of the α3 Na(+)/K(+)-ATPase Ion Pump in Neurological Disorders; Lessons from Animal ModelsThe Influence of Na(+), K(+)-ATPase on Glutamate Signaling in Neurodegenerative Diseases and SenescenceTreatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 MutationCognitive deficits caused by a disease-mutation in the α3 Na(+)/K(+)-ATPase isoform.ATP1A3 Mutation in Adult Rapid-Onset AtaxiaTransgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood.Deficits in social behavioral tests in a mouse model of alternating hemiplegia of childhood.Hypothermia-induced dystonia and abnormal cerebellar activity in a mouse model with a single disease-mutation in the sodium-potassium pump.Spontaneously Fluctuating Motor Cortex Excitability in Alternating Hemiplegia of Childhood: A Transcranial Magnetic Stimulation Study.A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.Arginine substitution of a cysteine in transmembrane helix M8 converts Na+,K+-ATPase to an electroneutral pump similar to H+,K+-ATPaseMotor function domains in alternating hemiplegia of childhood.Diagnosis and Treatment of Alternating Hemiplegia of Childhood.A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood.Characterization of cognitive deficits in mice with an alternating hemiplegia-linked mutation.More Than a Decade of Misdiagnosis of Alternating Hemiplegia of Childhood with Catastrophic Outcome.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.Atp1a3-deficient heterozygous mice show lower rank in the hierarchy and altered social behavior.More Than a Decade of Misdiagnosis of Alternating Hemiplegia of Childhood with Catastrophic Outcome.Challenges describing motor profiles in alternating hemiplegia of childhood.Mosaicism in ATP1A3-related disorders: not just a theoretical risk.Novel pregnancy-triggered episodes of CAPOS syndrome.Alternating Hemiplegia of Childhood with Novel Features.
P2860
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P2860
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients
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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
Clinical profile of patients w ...... ldhood-a study of 155 patients
@ast
Clinical profile of patients w ...... ldhood-a study of 155 patients
@en
type
label
Clinical profile of patients w ...... ldhood-a study of 155 patients
@ast
Clinical profile of patients w ...... ldhood-a study of 155 patients
@en
prefLabel
Clinical profile of patients w ...... ldhood-a study of 155 patients
@ast
Clinical profile of patients w ...... ldhood-a study of 155 patients
@en
P2093
P2860
P50
P1476
Clinical profile of patients w ...... ldhood-a study of 155 patients
@en
P2093
Adriana Ulate-Campos
Alexis Arzimanoglou
Alia Ramirez-Camacho
Amna Klich
Boukje de Vries
Brian Neville
Carmen Fons
Cecile Hubsch-Bonneaud
Christophe Goubau
Danilo Tiziano
P2860
P2888
P356
10.1186/S13023-015-0335-5
P50
P577
2015-09-26T00:00:00Z
P5875
P6179
1031253685