<scp><i>ATP8A2</i></scp>‐Related Disorder: Beyond Cerebellar Ataxia-Reference-Cited by-同舟云学术

ATP8A2‐Related Disorder: Beyond Cerebellar Ataxia

Published:2023-06-30 Issue:8 Volume:10 Page:1215-1216
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Alves Corazza Luíza¹^ORCID,Lopes Braga Vinícius¹^ORCID,Yoshinaga Tonholo Silva Thiago¹^ORCID,Moura Rezende Filho Flávio¹^ORCID,Ferraz Sallum Juliana Maria¹,Graziani Povoas Barsottini Orlando¹,Pedroso José Luiz¹^ORCID

Affiliation:

1. Department of Neurology and Neurosurgery, Escola Paulista de Medicina Universidade Federal de São Paulo (UNIFESP) São Paulo Brazil

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference5 articles.

1. Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

2. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

3. A NEW SYNDROME WITH QUADRUPEDAL GAIT, PRIMITIVE SPEECH, AND SEVERE MENTAL RETARDATION AS A LIVE MODEL FOR HUMAN EVOLUTION

4. Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum

5. Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

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1. A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes;Neurogenetics;2024-07-27

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