Congenital ataxia due to novel variant in ATP8A2-Reference-Cited by-同舟云学术

Congenital ataxia due to novel variant in ATP8A2

Published:2021-04-22 Issue:1 Volume:100 Page:79-83
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Damásio Joana¹²^ORCID,Santos Diana¹,Morais Sara¹,Brás José³⁴,Guerreiro Rita³⁴,Sardoeira Ana²,Cavaco Sara⁵,Carrilho Inês⁶,Barbot Clara¹,Barros José²⁷,Sequeiros Jorge¹⁷

Affiliation:

1. UnIGENe/CGPP – Instituto de Biologia Molecular e Celular Instituto de Investigação e Inovação em Saúde, Universidade do Porto Porto Portugal

2. Serviço Neurologia Centro Hospitalar Universitário do Porto Porto Portugal

3. Center for Neurodegenerative Science Van Andel Research Institute Grand Rapids Michigan USA

4. Division of Psychiatry and Behavioral Medicine Michigan State University College of Human Medicine Grand Rapids Michigan USA

5. Unidade Neuropsicologia Centro Hospitalar Universitário do Porto Porto Portugal

6. Unidade Neurologia Pediátrica Centro Hospitalar Universitário do Porto Porto Portugal

7. Instituto de Ciências Biomédicas de Abel Salazar Universidade do Porto Porto Portugal

Funder

European Regional Development Fund

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13954

Reference14 articles.

1. Localization, Purification, and Functional Reconstitution of the P4-ATPase Atp8a2, a Phosphatidylserine Flippase in Photoreceptor Disc Membranes

2. Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion

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

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

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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

2. A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability ofATP8A2-related disorders caused by missense changes;2024-05-15

3. Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4;PRILOZI;2023-12-01

4. Structure, Function and Distribution of ATP8A2 in Human and Mice;Neurochemical Journal;2023-08-30

5. Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of <i>ATP8A2</i>;The Tohoku Journal of Experimental Medicine;2022