Detalhe da pesquisa
1.
Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.
J Med Genet
; 60(5): 511-522, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36216457
2.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(1): 139-156, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595372
3.
Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease.
Biochem Soc Trans
; 49(4): 1567-1588, 2021 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34241636
4.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med
; 23(2): 352-362, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106617
5.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(2): 357, 2019 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30735662
6.
Clinical and molecular characteristics of a novel rare de novo variant in PPP2CA in a patient with a developmental disorder, autism, and epilepsy.
Front Cell Dev Biol
; 10: 1059938, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36531959
7.
Physiologic functions of PP2A: Lessons from genetically modified mice.
Biochim Biophys Acta Mol Cell Res
; 1866(1): 31-50, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30030003