Detalhe da pesquisa
1.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(1): 96-118, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181735
2.
PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature.
Am J Med Genet A
; 191(6): 1619-1625, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36905087
3.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(4): 805, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508193
4.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38723631
5.
Pregabalin and hyperbaric oxygen therapy on pain thresholds and anxio-depressive behaviors in a preclinical fibromyalgia pain model.
Front Pain Res (Lausanne)
; 4: 1097457, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36937563
6.
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.
medRxiv
; 2023 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37034625