Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Am J Hum Genet
; 109(8): 1421-1435, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35830857
2.
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain
; 146(8): 3273-3288, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36757831
3.
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Brain
; 146(12): 5031-5043, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37517035
4.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Genet Med
; 25(1): 135-142, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399134
5.
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Ann Neurol
; 92(2): 304-321, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35471564
6.
A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.
Clin Genet
; 102(6): 530-536, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35932216
7.
Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients.
Parkinsonism Relat Disord
; 119: 105961, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38145611
8.
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
medRxiv
; 2024 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38405817
9.
Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia.
Neurol Genet
; 9(5): e200094, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37646005
10.
Molecular mechanisms of the anti-cancer drug, LY2874455, in overcoming the FGFR4 mutation-based resistance.
Sci Rep
; 11(1): 16593, 2021 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34400727
11.
A novel carcinogenic PI3Kα mutation suggesting the role of helical domain in transmitting nSH2 regulatory signals to kinase domain.
Life Sci
; 269: 118759, 2021 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33189828