Detalhe da pesquisa
1.
Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.
Am J Med Genet A
; : e63642, 2024 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38711237
2.
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
Mov Disord
; 38(10): 1950-1956, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37470282
3.
First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C.
Am J Med Genet A
; 188(11): 3343-3349, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35972031
4.
Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family".
Mov Disord
; 38(8): 1575-1577, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37565404
5.
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
EBioMedicine
; 99: 104931, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38150853
6.
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.
Sci Rep
; 13(1): 9737, 2023 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37322040
7.
A common flanking variant is associated with enhanced meiotic stability of the FGF14 -SCA27B locus.
bioRxiv
; 2023 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37425777
8.
Global Burden Related to Nitrous Oxide Exposure in Medical and Recreational Settings: A Systematic Review and Individual Patient Data Meta-Analysis.
J Clin Med
; 8(4)2019 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31018613