Detalhe da pesquisa
1.
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.
Am J Hum Genet
; 109(3): 518-532, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35108495
2.
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
Genet Med
; 26(6): 101117, 2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459834
3.
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.
Neurogenetics
; 20(3): 117-127, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31011849
4.
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
Brain
; 140(8): 2093-2103, 2017 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28633435
5.
Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.
Genet Med
; 18(6): 600-7, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26492578
6.
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.
Neurogenetics
; 16(1): 33-42, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25231362
7.
Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila.
Neurobiol Dis
; 65: 211-9, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24521780
8.
Randomized controlled trial of liberal vs. standard fasting instructions in percutaneous cardiac procedures.
Perioper Med (Lond)
; 12(1): 44, 2023 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37553699
9.
Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling.
Nat Commun
; 14(1): 999, 2023 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36890170
10.
Interleukin-12p70 expression by dendritic cells of HIV-1-infected patients fails to stimulate gag-specific immune responses.
Clin Dev Immunol
; 2012: 184979, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22844321
11.
Polyelectrolyte capsules-containing HIV-1 p24 and poly I:C modulate dendritic cells to stimulate HIV-1-specific immune responses.
Mol Ther
; 18(7): 1408-16, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20461059
12.
Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort.
Neurol Genet
; 7(5): e621, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34476298
13.
Efficient in vitro expansion of human immunodeficiency virus (HIV)-specific T-cell responses by gag mRNA-electroporated dendritic cells from treated and untreated HIV type 1-infected individuals.
J Virol
; 82(7): 3561-73, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18234800
14.
Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.
Neurology
; 88(6): 533-542, 2017 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28077491
15.
Immune and viral correlates of "secondary viral control" after treatment interruption in chronically HIV-1 infected patients.
PLoS One
; 7(5): e37792, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22666392
16.
Brownian dynamics of interactions between aldolase mutants and F-actin.
J Mol Recognit
; 15(6): 423-31, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12501161