Detalhe da pesquisa
1.
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
Hum Mutat
; 40(8): 1115-1126, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31264822
2.
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
Ann Neurol
; 82(3): 466-478, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28856709
3.
Defining the phenotypic spectrum of SLC6A1 mutations.
Epilepsia
; 59(2): 389-402, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29315614
4.
Genomic analysis of synchronous intracranial meningiomas with different histological grades.
J Neurooncol
; 138(1): 41-48, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29423538
5.
GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.
Am J Med Genet A
; 170(8): 2200-5, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27232954
6.
Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.
J Hum Genet
; 60(4): 213-5, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25608830
7.
Reply to "a novel mutation in the transmembrane 6 domain of GABBR2 leads to a rett-like phenotype".
Ann Neurol
; 83(2): 439, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29377213
8.
Myeloid cell replacement is neuroprotective in chronic experimental autoimmune encephalomyelitis.
Nat Neurosci
; 27(5): 901-912, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38514857
9.
MiR-29 and MiR-140 regulate TRAIL-induced drug tolerance in lung cancer.
Anim Cells Syst (Seoul)
; 28(1): 184-197, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38693921
10.
A cell therapy approach to restore microglial Trem2 function in a mouse model of Alzheimer's disease.
Cell Stem Cell
; 30(8): 1043-1053.e6, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541210
11.
Augmentation of a neuroprotective myeloid state by hematopoietic cell transplantation.
bioRxiv
; 2023 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36945385
12.
RAPIDASH: A tag-free enrichment of ribosome-associated proteins reveals compositional dynamics in embryonic tissues and stimulated macrophages.
bioRxiv
; 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38106052
13.
Integrative analyses highlight functional regulatory variants associated with neuropsychiatric diseases.
Nat Genet
; 55(11): 1876-1891, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37857935
14.
Treatment of a genetic brain disease by CNS-wide microglia replacement.
Sci Transl Med
; 14(636): eabl9945, 2022 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35294256
15.
Overexpression of Replication-Dependent Histone Signifies a Subset of Dedifferentiated Liposarcoma with Increased Aggressiveness.
Cancers (Basel)
; 13(13)2021 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34206586
16.
JAK2, CALR, and MPL mutation spectrum in Japanese patients with myeloproliferative neoplasms.
Haematologica
; 100(2): e46-8, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25398833
17.
Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population.
Sci Rep
; 10(1): 1413, 2020 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31996704
18.
An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation.
Mol Genet Genomic Med
; 7(3): e532, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30569584
19.
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Nat Commun
; 10(1): 3094, 2019 07 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31300657
20.
A cell therapy approach to restore microglial Trem2 function in a mouse model of Alzheimer's disease.
Cell Stem Cell
; 30(10): 1392, 2023 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37802040