Detalhe da pesquisa
1.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Am J Hum Genet
; 111(3): 529-543, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38387458
2.
A streamlined CRISPR workflow to introduce mutations and generate isogenic iPSCs for modeling amyotrophic lateral sclerosis.
Methods
; 203: 297-310, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34500068
3.
Transcriptional Dysregulation and Impaired Neuronal Activity in FMR1 Knock-Out and Fragile X Patients' iPSC-Derived Models.
Int J Mol Sci
; 24(19)2023 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37834379
4.
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Am J Hum Genet
; 98(3): 541-552, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942287
5.
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
Brain
; 141(7): 1998-2013, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29878067
6.
A dynamic in vitro model of Down syndrome neurogenesis with trisomy 21 gene dosage correction.
Sci Adv
; 10(23): eadj0385, 2024 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38848354
7.
An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders.
Mol Neurodegener
; 19(1): 31, 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38576039
8.
Generation of patient-derived pluripotent stem cell-lines and CRISPR modified isogenic controls with mutations in the Parkinson's associated GBA gene.
Stem Cell Res
; 64: 102919, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130446
9.
Identification of amyloid beta in small extracellular vesicles via Raman spectroscopy.
Nanoscale Adv
; 3(14): 4119-4132, 2021 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34355118
10.
Midbrain organoids with an SNCA gene triplication model key features of synucleinopathy.
Brain Commun
; 3(4): fcab223, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34632384
11.
High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect.
Elife
; 72018 10 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311906
12.
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.
Orphanet J Rare Dis
; 11(1): 57, 2016 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27146152
13.
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
Nat Genet
; 44(9): 975-7, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22842229