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1.
ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations.
Neurobiol Dis
; 190: 106386, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38110041
2.
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.
Hum Mol Genet
; 29(2): 320-334, 2020 01 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-31915823
3.
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.
J Med Internet Res
; 23(3): e21023, 2021 03 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-33724192
4.
Biallelic Mutations in TSC2 Lead to Abnormalities Associated with Cortical Tubers in Human iPSC-Derived Neurons.
J Neurosci
; 39(47): 9294-9305, 2019 11 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-31591157
5.
Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls.
Stem Cell Res
; 77: 103424, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38677032
6.
Combining Off-flow, a Nextflow-coded program, and whole genome sequencing reveals unintended genetic variation in CRISPR/Cas-edited iPSCs.
Comput Struct Biotechnol J
; 23: 638-647, 2024 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-38283851
7.
Rigor and reproducibility in human brain organoid research: Where we are and where we need to go.
Stem Cell Reports
; 19(6): 796-816, 2024 Jun 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38759644
8.
High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia.
Nat Commun
; 15(1): 584, 2024 Jan 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-38233389
9.
Cortical neurons obtained from patient-derived iPSCs with GNAO1 p.G203R variant show altered differentiation and functional properties.
Heliyon
; 10(5): e26656, 2024 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38434323
10.
Pinceau organization in the cerebellum requires distinct functions of neurofascin in Purkinje and basket neurons during postnatal development.
J Neurosci
; 32(14): 4724-42, 2012 Apr 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-22492029
11.
Organization and maintenance of molecular domains in myelinated axons.
J Neurosci Res
; 91(5): 603-22, 2013 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-23404451
12.
A Robust Pipeline for the Multi-Stage Accelerated Differentiation of Functional 3D Cortical Organoids from Human Pluripotent Stem Cells.
Curr Protoc
; 3(1): e641, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36633423
13.
High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic Paraplegia.
Res Sq
; 2023 Jun 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37398196
14.
The cytoskeletal adaptor protein band 4.1B is required for the maintenance of paranodal axoglial septate junctions in myelinated axons.
J Neurosci
; 31(22): 8013-24, 2011 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-21632923
15.
Dynamic 3D Combinatorial Generation of hPSC-Derived Neuromesodermal Organoids With Diverse Regional and Cellular Identities.
Curr Protoc
; 2(10): e568, 2022 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-36264199
16.
GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy.
Mol Ther Methods Clin Dev
; 27: 32-46, 2022 Dec 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-36156879
17.
16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons.
Front Psychiatry
; 13: 924956, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36405918
18.
Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD).
Stem Cell Res
; 53: 102276, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33714067
19.
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.
NPJ Genom Med
; 6(1): 91, 2021 Nov 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34737294
20.
The septate junction protein caspr is required for structural support and retention of KCNQ4 at calyceal synapses of vestibular hair cells.
J Neurosci
; 29(10): 3103-8, 2009 Mar 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-19279247