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1.
Diffractive order Mueller matrix ellipsometry for the design and manufacture of polarization beam splitting metasurfaces.
Opt Express
; 32(1): 703-721, 2024 Jan 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38175093
2.
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Am J Hum Genet
; 104(6): 1060-1072, 2019 06 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-31104773
3.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet
; 103(5): 666-678, 2018 11 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30343943
4.
Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy.
Neuropediatrics
; 51(5): 368-372, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32392612
5.
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Brain
; 140(5): 1316-1336, 2017 May 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28379373
6.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet
; 104(3): 562, 2019 Mar 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30849329
7.
Human organotypic brain slice cultures: a detailed and improved protocol for preparation and long-term maintenance.
J Neurosci Methods
; 404: 110055, 2024 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38184112
8.
Generation of an induced pluripotent stem cell (iPSC) line from a patient with GEFS+ carrying a STX1B (p.Lys45delinsArgMetCysIleGlu and p.Leu46Met) mutation.
Stem Cell Res
; 67: 103028, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36652844
9.
KCNC2 variants of uncertain significance are also associated to various forms of epilepsy.
Front Neurol
; 14: 1212079, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37360341
10.
Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series.
EBioMedicine
; 83: 104234, 2022 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-36029553
11.
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.
Neurology
; 98(20): e2046-e2059, 2022 05 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-35314505
12.
Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in KCNA1-Associated Episodic Ataxia and a Comprehensive Review of the Literature.
Front Neurol
; 12: 703970, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34566847
13.
Microglial inclusions and neurofilament light chain release follow neuronal α-synuclein lesions in long-term brain slice cultures.
Mol Neurodegener
; 16(1): 54, 2021 08 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34380535
14.
4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy.
Sci Transl Med
; 13(609): eaaz4957, 2021 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-34516822
15.
Human Cerebrospinal Fluid Induces Neuronal Excitability Changes in Resected Human Neocortical and Hippocampal Brain Slices.
Front Neurosci
; 14: 283, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32372899
16.
In Vitro Differentiated Human Stem Cell-Derived Neurons Reproduce Synaptic Synchronicity Arising during Neurodevelopment.
Stem Cell Reports
; 15(1): 22-37, 2020 07 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-32559460
17.
Generation of an induced pluripotent stem cell (iPSC) line (HIHDNEi003-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Thr374Ala) mutation.
Stem Cell Res
; 40: 101543, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31465893
18.
Irradiation enhances the therapeutic effect of the oncolytic adenovirus XVir-N-31 in brain tumor initiating cells.
Int J Mol Med
; 44(4): 1484-1494, 2019 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-31432139
19.
Establishment of a human induced pluripotent stem cell (iPSC) line (HIHDNEi002-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Arg297Gln) mutation.
Stem Cell Res
; 37: 101445, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31075689
20.
Long-term adult human brain slice cultures as a model system to study human CNS circuitry and disease.
Elife
; 82019 09 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31498083