Detalhe da pesquisa
1.
An Atypical, Staged Cell Death Pathway Induced by Depletion of SNARE-Proteins MUNC18-1 or Syntaxin-1.
J Neurosci
; 43(3): 347-358, 2023 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36517239
2.
Power and optimal study design in iPSC-based brain disease modelling.
Mol Psychiatry
; 28(4): 1545-1556, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36385170
3.
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Brain
; 145(5): 1668-1683, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35190816
4.
Loss of MUNC18-1 leads to retrograde transport defects in neurons.
J Neurochem
; 157(3): 450-466, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33259669
5.
Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission.
Brain
; 143(2): 441-451, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31855252
6.
Cognitive benefits of the ketogenic diet in patients with epilepsy: A systematic overview.
Epilepsy Behav
; 87: 69-77, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30173019
7.
Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction.
Biol Psychiatry
; 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38490366
8.
Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP1-Related Disorder Patient Neurons.
Biol Psychiatry Glob Open Sci
; 4(1): 284-298, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38298782
9.
Age-related loss of axonal regeneration is reflected by the level of local translation.
Exp Neurol
; 339: 113594, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33450233
10.
STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG.
Front Physiol
; 12: 775172, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35002760
11.
The adult human subventricular zone: partial ependymal coverage and proliferative capacity of cerebrospinal fluid.
Brain Commun
; 2(2): fcaa150, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33376983
12.
Assessing the landscape of STXBP1-related disorders in 534 individuals
Artigo
em Inglês
| ARCA | ID: arc-54728