Detalhe da pesquisa
1.
Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis.
J Lipid Res
; 62: 100078, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33891937
2.
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
Brain
; 140(12): 3112-3127, 2017 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29126212
3.
Membrane-anchored Aß accelerates amyloid formation and exacerbates amyloid-associated toxicity in mice.
J Neurosci
; 33(49): 19284-94, 2013 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-24305824
4.
Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis.
Sci Rep
; 14(1): 7335, 2024 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538623
5.
Deep mining of oxysterols and cholestenoic acids in human plasma and cerebrospinal fluid: Quantification using isotope dilution mass spectrometry.
Anal Chim Acta
; 1154: 338259, 2021 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33736801
6.
Generation of the CRISPR/Cas9-mediated KIF1C knock-out human iPSC line HIHRSi003-A-1.
Stem Cell Res
; 49: 102059, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33161238
7.
Comparative Transcriptional Profiling of Motor Neuron Disorder-Associated Genes in Various Human Cell Culture Models.
Front Cell Dev Biol
; 8: 544043, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33072739
8.
Decreased Na+/K+ ATPase Expression and Depolarized Cell Membrane in Neurons Differentiated from Chorea-Acanthocytosis Patients.
Sci Rep
; 10(1): 8391, 2020 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32439941
9.
mRNA as a Novel Treatment Strategy for Hereditary Spastic Paraplegia Type 5.
Mol Ther Methods Clin Dev
; 15: 359-370, 2019 Dec 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31828178
10.
Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16.
Stem Cell Res
; 29: 166-169, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29679845
11.
Lithium Sensitive ORAI1 Expression, Store Operated Ca2+ Entry and Suicidal Death of Neurons in Chorea-Acanthocytosis.
Sci Rep
; 7(1): 6457, 2017 07 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-28743945
12.
Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5).
Stem Cell Res
; 17(2): 422-425, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27879216
13.
Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation.
Stem Cell Res
; 17(2): 433-436, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27879219
14.
Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5).
Stem Cell Res
; 17(2): 437-440, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27879220