Detalhe da pesquisa
1.
The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction.
Hum Mol Genet
; 32(1): 151-160, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35981053
2.
Defect in degradation of glycogenin-exposed residual glycogen in lysosomes is the fundamental pathomechanism of Pompe disease.
J Pathol
; 263(1): 8-21, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38332735
3.
Glymphatic dysfunction in patients with early-stage amyotrophic lateral sclerosis.
Brain
; 147(1): 100-108, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37584389
4.
Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy.
J Med Genet
; 61(4): 325-331, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37890998
5.
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study.
Hum Mol Genet
; 31(7): 1115-1129, 2022 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34718578
6.
Carbon Catalysts Empowering Sustainable Chemical Synthesis via Electrochemical CO2 Conversion and Two-Electron Oxygen Reduction Reaction.
Small
; : e2311163, 2024 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38308114
7.
Brain-Targeted Black Phosphorus-Based Nanotherapeutic Platform for Enhanced Hypericin Delivery in Depression.
Small
; : e2310608, 2024 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38461532
8.
High-Performance Indoor Perovskite Solar Cells by Self-Suppression of Intrinsic Defects via a Facile Solvent-Engineering Strategy.
Small
; 20(4): e2305192, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37718499
9.
Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE.
J Transl Med
; 22(1): 449, 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38741129
10.
Adipocyte-Specific Disruption of the BBSome Causes Metabolic and Autonomic Dysfunction.
Am J Physiol Regul Integr Comp Physiol
; 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38738295
11.
Mitochondrial Dysfunction due to Novel COQ8A Variation with Poor Response to CoQ10 Treatment: A Comprehensive Study and Review of Literatures.
Cerebellum
; 2024 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38429489
12.
Developing liver-targeted naringenin nanoparticles for breast cancer endocrine therapy by promoting estrogen metabolism.
J Nanobiotechnology
; 22(1): 122, 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38504208
13.
Adult-onset combined methylmalonic acidemia and hyperhomocysteinemia, cblC type with aortic dissection and acute kidney injury: a case report.
BMC Nephrol
; 25(1): 13, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38178022
14.
Shedding Light on Lysosomal Malondialdehyde Affecting Vitamin B12 Transport during Cerebral Ischemia/Reperfusion Injury.
J Am Chem Soc
; 145(41): 22609-22619, 2023 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37803879
15.
Metabolic consequences of skeletal muscle- and liver-specific BBSome deficiency.
Am J Physiol Endocrinol Metab
; 325(6): E711-E722, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37909854
16.
In Situ Fluorescence Imaging Reveals Contribution of Cerebral Hydroxyl Radicals in Hyperhomocysteinemia-Induced Alzheimer-like Dementia.
Anal Chem
; 95(26): 9872-9880, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37344960
17.
Cerebrospinal fluid GFAP is a predictive biomarker for conversion to dementia and Alzheimer's disease-associated biomarkers alterations among de novo Parkinson's disease patients: a prospective cohort study.
J Neuroinflammation
; 20(1): 167, 2023 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37475029
18.
STING controls opioid-induced itch and chronic itch via spinal tank-binding kinase 1-dependent type I interferon response in mice.
J Neuroinflammation
; 20(1): 101, 2023 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37122031
19.
Circulating mir-483-5p as a novel diagnostic biomarker for acute coronary syndrome and its predictive value for the clinical outcome after PCI.
BMC Cardiovasc Disord
; 23(1): 360, 2023 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37464313
20.
MELAS-associated m.5541C>T mutation caused instability of mitochondrial tRNATrp and remarkable mitochondrial dysfunction.
J Med Genet
; 59(1): 79-87, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33208382