Detalhe da pesquisa
1.
The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.
Am J Hum Genet
; 109(3): 533-541, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148830
2.
Small molecule agonist of mitochondrial fusion repairs mitochondrial dysfunction.
Nat Chem Biol
; 19(4): 468-477, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36635564
3.
Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy.
J Med Genet
; 61(4): 340-346, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37923380
4.
Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation.
J Med Genet
; 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38413182
5.
CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model.
Proc Natl Acad Sci U S A
; 119(41): e2208649119, 2022 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36191230
6.
Pathologic changes in neuronal intranuclear inclusion disease are linked to aberrant FUS interaction under hyperosmotic stress.
Neurobiol Dis
; 190: 106391, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38145851
7.
Advances in lymphatic metastasis of non-small cell lung cancer.
Cell Commun Signal
; 22(1): 201, 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38566083
8.
Geographic differences in pharmacotherapy patterns and outcomes of acute ischemic stroke in China.
BMC Neurol
; 24(1): 64, 2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38360588
9.
SIRT6 deficiency results in developmental retardation in cynomolgus monkeys.
Nature
; 560(7720): 661-665, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30135584
10.
Decreased retinal vascular density is associated with cognitive impairment in CADASIL: an optical coherence tomography angiography study.
Neurol Sci
; 2024 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38372842
11.
COVID-19 in patients with myasthenia gravis: a single-center retrospective study in China.
Neurol Sci
; 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38652194
12.
Encephalitis-like episodes with cortical edema and enhancement in patients with neuronal intranuclear inclusion disease.
Neurol Sci
; 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38532189
13.
Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa.
Neuropathology
; 44(2): 87-95, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37469134
14.
Pathological findings with vacuoles in anti-mitochondrial antibody-positive inflammatory myopathy.
BMC Musculoskelet Disord
; 25(1): 257, 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38566087
15.
Aquaporin 4 Mediates the Effect of Iron Overload on Hydrocephalus After Intraventricular Hemorrhage.
Neurocrit Care
; 40(1): 225-236, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37208490
16.
Enhanced dewaterability of food waste digestate by biochar/potassium ferrate treatments: Performance and mechanisms.
J Environ Manage
; 354: 120268, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38364546
17.
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
Am J Hum Genet
; 106(6): 793-804, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32413282
18.
A Multicenter Cohort Study of Immune Dysregulation Disorders Caused by ELF4 Variants in China.
J Clin Immunol
; 43(5): 933-939, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36823308
19.
Fabrication of Channeled and Three-Dimensional Electrodes for the Integrated Capture and Detection of Invasive Circulating Tumor Cells during Hematogenous Metastasis.
Anal Chem
; 95(4): 2496-2503, 2023 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36639744
20.
Diazo-carboxyl Click Derivatization Enables Sensitive Analysis of Carboxylic Acid Metabolites in Biosamples.
Anal Chem
; 95(46): 16976-16986, 2023 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37943785