Detalhe da pesquisa
1.
VarCards2: an integrated genetic and clinical database for ACMG-AMP variant-interpretation guidelines in the human whole genome.
Nucleic Acids Res
; 52(D1): D1478-D1489, 2024 Jan 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37956311
2.
Altered hydroxymethylome in the substantia nigra of Parkinson's disease.
Hum Mol Genet
; 31(20): 3494-3503, 2022 10 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35661211
3.
Genetic landscape of human mitochondrial genome using whole-genome sequencing.
Hum Mol Genet
; 31(11): 1747-1761, 2022 06 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34897451
4.
Peripheral Inflammatory and Immune Landscape in Multiple System Atrophy: A Cross-Sectional Study.
Mov Disord
; 39(2): 391-399, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38155513
5.
Specific serum autoantibodies predict the development and progression of Alzheimer's disease with high accuracy.
Brain Behav Immun
; 115: 543-554, 2024 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37989443
6.
Microglia-containing human brain organoids for the study of brain development and pathology.
Mol Psychiatry
; 28(1): 96-107, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36474001
7.
Unveiling the role of iPLA2ß in neurodegeneration: From molecular mechanisms to advanced therapies.
Pharmacol Res
; 202: 107114, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38395207
8.
GGC expansions in NOTCH2NLC contribute to Parkinson disease and dopaminergic neuron degeneration.
Eur J Neurol
; 31(2): e16145, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37975799
9.
A detection model of cognitive impairment via the integrated gait and eye movement analysis from a large Chinese community cohort.
Alzheimers Dement
; 20(2): 1089-1101, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37876113
10.
Downregulation of TOP2 modulates neurodegeneration caused by GGGGCC expanded repeats.
Hum Mol Genet
; 30(10): 893-901, 2021 05 29.
Artigo
Inglês
| MEDLINE | ID: mdl-33749734
11.
Mutations in ARHGEF15 cause autosomal dominant hereditary cerebral small vessel disease and osteoporotic fracture.
Acta Neuropathol
; 145(5): 681-705, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36929019
12.
GSN gene frameshift mutations in Alzheimer's disease.
J Neurol Neurosurg Psychiatry
; 94(6): 436-447, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36650038
13.
No Correlation between Plasma GPNMB Levels and Multiple System Atrophy in Chinese Cohorts.
Mov Disord
; 38(10): 1956-1961, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37497669
14.
Synaptic Loss in Spinocerebellar Ataxia Type 3 Revealed by SV2A Positron Emission Tomography.
Mov Disord
; 38(6): 978-989, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-37023261
15.
Medication Status and Related Factors in Essential Tremor Patients: A Cross-Sectional Study in China.
Neuroepidemiology
; 57(4): 260-270, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37586340
16.
Associations between gut microbiota and Parkinson disease: A bidirectional Mendelian randomization analysis.
Eur J Neurol
; 30(11): 3471-3477, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37159496
17.
Diagnostic value of nerve conduction study in NOTCH2NLC-related neuronal intranuclear inclusion disease.
J Peripher Nerv Syst
; 28(4): 629-641, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37749855
18.
ALS-plus related clinical and genetic study from China.
Neurol Sci
; 44(10): 3557-3566, 2023 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-37204564
19.
Loss of Hap1 selectively promotes striatal degeneration in Huntington disease mice.
Proc Natl Acad Sci U S A
; 117(33): 20265-20273, 2020 08 18.
Artigo
Inglês
| MEDLINE | ID: mdl-32747555
20.
A detection model for cognitive dysfunction based on volatile organic compounds from a large Chinese community cohort.
Alzheimers Dement
; 19(11): 4852-4862, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37032600