Detalhe da pesquisa
1.
Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4.
Clin Genet
; 106(1): 56-65, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38403837
2.
Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia.
Mov Disord
; 39(4): 651-662, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38291924
3.
The Phenotypic and Genotypic Spectrum of CSF1R-Related Disorder in China.
Mov Disord
; 39(5): 798-813, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38465843
4.
Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review.
Neurogenetics
; 24(4): 243-250, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37468791
5.
The Pathogenesis of Paroxysmal Kinesigenic Dyskinesia: Current Concepts.
Mov Disord
; 38(4): 537-544, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36718795
6.
TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large-Sample Study.
Mov Disord
; 37(3): 545-552, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34820915
7.
Novel IBA57 mutations in two chinese patients and literature review of multiple mitochondrial dysfunction syndrome.
Metab Brain Dis
; 37(2): 311-317, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34709542
8.
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Hum Mol Genet
; 27(4): 625-637, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29294000
9.
The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.
Mov Disord
; 35(8): 1428-1437, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32392383
10.
Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.
Mov Disord
; 33(3): 459-467, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29356177
11.
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Hum Mol Genet
; 27(4): 757-758, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29351621
12.
Episodic Neurological Dysfunction in X-Linked Charcot-Marie-Tooth Disease: Expansion of the Phenotypic and Genetic Spectrum.
J Clin Neurol
; 20(1): 59-66, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38179633
13.
An Electroencephalography Profile of Paroxysmal Kinesigenic Dyskinesia.
Adv Sci (Weinh)
; 11(12): e2306321, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38227367
14.
Gut dysbiosis impairs intestinal renewal and lipid absorption in Scarb2 deficiency-associated neurodegeneration.
Protein Cell
; 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38635907
15.
PLP1 gene mutations cause spastic paraplegia type 2 in three families.
Ann Clin Transl Neurol
; 10(3): 328-338, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36622199
16.
Exploration of the Common Gene Characteristics and Molecular Mechanism of Parkinson's Disease and Crohn's Disease from Transcriptome Data.
Brain Sci
; 12(6)2022 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35741659
17.
New phenotype of RTN2-related spectrum: Complicated form of spastic paraplegia-12.
Ann Clin Transl Neurol
; 9(8): 1108-1115, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35684947
18.
DNA hypermethylation of NOTCH2NLC in neuronal intranuclear inclusion disease: a case-control study.
J Neurol
; 269(11): 6049-6057, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35857137
19.
Generation of an induced pluripotent stem cell JTUi005-A from a patient with neuronal intranuclear inclusion disease.
Stem Cell Res
; 65: 102938, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36244083
20.
A novel homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review.
Eur J Med Genet
; 65(11): 104608, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36100157