Detalhe da pesquisa
1.
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
2.
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
3.
Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4.
Clin Genet;
2024 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38403837
4.
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
5.
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
6.
An Electroencephalography Profile of Paroxysmal Kinesigenic Dyskinesia.
Adv Sci (Weinh);
11(12): e2306321, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38227367
7.
A novel DCTN1 mutation causing perry syndrome leads to abnormal splicing of mRNA: genetic and functional analyses.
Acta Neurol Belg;
124(2): 661-663, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37668947
8.
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
9.
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
10.
The Pathogenesis of Paroxysmal Kinesigenic Dyskinesia: Current Concepts.
Mov Disord;
38(4): 537-544, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36718795
11.
Long-read sequencing identified intronic (GGCCTG)n expansion in NOP56 in one SCA36 family and literature review.
Clin Neurol Neurosurg;
223: 107503, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36368168
12.
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
13.
Heterogeneous Clinical Phenotypes of dHMN Caused by Mutation in HSPB1 Gene: A Case Series.
Biomolecules;
12(10)2022 Sep 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36291591
14.
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
15.
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
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.
Deficiency in endocannabinoid synthase DAGLB contributes to early onset Parkinsonism and murine nigral dopaminergic neuron dysfunction.
Nat Commun;
13(1): 3490, 2022 06 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35715418
19.
Clinical and genetic analyses of 150 patients with paroxysmal kinesigenic dyskinesia.
J Neurol;
269(9): 4717-4728, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35428900
20.
Novel Frameshift Heterozygous Mutation in UBAP1 Gene Causing Spastic Paraplegia-80: Case Report With Literature Review.
Front Neurol;
13: 820202, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35321509