Detalhe da pesquisa
1.
The Pathogenesis of Paroxysmal Kinesigenic Dyskinesia: Current Concepts.
Mov Disord
; 38(4): 537-544, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36718795
2.
TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large-Sample Study.
Mov Disord
; 37(3): 545-552, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34820915
3.
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Hum Mol Genet
; 27(4): 625-637, 2018 02 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29294000
4.
The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.
Mov Disord
; 35(8): 1428-1437, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32392383
5.
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
Inglês
| MEDLINE | ID: mdl-29356177
6.
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Hum Mol Genet
; 27(4): 757-758, 2018 02 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29351621
7.
A novel homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review.
Eur J Med Genet
; 65(11): 104608, 2022 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-36100157
8.
Altered structural and functional connectivity in CSF1R-related leukoencephalopathy.
Brain Imaging Behav
; 15(3): 1655-1666, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-32705467
9.
Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations.
Ann Transl Med
; 8(1): 8, 2020 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-32055599
10.
Primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia: Genetic and functional analyses.
Neurosci Lett
; 714: 134543, 2020 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31618668
11.
New phenotype of DCTN1-related spectrum: early-onset dHMN plus congenital foot deformity.
Ann Clin Transl Neurol
; 7(2): 200-209, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32023010
12.
Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review.
Neuromuscul Disord
; 29(4): 282-289, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30737079
13.
Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders.
Clin Neurol Neurosurg
; 177: 92-96, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30640048
14.
Lysosomal degradation of GMPPB is associated with limb-girdle muscular dystrophy type 2T.
Ann Clin Transl Neurol
; 6(6): 1062-1071, 2019 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-31211170
15.
Clinicopathologic characterization and abnormal autophagy of CSF1R-related leukoencephalopathy.
Transl Neurodegener
; 8: 32, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31827782
16.
Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review.
Seizure
; 57: 80-86, 2018 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-29605618
17.
The study of exercise tests in paroxysmal kinesigenic dyskinesia.
Clin Neurophysiol
; 129(11): 2435-2441, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30293034
18.
Depression, anxiety, and quality of life in paroxysmal kinesigenic dyskinesia patients.
Chin Med J (Engl)
; 130(17): 2088-2094, 2017 Sep 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28836553
19.
Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis.
Chin Med J (Engl)
; 131(4): 477-479, 2018 Feb 20.
Artigo
Inglês
| MEDLINE | ID: mdl-29451154
20.
Novel Mutations in Endoplasmic Reticulum Lipid Raft-associated Protein 2 Gene Cause Pure Hereditary Spastic Paraplegia Type 18.
Chin Med J (Engl)
; 129(22): 2759-2761, 2016 11 20.
Artigo
Inglês
| MEDLINE | ID: mdl-27824013