Detalhe da pesquisa
1.
Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia.
Brain
; 142(8): 2238-2252, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31203368
2.
Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification.
Cell Tissue Res
; 370(2): 267-273, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28766044
3.
Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families.
J Hum Genet
; 62(7): 697-701, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28298627
4.
Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia.
Front Neurol
; 12: 627531, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34093392
5.
Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.
Ann Clin Transl Neurol
; 7(10): 1862-1869, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32860341
6.
Correction to: Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies.
J Mol Neurosci
; 70(4): 631, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31927767
7.
Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia.
Mol Diagn Ther
; 23(6): 781-789, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630374
8.
Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies.
J Mol Neurosci
; 68(4): 640-646, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31077085
9.
Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mutations in CAPN1 (SPG76).
Stem Cell Res
; 34: 101354, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30611022
10.
Chinese patients with adrenoleukodystrophy and Zellweger spectrum disorder presenting with hereditary spastic paraplegia.
Parkinsonism Relat Disord
; 65: 256-260, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31227335
11.
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
Mol Neurodegener
; 13(1): 36, 2018 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29980238
12.
c.835-5T>G Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular Atrophy.
J Mol Neurosci
; 65(2): 196-202, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29799103
13.
Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification.
Neuron
; 98(6): 1116-1123.e5, 2018 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29910000
14.
Application of urine cells in drug intervention for spinal muscular atrophy.
Exp Ther Med
; 14(3): 1993-1998, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28962115
15.
Modeling the phenotype of spinal muscular atrophy by the direct conversion of human fibroblasts to motor neurons.
Oncotarget
; 8(7): 10945-10953, 2017 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28099929
16.
Modeling the differential phenotypes of spinal muscular atrophy with high-yield generation of motor neurons from human induced pluripotent stem cells.
Oncotarget
; 8(26): 42030-42042, 2017 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-28159932