Detalhe da pesquisa
1.
Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease.
Ann Neurol
; 93(2): 244-256, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36088542
2.
GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy.
Ann Neurol
; 92(3): 512-526, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35700120
3.
Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2.
Neurogenetics
; 21(2): 79-86, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31832804
4.
Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families.
Brain
; 146(5): e27-e30, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36758993
5.
High frequency of the TARDBP p.M337 V mutation among south-eastern Chinese patients with familial amyotrophic lateral sclerosis.
BMC Neurol
; 18(1): 35, 2018 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29621978
6.
Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients.
Int J Neurosci
; 128(3): 199-207, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28931339
7.
Transcriptome screening and verification of genes related to metabolism affected by histone deacetylase inhibitors.
Yi Chuan
; 37(9): 918-25, 2015 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26399531
8.
Na3V2(PO4)3-decorated Na3V2(PO4)2F3 as a high-rate and cycle-stable cathode material for sodium ion batteries.
RSC Adv
; 14(17): 11862-11871, 2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38623293
9.
[Adamantane resistance among seasonal influenza A viruses between January to October in Guangzhou, 2009].
Zhonghua Jie He He Hu Xi Za Zhi
; 34(2): 95-9, 2011 Feb.
Artigo
em Chinês
| MEDLINE | ID: mdl-21426725
10.
Serum Uric Acid Levels Predict Mortality Risk in Male Amyotrophic Lateral Sclerosis Patients.
Front Neurol
; 12: 602663, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33776880
11.
Cryptic exon activation causes dystrophinopathy in two Chinese families.
Eur J Hum Genet
; 28(7): 947-955, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32047267
12.
Median Nerve-Neurophysiological Index Correlates With the Survival of Patients With Amyotrophic Lateral Sclerosis.
Front Neurol
; 11: 570227, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33193014
13.
A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy.
Chin Med J (Engl)
; 131(18): 2164-2171, 2018 Sep 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30203790
14.
A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2.
Chin Med J (Engl)
; 134(22): 2753-2755, 2021 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34845997
15.
Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Chin Med J (Engl)
; 132(13): 1615-1618, 2019 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31058673
16.
A new strategy for the synthesis of iron-oxide nanocrystals by using a single-spinneret electrospinning technique.
Chem Asian J
; 8(10): 2453-8, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23857954
17.
[Balloon kyphoplasty for the treatment of osteoporotic Kummell's disease].
Zhongguo Gu Shang
; 26(5): 429-34, 2013 May.
Artigo
em Chinês
| MEDLINE | ID: mdl-23937040
18.
[Reduction and fixation of fracture of pubic rami by inserting construction plate through the punctiform-incision approach].
Zhongguo Gu Shang
; 21(5): 337-9, 2008 May.
Artigo
em Chinês
| MEDLINE | ID: mdl-19108454