Detalhe da pesquisa
1.
Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy.
J Med Genet
; 61(4): 340-346, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37923380
2.
Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia.
Muscle Nerve
; 69(6): 708-718, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38558464
3.
[Clinical and genetic analysis of a patient with Desminopathy manifesting initially with myalgia after lower limb activity].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(1): 96-100, 2024 Jan 10.
Artigo
em Zh
| MEDLINE | ID: mdl-38171567
4.
5' UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy.
Brain
; 144(2): 601-614, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33374016
5.
GNE myopathy in Chinese population: hotspot and novel mutations.
J Hum Genet
; 64(1): 11-16, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30390020
6.
Correction: GNE myopathy in Chinese population: hotspot and novel mutations.
J Hum Genet
; 64(3): 269, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30585253
7.
NOTCH2NLC-related oculopharyngodistal myopathy type 3 with cardiomyopathy and nephropathy.
Muscle Nerve
; 67(5): E18-E21, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36840947
8.
Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb-girdle muscular dystrophy type 2A by muscle magnetic resonance imaging.
Muscle Nerve
; 58(4): 536-541, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29797799
9.
Juvenile dermatomyositis in a Duchenne muscular dystrophy carrier.
Clin Exp Rheumatol
; 41(2): 398, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36622134
10.
Clinical features and long exercise test in Chinese patients with Andersen-Tawil syndrome.
Muscle Nerve
; 54(6): 1059-1063, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27145478
11.
Diagnostic delay in late-onset Pompe disease among Chinese patients: A retrospective study.
JIMD Rep
; 65(1): 39-46, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38186848
12.
Machine learning-based radiomics to differentiate immune-mediated necrotizing myopathy from limb-girdle muscular dystrophy R2 using MRI.
Front Neurol
; 14: 1251025, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37936913
13.
Intrafamilial phenotypic heterogeneity in GIPC1-related oculopharyngodistal myopathy type 2: a case report.
Neuromuscul Disord
; 33(9): 93-97, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37550168
14.
Early respiratory muscle involvement in LGMDR25: a case report.
Neuromuscul Disord
; 32(8): 692-696, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35718670
15.
Human-induced pluripotent stem cell line (FDHSi001-A) derived from a patient with a CGG repeat expansion in the 5'UTR of GIPC1.
Stem Cell Res
; 64: 102897, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36055118
16.
High-risk screening of late-onset Pompe disease: A different early portrait in China.
Front Neurol
; 13: 965207, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36237614
17.
The correlation of clinical evaluation with life quality and mental status in a Chinese cohort with dysferlinopathy.
J Clin Neurosci
; 81: 259-264, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33222926
18.
Clinical characteristics and long term follow-up of Lambert-Eaton myasthenia syndrome in patients with and without small cell lung cancer.
J Clin Neurosci
; 65: 41-45, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31072737
19.
Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy.
Neuromuscul Disord
; 29(8): 628-633, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31350120
20.
Statin-naïve anti-HMGCR antibody-mediated necrotizing myopathy in China.
J Clin Neurosci
; 57: 13-19, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30205933