Detalhe da pesquisa
1.
The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.
Am J Hum Genet
; 109(3): 533-541, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148830
2.
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
3.
Blockage of MLKL prevents myelin damage in experimental diabetic neuropathy.
Proc Natl Acad Sci U S A
; 119(14): e2121552119, 2022 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35344427
4.
Integrative multi-omics analysis identifies genetically supported druggable targets and immune cell specificity for myasthenia gravis.
J Transl Med
; 22(1): 302, 2024 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38521921
5.
A synonymous codon variant altering splicing of RBCK1 expands the phenotype and genotype spectra of polyglucosan body myopathy 1.
Clin Genet
; 104(3): 387-389, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37102570
6.
Different sensorimotor mechanism in fast and slow progression amyotrophic lateral sclerosis.
Hum Brain Mapp
; 43(5): 1710-1719, 2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34931392
7.
Involvement of Ocular Muscles in Patients With Myasthenia Gravis With Nonocular Onset.
J Neuroophthalmol
; 42(1): e260-e266, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34369469
8.
Nomogram for short-term outcome assessment in AChR subtype generalized myasthenia gravis.
J Transl Med
; 19(1): 285, 2021 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34193193
9.
Response to Eura et al.
Am J Hum Genet
; 109(11): 2090-2091, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36332613
10.
Neurological manifestations, laboratory and neuroimaging features in HIV-infected patients.
Neurosciences (Riyadh)
; 22(4): 311-315, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29057859
11.
A rare complex structural variant of novel intragenic inversion combined with reciprocal translocation t(X;1)(p21.2;p13.3) in Duchenne muscular dystrophy.
Neuromuscul Disord
; 39: 24-29, 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38714145
12.
Environmental factors affecting the risk of generalization for ocular-onset myasthenia gravis: a nationwide cohort study.
QJM
; 117(2): 109-118, 2024 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37802883
13.
Posterior reversible encephalopathy syndrome in a leber hereditary optic neuropathy patient with mitochondrial DNA 11778G>A point mutation.
J Neuroophthalmol
; 33(3): 276-8, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23782927
14.
[Clinical and imaging features and genetic analysis of a case with adult-onset Krabbe disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(5): 585-8, 2013 Oct.
Artigo
em Chinês
| MEDLINE | ID: mdl-24078576
15.
A Case Study and Literature Review of the Diagnosis of Danon Disease in Patients Presenting Only with Severe Cardiac Symptoms.
Pharmgenomics Pers Med
; 16: 767-775, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37609033
16.
Comparison between mono-tacrolimus and mono-glucocorticoid in the treatment of myasthenia gravis.
Ann Clin Transl Neurol
; 10(4): 589-598, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36808840
17.
Mortality of myasthenia gravis: a national population-based study in China.
Ann Clin Transl Neurol
; 10(7): 1095-1105, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37212271
18.
Short-term outcome prediction for myasthenia gravis: an explainable machine learning model.
Ther Adv Neurol Disord
; 16: 17562864231154976, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36860354
19.
[Detection for trinucleotide repeats in myotonic dystrophy type 1].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 29(1): 16-8, 2012 Feb.
Artigo
em Chinês
| MEDLINE | ID: mdl-22311484
20.
Beyond the Motor Cortex: Thalamic Iron Deposition Accounts for Disease Severity in Amyotrophic Lateral Sclerosis.
Front Neurol
; 13: 791300, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35280261