Detalhe da pesquisa
1.
Diaphragmatic ultrasonography as a predictor of respiratory muscle fatigue in myasthenia gravis.
Muscle Nerve
; 69(2): 199-205, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38124677
2.
The autism risk gene CNTN4 modulates dendritic spine formation.
Hum Mol Genet
; 31(2): 207-218, 2021 12 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34415325
3.
Hyperhomocysteinemia in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Muscle Nerve
; 68(5): 750-757, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37606529
4.
Diagnostic utility of different dysphagia screening tools to detect dysphagia in individuals with amyotrophic lateral sclerosis.
Neurol Sci
; 44(11): 3919-3927, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37368071
5.
Genetic analysis in Chinese patients with familial or young-onset amyotrophic lateral sclerosis.
Neurol Sci
; 43(4): 2579-2587, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34564799
6.
SLC39A5 dysfunction impairs extracellular matrix synthesis in high myopia pathogenesis.
J Cell Mol Med
; 25(17): 8432-8441, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34302427
7.
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.
Hum Genet
; 140(4): 579-592, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33048237
8.
Structure and allosteric coupling of type â ¡ antitoxin CopASO.
Biochem Biophys Res Commun
; 514(4): 1122-1127, 2019 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31101334
9.
Correction to: Genetic analysis in Chinese patients with familial or youngonset amyotrophic lateral sclerosis.
Neurol Sci
; 43(4): 2913, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35064862
10.
The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis.
Orphanet J Rare Dis
; 19(1): 72, 2024 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38365830
11.
Efgartigimod in the treatment of Guillain-Barré syndrome.
J Neurol
; 271(6): 3506-3511, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38532142
12.
A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family.
Ann Clin Transl Neurol
; 10(11): 2139-2148, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37752894
13.
GGC repeat expansions in NOTCH2NLC causing a phenotype of lower motor neuron syndrome.
J Neurol
; 269(8): 4469-4477, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35366689
14.
Type II Alexander disease with fragile X mental retardation 1 gene mutation.
Clin Neurol Neurosurg
; 211: 107023, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34800814
15.
Rare NRXN1 missense variants identified in autism interfered protein degradation and Drosophila sleeping.
J Psychiatr Res
; 143: 113-122, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34487988
16.
Novel mutation of EDA causes new asymmetrical X-linked hypohidrotic ectodermal dysplasia phenotypes in a female.
J Dermatol
; 46(8): 731-733, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31241787
17.
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.
Sci Adv
; 5(9): eaax2166, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31579823
18.
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Nat Commun
; 10(1): 4679, 2019 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31616000
19.
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Mol Autism
; 9: 64, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30564305
20.
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Sci Rep
; 7: 44155, 2017 03 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28281572