Detalhe da pesquisa
1.
New and Developing Therapies in Spinal Muscular Atrophy: From Genotype to Phenotype to Treatment and Where Do We Stand?
Int J Mol Sci
; 21(9)2020 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32392694
2.
Early-Onset Infantile Facioscapulohumeral Muscular Dystrophy: A Timely Review.
Int J Mol Sci
; 21(20)2020 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33096728
3.
Gastrointestinal Involvements in Children With COVID-related Multisystem Inflammatory Syndrome.
Gastroenterology
; 160(5): 1887-1888, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32621901
4.
Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence.
Prenat Diagn
; 36(12): 1135-1138, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27762439
5.
MiR34 contributes to spinal muscular atrophy and AAV9-mediated delivery of MiR34a ameliorates the motor deficits in SMA mice.
Mol Ther Nucleic Acids
; 32: 144-160, 2023 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37064776
6.
Prevalence and risk factors for feeding and swallowing difficulties in spinal muscular atrophy types II and III.
J Pediatr
; 160(3): 447-451.e1, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21924737
7.
Potassium channel-related genes are a novel prognostic signature for the tumor microenvironment of renal clear cell carcinoma.
Front Oncol
; 12: 1013324, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36237326
8.
Care for Patients With Neuromuscular Disorders in the COVID-19 Pandemic Era.
Front Neurol
; 12: 607790, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33841296
9.
Circulating microRNAs as potential biomarkers and therapeutic targets in spinal muscular atrophy.
Ther Adv Neurol Disord
; 13: 1756286420979954, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33488772
10.
Childhood Posterior Reversible Encephalopathy Syndrome: Clinicoradiological Characteristics, Managements, and Outcome.
Front Pediatr
; 8: 585, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33042923
11.
Respiratory management for patients with neuromuscular disorders during the COVID-19 pandemic.
Ther Adv Respir Dis
; 14: 1753466620953789, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32878559
12.
Noninvasive Ventilation and Mechanical Insufflator-Exsufflator for Acute Respiratory Failure in Children With Neuromuscular Disorders.
Front Pediatr
; 8: 593282, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33194926
13.
Metabolic and Nutritional Issues Associated with Spinal Muscular Atrophy.
Nutrients
; 12(12)2020 Dec 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33339220
14.
Comparison of Clinical Characteristics Between Febrile and Afebrile Seizures Associated With Acute Gastroenteritis in Childhood.
Front Pediatr
; 8: 167, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32373562
15.
Aicardi syndrome in a 47, XXY male neonate with lissencephaly and holoprosencephaly.
J Neurol Sci
; 278(1-2): 138-40, 2009 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19155022
16.
An intra-abdominal oval-shaped mass.
J Paediatr Child Health
; 50(2): 162, 166, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24528446
17.
The use of hospital medical records for child injury surveillance in northern Malawi.
Trop Doct
; 39(3): 170-2, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19535758
18.
Multifaceted roles of microRNAs: From motor neuron generation in embryos to degeneration in spinal muscular atrophy.
Elife
; 82019 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31738166
19.
Emergency room visits and admission rates of children with neuromuscular disorders: A 10-year experience in a medical center in Taiwan.
Pediatr Neonatol
; 60(4): 405-410, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30482624
20.
Combined noninvasive ventilation and mechanical insufflator-exsufflator for acute respiratory failure in patients with neuromuscular disease: effectiveness and outcome predictors.
Ther Adv Respir Dis
; 13: 1753466619875928, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31544581