Detalhe da pesquisa
1.
Long-term melatonin treatment for the sleep problems and aberrant behaviors of children with neurodevelopmental disorders.
BMC Psychiatry
; 20(1): 445, 2020 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32912180
2.
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
J Med Genet
; 56(6): 396-407, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842224
3.
Association between children's sleep patterns and problematic behaviors at age 5.
Pediatr Int
; 62(10): 1189-1196, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32335978
4.
A High RORγT/CD3 Ratio is a Strong Prognostic Factor for Postoperative Survival in Advanced Colorectal Cancer: Analysis of Helper T Cell Lymphocytes (Th1, Th2, Th17 and Regulatory T Cells).
Ann Surg Oncol
; 23(3): 919-27, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26564244
5.
External sphincter resection for lower rectal and anal canal adenocarcinoma: achieving anal preservation with oncological and functional satisfaction.
Surg Today
; 44(7): 1385-8, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24817058
6.
Onasemnogene Abeparvovec Treatment after Nusinersen in an Infant with Spinal Muscular Atrophy Type 1.
Kurume Med J
; 69(3.4): 255-259, 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38233181
7.
Spinal Muscular Atrophy Type I With False Negative in Newborn Screening: A Case Report.
Cureus
; 15(7): e42382, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37621829
8.
Gene therapy for spinal muscular atrophy is considerably effective when administered as early as possible after birth.
Mol Genet Metab Rep
; 35: 100973, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37091744
9.
Comparison of long-term quality of life based on surgical procedure in patients with rectal cancer.
Front Oncol
; 13: 1197131, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37274255
10.
Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome.
J Neurol Sci
; 447: 120597, 2023 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36965413
11.
Perampanel markedly improved clinical seizures in a patient with a Rett-like phenotype and 960-kb deletion on chromosome 9q34.11 including the STXBP1.
Clin Case Rep
; 10(5): e05811, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35600024
12.
Exploratory evaluation of an eye-tracking system in patients with advanced spinal muscular atrophy type I receiving nusinersen.
Front Neurol
; 13: 918255, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36247789
13.
Investigation of clinicopathological characters and gene expression features in colorectal signet-ring cell carcinoma utilizing CMS classification.
Mol Clin Oncol
; 14(5): 98, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33767867
14.
Trifluridine/tipiracil plus bevacizumab as a first-line treatment for elderly patients with metastatic colorectal cancer (KSCC1602): A multicenter phase II trial.
Cancer Med
; 10(2): 454-461, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33249761
15.
Association between problematic behaviors and individual/environmental factors in difficult children.
Brain Dev
; 42(6): 431-437, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32276743
16.
Meaningful word acquisition is associated with walking ability over 10 years in Rett syndrome.
Brain Dev
; 42(10): 705-712, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32684376
17.
Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.
Sci Adv
; 6(51)2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33355142
18.
Resting energy expenditure prediction using bioelectrical impedance analysis in patients with severe motor and intellectual disabilities.
Brain Dev
; 41(4): 352-358, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30501961
19.
De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies.
Brain Dev
; 40(5): 406-409, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29519750
20.
A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl.
Brain Dev
; 40(6): 493-497, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29544889