Detalhe da pesquisa
1.
The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction.
Hum Mol Genet
; 32(1): 151-160, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35981053
2.
Local association of Trypanosoma cruzi chronic infection foci and enteric neuropathic lesions at the tissue micro-domain scale.
PLoS Pathog
; 17(8): e1009864, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34424944
3.
Loss-of-function variants within LMOD1 actin-binding site 2 cause pediatric intestinal pseudo-obstruction by impairing protein stability and actin nucleation.
FASEB J
; 36(3): e22194, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35170814
4.
Intestinal Pathology in Patients With Pathogenic ACTG2-Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature.
Pediatr Dev Pathol
; 25(6): 581-597, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35695198
5.
Molecular Targets to Alleviate Enteric Neuropathy and Gastrointestinal Dysfunction.
Adv Exp Med Biol
; 1383: 221-228, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36587161
6.
Phenotypic switch of smooth muscle cells in paediatric chronic intestinal pseudo-obstruction syndrome.
J Cell Mol Med
; 25(8): 4028-4039, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33656779
7.
Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton.
Am J Physiol Gastrointest Liver Physiol
; 320(6): G919-G935, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33729000
8.
Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy.
Am J Physiol Gastrointest Liver Physiol
; 320(5): G768-G779, 2021 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33655764
9.
Efficacy of prucalopride in critically ill patients with paralytic ileus: A pilot randomized double-blind placebo-controlled trial.
J Gastroenterol Hepatol
; 36(2): 362-366, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32483847
10.
Esophageal High-Resolution Manometry for Diagnosing the Severity of the Chronic Intestinal Pseudo-Obstruction: A Case Series.
Dig Dis Sci
; 66(11): 3960-3967, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33180245
11.
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
Clin Genet
; 98(3): 261-273, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32621347
12.
Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing.
Clin Genet
; 96(5): 473-477, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31389005
13.
Fetal megacystis: a lot more than LUTO.
Ultrasound Obstet Gynecol
; 53(6): 779-787, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30043466
14.
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Hum Mol Genet
; 25(3): 571-83, 2016 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26647307
15.
Clinical characteristics of lupus enteritis in Japanese patients: the large intestine-dominant type has features of intestinal pseudo-obstruction.
Lupus
; 27(10): 1661-1669, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30028259
16.
Diagnostic Criteria of Pediatric Intestinal Myopathies.
J Pediatr Gastroenterol Nutr
; 66(3): 383-386, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28837505
17.
Congenital Short-Bowel Syndrome in an Adult Dog.
Vet Pathol
; 55(3): 462-465, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29310549
18.
White paper on guidelines concerning enteric nervous system stem cell therapy for enteric neuropathies.
Dev Biol
; 417(2): 229-51, 2016 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27059883
19.
Clinical aspects of neurointestinal disease: Pathophysiology, diagnosis, and treatment.
Dev Biol
; 417(2): 217-28, 2016 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27059882
20.
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
PLoS Genet
; 10(3): e1004258, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24676022