Detalhe da pesquisa
1.
Intraoperative individualization of positive-end-expiratory pressure through electrical impedance tomography or esophageal pressure assessment: a systematic review and meta-analysis of randomized controlled trials.
J Clin Monit Comput
; 38(1): 89-100, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37863862
2.
Circulating Extracellular Vesicles in Subarachnoid Hemorrhage Patients: Characterization and Cellular Effects.
Int J Mol Sci
; 24(19)2023 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37834361
3.
Novel autophagic vacuolar myopathies: Phenotype and genotype features.
Neuropathol Appl Neurobiol
; 47(5): 664-678, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33393119
4.
Noninvasive respiratory support outside the intensive care unit for acute respiratory failure related to coronavirus-19 disease: a systematic review and meta-analysis.
Crit Care
; 25(1): 268, 2021 07 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34330320
5.
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.
Int J Mol Sci
; 22(7)2021 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33807278
6.
Intrafamilial "DOA-plus" phenotype variability related to different OMI/HTRA2 expression.
Am J Med Genet A
; 182(1): 176-182, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31609081
7.
ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor.
Am J Hum Genet
; 98(2): 275-86, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26849110
8.
Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy.
J Cell Physiol
; 233(8): 5829-5837, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29215735
9.
The identification of H3F3A mutation in giant cell tumour of the clivus and the histological diagnostic algorithm of other clival lesions permit the differential diagnosis in this location.
BMC Cancer
; 18(1): 358, 2018 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29609578
10.
A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens.
Hum Genomics
; 11(1): 18, 2017 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28764803
11.
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix.
J Med Genet
; 54(10): 710-720, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28735299
12.
Effects of different extracts of curcumin on TPC1 papillary thyroid cancer cell line.
BMC Complement Altern Med
; 18(1): 63, 2018 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29448931
13.
Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function.
Biochim Biophys Acta
; 1842(7): 992-1000, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24642144
14.
A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.
J Neurochem
; 135(6): 1123-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26478990
15.
Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.
Hum Mol Genet
; 22(18): 3654-66, 2013 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23686279
16.
The Role of New Morphological Parameters Provided by the BC 6800 Plus Analyzer in the Early Diagnosis of Sepsis.
Diagnostics (Basel)
; 14(3)2024 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38337856
17.
Successful long-term therapy with flecainide in a family with paramyotonia congenita.
J Neurol Neurosurg Psychiatry
; 89(11): 1232-1234, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29487168
18.
Association of a GRIA3 gene polymorphism with migraine in an Australian case-control cohort.
Headache
; 53(8): 1245-9, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23772601
19.
Common and Rare Variants in TMEM175 Gene Concur to the Pathogenesis of Parkinson's Disease in Italian Patients.
Mol Neurobiol
; 60(4): 2150-2173, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36609826
20.
The melatonin receptor 1A (MTNR1A) gene is associated with recurrent and idiopathic calcium nephrolithiasis.
Nephrol Dial Transplant
; 27(1): 210-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21652546