Detalhe da pesquisa
1.
Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency.
Neuropathol Appl Neurobiol
; 48(1): e12761, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405429
2.
Respiratory chain dysfunction in perifascicular muscle fibres in patients with dermatomyositis is associated with mitochondrial DNA depletion.
Neuropathol Appl Neurobiol
; 48(7): e12841, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35894812
3.
FET family fusion oncoproteins target the SWI/SNF chromatin remodeling complex.
EMBO Rep
; 20(5)2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30962207
4.
A novel complex neurological phenotype due to a homozygous mutation in FDX2.
Brain
; 141(8): 2289-2298, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30010796
5.
Identification of inhibitors regulating cell proliferation and FUS-DDIT3 expression in myxoid liposarcoma using combined DNA, mRNA, and protein analyses.
Lab Invest
; 98(7): 957-967, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29588491
6.
Regulatory mechanisms, expression levels and proliferation effects of the FUS-DDIT3 fusion oncogene in liposarcoma.
J Pathol
; 238(5): 689-99, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26865464
7.
A conserved N-terminal motif is required for complex formation between FUS, EWSR1, TAF15 and their oncogenic fusion proteins.
FASEB J
; 27(12): 4965-74, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23975937
8.
Fused in sarcoma (FUS) interacts with the cytolinker protein plectin: implications for FUS subcellular localization and function.
Exp Cell Res
; 318(5): 653-61, 2012 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22240165
9.
Subtyping of cardiac amyloidosis by mass spectrometry-based proteomics of endomyocardial biopsies.
Amyloid
; 30(1): 96-108, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36209425
10.
Quantitative PCR analysis of DNA, RNAs, and proteins in the same single cell.
Clin Chem
; 58(12): 1682-91, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23014600
11.
COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation.
Neurol Genet
; 6(4): e464, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32637636
12.
Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.
J Clin Endocrinol Metab
; 105(2)2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31628455
13.
Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency.
Mitochondrion
; 47: 76-81, 2019 07.
Artigo
em Francês
| MEDLINE | ID: mdl-31059822
14.
Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile.
Eur J Hum Genet
; 27(2): 331-335, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30315213
15.
A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency.
Eur J Hum Genet
; 24(12): 1771-1777, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27485408
16.
Normal and functional TP53 in genetically stable myxoid/round cell liposarcoma.
PLoS One
; 9(11): e113110, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25393000
17.
Distinct cytoplasmic and nuclear functions of the stress induced protein DDIT3/CHOP/GADD153.
PLoS One
; 7(4): e33208, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22496745