Detalhe da pesquisa
1.
A kinetic dichotomy between mitochondrial and nuclear gene expression processes.
Mol Cell
; 84(8): 1541-1555.e11, 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38503286
2.
Splicing Kinetics and Coordination Revealed by Direct Nascent RNA Sequencing through Nanopores.
Mol Cell
; 77(5): 985-998.e8, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31839405
3.
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
N Engl J Med
; 388(2): 128-141, 2023 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36516086
4.
Magnetic Resonance Acoustic Radiation Force Imaging (MR-ARFI) for the monitoring of High Intensity Focused Ultrasound (HIFU) ablation in anisotropic tissue.
MAGMA
; 36(5): 737-747, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36723689
5.
Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200.
J Biol Chem
; 294(18): 7445-7459, 2019 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30898877
6.
A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability.
EMBO Rep
; 18(1): 28-38, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27974379
7.
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
Brain
; 140(1): 37-48, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27816943
8.
Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia.
Neurogenetics
; 17(2): 137-41, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26915362
9.
A Molecular Diagnosis of LGMDR1 Established by RNA Sequencing.
Can J Neurol Sci
; 48(2): 293-296, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32646536
10.
A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia.
Neurogenetics
; 16(3): 233-6, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25566820
11.
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.
Am J Hum Genet
; 89(5): 652-5, 2011 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22036172
12.
Monitoring MR-guided high intensity focused ultrasound therapy using transient supersonic shear wave MR-elastography.
Phys Med Biol
; 68(3)2023 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36595333
13.
A kinetic dichotomy between mitochondrial and nuclear gene expression drives OXPHOS biogenesis.
bioRxiv
; 2023 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36824735
14.
Genome-wide screens for mitonuclear co-regulators uncover links between compartmentalized metabolism and mitochondrial gene expression.
bioRxiv
; 2023 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36798306
15.
Pre-mRNA splicing order is predetermined and maintains splicing fidelity across multi-intronic transcripts.
Nat Struct Mol Biol
; 30(8): 1064-1076, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37443198
16.
Regulators of mitonuclear balance link mitochondrial metabolism to mtDNA expression.
Nat Cell Biol
; 25(11): 1575-1589, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37770567
17.
Intronic small nucleolar RNAs regulate host gene splicing through base pairing with their adjacent intronic sequences.
Genome Biol
; 24(1): 160, 2023 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37415181
18.
RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.
medRxiv
; 2023 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36945604
19.
RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.
Dev Cell
; 58(20): 2112-2127.e4, 2023 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586368
20.
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
Brain
; 139(Pt 3): e19, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26657514