Detalhe da pesquisa
1.
Mitochondrial aminoacyl-tRNA synthetases trigger unique compensatory mechanisms in neurons.
Hum Mol Genet
; 33(5): 435-447, 2024 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37975900
2.
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
EMBO J
; 39(23): e105364, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33128823
3.
Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2.
Acta Neuropathol
; 147(1): 19, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38240888
4.
Molecular mechanisms in chloroquine-exposed muscle cells elucidated by combined proteomic and microscopic studies.
Neuropathol Appl Neurobiol
; 49(1): e12877, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36633103
5.
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.
Brain
; 145(11): 3999-4015, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148379
6.
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Brain
; 145(4): 1507-1518, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34791078
7.
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
Brain
; 144(8): 2427-2442, 2021 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33792664
8.
GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.
Hum Mol Genet
; 27(18): 3218-3232, 2018 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29905857
9.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Am J Hum Genet
; 100(3): 523-536, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190456
10.
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
J Inherit Metab Dis
; 43(2): 297-308, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31339582
11.
SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human.
Neurobiol Dis
; 124: 218-229, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30468864
12.
JAK inhibitor improves type I interferon induced damage: proof of concept in dermatomyositis.
Brain
; 141(6): 1609-1621, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29741608
13.
The Reaction of Oxy Hemoglobin with Nitrite: Mechanism, Antioxidant-Modulated Effect, and Implications for Blood Substitute Evaluation.
Molecules
; 23(2)2018 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29414908
14.
Involvement of ferryl in the reaction between nitrite and the oxy forms of globins.
J Biol Inorg Chem
; 19(7): 1233-9, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25064750
15.
Oxidative protection of hemoglobin and hemerythrin by cross-linking with a nonheme iron peroxidase: potentially improved oxygen carriers for use in blood substitutes.
Biomacromolecules
; 15(5): 1920-7, 2014 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-24716617
16.
Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1.
J Neurol
; 270(6): 3138-3158, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36892629
17.
Dysregulation of GSK3ß-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients.
J Neuromuscul Dis
; 8(4): 603-619, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33682722
18.
Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone DNAJC3.
Front Cell Dev Biol
; 9: 710247, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34692675
19.
Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease.
iScience
; 24(1): 101948, 2021 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33458610
20.
Immunofluorescence-Based Analysis of Caveolin-3 in the Diagnostic Management of Neuromuscular Diseases.
Methods Mol Biol
; 2169: 197-216, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32548831