Detalhe da pesquisa
1.
Multiple pathways coordinate assembly of human mitochondrial complex IV and stabilization of respiratory supercomplexes.
EMBO J
; 39(14): e103912, 2020 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32511785
2.
Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation.
Neuroradiology
; 66(3): 389-398, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38114794
3.
High-dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.
Eur J Neurol
; 30(2): 538-547, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36334048
4.
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene.
Int J Mol Sci
; 24(2)2023 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36675256
5.
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.
Neuropathol Appl Neurobiol
; 48(5): e12817, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35342985
6.
Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis.
Int J Mol Sci
; 23(9)2022 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35563042
7.
Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.
J Med Genet
; 57(9): 643-646, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32161153
8.
Plasma Gelsolin Reinforces the Diagnostic Value of FGF-21 and GDF-15 for Mitochondrial Disorders.
Int J Mol Sci
; 22(12)2021 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34203775
9.
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.
Mol Genet Metab
; 131(3): 349-357, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33153867
10.
Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation.
Mol Genet Metab
; 131(3): 341-348, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33093004
11.
Reduction of ureteral stent encrustation by modulating the urine pH and inhibiting the crystal film with a new oral composition: a multicenter, placebo controlled, double blind, randomized clinical trial.
BMC Urol
; 20(1): 65, 2020 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32503502
12.
Mitochondrial Dysfunction and Calcium Dysregulation in Leigh Syndrome Induced Pluripotent Stem Cell Derived Neurons.
Int J Mol Sci
; 21(9)2020 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32366037
13.
Respiratory chain enzyme deficiency induces mitochondrial location of actin-binding gelsolin to modulate the oligomerization of VDAC complexes and cell survival.
Hum Mol Genet
; 26(13): 2493-2506, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28431142
14.
Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities.
Mol Genet Metab
; 128(4): 452-462, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31727539
15.
Retrospective natural history of thymidine kinase 2 deficiency.
J Med Genet
; 55(8): 515-521, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29602790
16.
Pain neuroscience education and physical exercise for patients with chronic spinal pain in primary healthcare: a randomised trial protocol.
BMC Musculoskelet Disord
; 20(1): 505, 2019 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31679512
17.
Missense mutations have unexpected consequences: The McArdle disease paradigm.
Hum Mutat
; 39(10): 1338-1343, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30011114
18.
Muscle molecular adaptations to endurance exercise training are conditioned by glycogen availability: a proteomics-based analysis in the McArdle mouse model.
J Physiol
; 596(6): 1035-1061, 2018 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29315579
19.
A novel MLIP truncating variant in an 80-year-old patient with late-onset progressive weakness.
Brain
; 145(10): e99-e102, 2022 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35915960
20.
Role of FAST Kinase Domains 3 (FASTKD3) in Post-transcriptional Regulation of Mitochondrial Gene Expression.
J Biol Chem
; 291(50): 25877-25887, 2016 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27789713