Detalhe da pesquisa
1.
Monitoring mitochondrial translation in living cells.
EMBO Rep
; 22(4): e51635, 2021 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33586863
2.
m.4216 T > C polymorphism in JT cluster determines a lower pregnancy rate in response to controlled ovarian stimulation treatment.
J Assist Reprod Genet
; 40(3): 671-682, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36701026
3.
Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation.
Clin Genet
; 102(4): 339-344, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35808913
4.
Mitochondrial Genetic Background May Impact Statins Side Effects and Atherosclerosis Development in Familial Hypercholesterolemia.
Int J Mol Sci
; 24(1)2022 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36613915
5.
Pathological Features in Paediatric Patients with TK2 Deficiency.
Int J Mol Sci
; 23(19)2022 Sep 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36232299
6.
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases.
Clin Chem
; 67(8): 1113-1121, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34352085
7.
Variants Ala307Ala and Ser680Ser of 307 and 680 FSHr polymorphisms negatively influence on assisted reproductive techniques outcome and determine high probability of non-pregnancy in Caucasian patients.
J Assist Reprod Genet
; 38(10): 2769-2779, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34346002
8.
Infectious stress triggers a POLG-related mitochondrial disease.
Neurogenetics
; 21(1): 19-27, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31655921
9.
Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy.
Hum Mol Genet
; 27(23): 4135-4144, 2018 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30452684
10.
Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis.
Clin Genet
; 97(5): 731-735, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31912494
11.
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
Brain
; 142(1): 50-58, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30576410
12.
Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome.
Int J Mol Sci
; 21(9)2020 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32397676
13.
Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.
Mol Genet Metab
; 126(3): 250-258, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30642748
14.
Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family.
Brain
; 141(1): 55-62, 2018 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29182774
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.
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.
J Inherit Metab Dis
; 41(6): 1147-1158, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29974349
17.
Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders.
Dev Med Child Neurol
; 60(8): 780-792, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29577258
18.
Machine learning classifier for identification of damaging missense mutations exclusive to human mitochondrial DNA-encoded polypeptides.
BMC Bioinformatics
; 18(1): 158, 2017 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28270093
19.
Expanding the clinical phenotypes of MT-ATP6 mutations.
Hum Mol Genet
; 23(23): 6191-200, 2014 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24986921
20.
Mitochondrial DNA disturbances and deregulated expression of oxidative phosphorylation and mitochondrial fusion proteins in sporadic inclusion body myositis.
Clin Sci (Lond)
; 130(19): 1741-51, 2016 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27413019