Detalhe da pesquisa
1.
A mitochondria-specific mutational signature of aging: increased rate of A > G substitutions on the heavy strand.
Nucleic Acids Res
; 50(18): 10264-10277, 2022 10 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130228
2.
Secondary structure of the human mitochondrial genome affects formation of deletions.
BMC Biol
; 21(1): 103, 2023 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37158879
3.
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
Brain
; 145(7): 2313-2331, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35786744
4.
A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam.
Epilepsia
; 63(6): 1563-1570, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35298028
5.
Cytosolic, but not matrix, calcium is essential for adjustment of mitochondrial pyruvate supply.
J Biol Chem
; 295(14): 4383-4397, 2020 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32094224
6.
Molecular and Functional Effects of Loss of Cytochrome c Oxidase Subunit 8A.
Biochemistry (Mosc)
; 86(1): 33-43, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33705280
7.
Testing association of rare genetic variants with resistance to three common antiseizure medications.
Epilepsia
; 61(4): 657-666, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32141622
8.
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.
Am J Hum Genet
; 99(1): 188-94, 2016 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27292112
9.
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.
Epilepsia
; 60(5): e31-e36, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30719712
10.
Peripheral nerve atrophy together with higher cerebrospinal fluid progranulin indicate axonal damage in amyotrophic lateral sclerosis.
Muscle Nerve
; 57(2): 273-278, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28472860
11.
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.
PLoS Genet
; 11(5): e1005226, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25950944
12.
Mitochondrial BK Channel Openers CGS7181 and CGS7184 Exhibit Cytotoxic Properties.
Int J Mol Sci
; 19(2)2018 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-29370072
13.
Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis.
Epilepsia
; 58(10): 1734-1741, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28857179
14.
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
Brain
; 139(Pt 2): 338-45, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26685157
15.
Guide to the Pharmacology of Mitochondrial Potassium Channels.
Handb Exp Pharmacol
; 240: 103-127, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27838853
16.
Quasi-Mendelian paternal inheritance of mitochondrial DNA: A notorious artifact, or anticipated behavior?
Proc Natl Acad Sci U S A
; 116(30): 14797-14798, 2019 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31311874
17.
Loss of UCP2 attenuates mitochondrial dysfunction without altering ROS production and uncoupling activity.
PLoS Genet
; 10(6): e1004385, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24945157
18.
Metabolic Epilepsies-Commemorative Issue in Honor of Professor Uwe Heinemann.
Int J Mol Sci
; 18(11)2017 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29165369
19.
Mitochondrial Liver Toxicity of Valproic Acid and Its Acid Derivatives Is Related to Inhibition of α-Lipoamide Dehydrogenase.
Int J Mol Sci
; 18(9)2017 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28878165
20.
Reply to Rutter et al.: The roles of cytosolic and intramitochondrial Ca2+ and the mitochondrial Ca2+-uniporter (MCU) in the stimulation of mammalian oxidative phosphorylation.
J Biol Chem
; 295(30): 10507, 2020 07 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32709761