Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
Brain
; 136(Pt 10): 3140-50, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24014518
5.
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.
Nat Genet
; 33(4): 527-32, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12612585
6.
Loss of the Immunomodulatory Transcription Factor BATF2 in Humans Is Associated with a Neurological Phenotype.
Cells
; 12(2)2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672163
7.
POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts.
Biochim Biophys Acta
; 1812(3): 321-5, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21138766
8.
Large Phenotypic Variation of Individuals from a Family with a Novel ASPM Mutation Associated with Microcephaly, Epilepsy, and Behavioral and Cognitive Deficits.
Genes (Basel)
; 13(3)2022 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35327983
9.
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
Brain
; 133(Pt 1): 23-32, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19843651
10.
Distinct patterns of mitochondrial genome diversity in bonobos (Pan paniscus) and humans.
BMC Evol Biol
; 10: 270, 2010 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-20813043
11.
Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy.
Epilepsia Open
; 2(3): 334-342, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29588962
12.
Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet?
Epilepsy Res
; 114: 47-51, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26088884
13.
A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.
Arch Neurol
; 59(7): 1137-41, 2002 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12117362
14.
A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy.
Neurology
; 83(23): 2183-7, 2014 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25361775
15.
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.
Nat Genet
; 45(2): 214-9, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23313956
16.
Retraction: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.
Nat Genet
; 41(9): 1043, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19710717
17.
CLCN2 variants in idiopathic generalized epilepsy.
Nat Genet
; 41(9): 954-5, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19710712