Detalhe da pesquisa
1.
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
Am J Hum Genet
; 106(2): 256-263, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32004446
2.
Advances in methods to analyse cardiolipin and their clinical applications.
Trends Analyt Chem
; 157: 116808, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36751553
3.
Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies.
Brain
; 144(8): 2443-2456, 2021 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33734312
4.
Expression of mutant exon 1 huntingtin fragments in human neural stem cells and neurons causes inclusion formation and mitochondrial dysfunction.
FASEB J
; 34(6): 8139-8154, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32329133
5.
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Ann Neurol
; 86(2): 225-240, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31187503
6.
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Mov Disord
; 35(8): 1357-1368, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32472658
7.
Inhibition of Mitochondrial Complex I Impairs Release of α-Galactosidase by Jurkat Cells.
Int J Mol Sci
; 20(18)2019 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31491876
8.
Integrated Approach Reveals Role of Mitochondrial Germ-Line Mutation F18L in Respiratory Chain, Oxidative Alterations, Drug Sensitivity, and Patient Prognosis in Glioblastoma.
Int J Mol Sci
; 20(13)2019 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31323957
9.
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Brain
; 140(6): 1595-1610, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28549128
10.
The novel R347g pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency.
Biochim Biophys Acta
; 1864(6): 676-682, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26994895
11.
An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.
Anal Chem
; 89(17): 8892-8900, 2017 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28782931
12.
An examination of biochemical parameters and their association with response to ketogenic dietary therapies.
Epilepsia
; 58(5): 893-900, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28369834
13.
Neuronal decanoic acid oxidation is markedly lower than that of octanoic acid: A mechanistic insight into the medium-chain triglyceride ketogenic diet.
Epilepsia
; 58(8): 1423-1429, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28682459
14.
The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome.
J Inherit Metab Dis
; 39(3): 415-426, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27080638
15.
Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype.
J Inherit Metab Dis
; 38(2): 279-86, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25112388
16.
The ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cells.
J Neurochem
; 129(3): 426-33, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24383952
17.
Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains.
Ann Neurol
; 72(3): 455-63, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23034917
18.
Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method.
J Inherit Metab Dis
; 36(1): 139-45, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22576361
19.
Human neuronal coenzyme Q10 deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: implications for pathogenesis and treatment.
J Inherit Metab Dis
; 36(1): 63-73, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22767283
20.
Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis.
J Inherit Metab Dis
; 36(5): 741-6, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23109063