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.
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.
J Inherit Metab Dis
; 2023 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38044746
3.
Operation Moonshot: rapid translation of a SARS-CoV-2 targeted peptide immunoaffinity liquid chromatography-tandem mass spectrometry test from research into routine clinical use.
Clin Chem Lab Med
; 61(2): 302-310, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36395058
4.
Advances in methods to analyse cardiolipin and their clinical applications.
Trends Analyt Chem
; 157: 116808, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36751553
5.
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
6.
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
7.
Protective effects of medium chain triglyceride diet in a mouse model of Dravet syndrome.
Epilepsia
; 62(12): 3131-3142, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34713469
8.
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
9.
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Mov Disord
; 35(8): 1357-1368, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32472658
10.
Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non-ketotic hyperglycinemia.
J Inherit Metab Dis
; 43(6): 1186-1198, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32743799
11.
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.
Am J Hum Genet
; 99(6): 1325-1337, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27912044
12.
Cerebral folate deficiency: Analytical tests and differential diagnosis.
J Inherit Metab Dis
; 42(4): 655-672, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30916789
13.
Assessment of Mitochondrial Dysfunction in Experimental Autoimmune Encephalomyelitis (EAE) Models of Multiple Sclerosis.
Int J Mol Sci
; 20(20)2019 Oct 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600882
14.
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
15.
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
16.
CNS Langerhans cell histiocytosis: Common hematopoietic origin for LCH-associated neurodegeneration and mass lesions.
Cancer
; 124(12): 2607-2620, 2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29624648
17.
Impact of sphingolipids on osteoblast and osteoclast activity in Gaucher disease.
Mol Genet Metab
; 124(4): 278-286, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29934064
18.
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
Brain
; 140(11): 2820-2837, 2017 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29053833
19.
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
20.
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