Detalhe da pesquisa
1.
CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.
J Inherit Metab Dis
; 46(6): 1029-1042, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37718653
2.
Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.
Int J Mol Sci
; 24(15)2023 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37569695
3.
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat
; 43(3): 403-419, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34989426
4.
Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency.
Int J Mol Sci
; 23(20)2022 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36293220
5.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
J Inherit Metab Dis
; 44(2): 401-414, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32677093
6.
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
J Inherit Metab Dis
; 44(1): 148-163, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681750
7.
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.
Mol Genet Metab
; 131(3): 349-357, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33153867
8.
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
J Inherit Metab Dis
; 43(2): 297-308, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31339582
9.
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.
Hum Mutat
; 40(10): 1700-1712, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31058414
10.
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.
Hum Mutat
; 38(2): 148-151, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862579
11.
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.
Hum Mol Genet
; 23(7): 1907-15, 2014 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24256811
12.
Differential diagnosis of lipoic acid synthesis defects.
J Inherit Metab Dis
; 39(6): 781-793, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27586888
13.
A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.
Am J Hum Genet
; 89(5): 656-67, 2011 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22077971
14.
Lipoic acid biosynthesis defects.
J Inherit Metab Dis
; 37(4): 553-63, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24777537
15.
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.
Mol Genet Metab
; 110(1-2): 73-7, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23707711
16.
FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts.
Clin Genet
; 94(6): 592-593, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30427553
17.
Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.
J Inherit Metab Dis
; 36(5): 841-7, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23179554
18.
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
Brain Pathol
; 33(3): e13134, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36450274
19.
Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.
Mol Genet Metab
; 107(3): 409-15, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22980518
20.
Oncogene-induced senescence is part of the tumorigenesis barrier imposed by DNA damage checkpoints.
Nature
; 444(7119): 633-7, 2006 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-17136093