Detalhe da pesquisa
1.
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
Am J Hum Genet;
110(3): 419-426, 2023 03 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36868206
2.
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Hum Mol Genet;
32(15): 2441-2454, 2023 07 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37133451
3.
Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex.
Mol Cell;
67(3): 457-470.e5, 2017 Aug 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28712726
4.
Sideroflexin 4 is a complex I assembly factor that interacts with the MCIA complex and is required for the assembly of the ND2 module.
Proc Natl Acad Sci U S A;
119(13): e2115566119, 2022 03 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35333655
5.
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.
Hum Mol Genet;
31(21): 3597-3612, 2022 10 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35147173
6.
Mitochondrial disease in New Zealand: a nationwide prevalence study.
Intern Med J;
54(3): 388-397, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37732891
7.
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.
Hum Genet;
142(7): 879-907, 2023 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37148394
8.
A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.
Am J Med Genet A;
191(6): 1599-1606, 2023 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36896486
9.
A mitochondrial protein compendium elucidates complex I disease biology.
Cell;
134(1): 112-23, 2008 Jul 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18614015
10.
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.
J Med Genet;
59(8): 748-758, 2022 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34740920
11.
Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.
Hum Mutat;
43(12): 1970-1978, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36030551
12.
Accessory subunits are integral for assembly and function of human mitochondrial complex I.
Nature;
538(7623): 123-126, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27626371
13.
HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV.
Mol Cell Proteomics;
19(7): 1145-1160, 2020 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32317297
14.
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.
Int J Mol Sci;
23(2)2022 Jan 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35055180
15.
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.
Hum Mutat;
42(1): 19-24, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33169436
16.
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.
Hum Mutat;
42(2): 135-141, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33169484
17.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Genet Med;
23(12): 2415-2425, 2021 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34400813
18.
Biallelic IARS2 mutations presenting as sideroblastic anemia.
Haematologica;
106(4): 1220-1225, 2021 Apr 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33327715
19.
Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned?
Int J Mol Sci;
22(14)2021 Jul 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34299348
20.
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
Hum Mutat;
41(8): 1425-1434, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32442335