Detalhe da pesquisa
1.
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
2.
Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.
Mol Genet Metab
; 142(3): 108508, 2024 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38820906
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology.
J Biol Chem
; 294(14): 5386-5395, 2019 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29233888
11.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Am J Hum Genet
; 101(2): 239-254, 2017 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777931
12.
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Genet Med
; 22(7): 1254-1261, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32313153
13.
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.
Hum Mutat
; 40(7): 893-898, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30981218
14.
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
Am J Hum Genet
; 99(1): 217-27, 2016 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27374774
15.
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.
Mol Genet Metab
; 126(1): 77-82, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30558828
16.
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
17.
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.
Hum Mol Genet
; 24(7): 2000-10, 2015 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25504045
18.
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
Am J Hum Genet
; 94(2): 209-22, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24462369
19.
Leigh syndrome: One disorder, more than 75 monogenic causes.
Ann Neurol
; 79(2): 190-203, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26506407
20.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Am J Hum Genet
; 102(4): 713, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29625026