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.
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Hum Mol Genet
; 31(4): 523-534, 2022 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34508595
3.
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.
Hum Mol Genet
; 28(22): 3805-3814, 2019 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600779
4.
Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?
Pediatr Res
; 88(4): 556-564, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32045933
5.
Hyperglucagonemia correlates with plasma levels of non-branched-chain amino acids in patients with liver disease independent of type 2 diabetes.
Am J Physiol Gastrointest Liver Physiol
; 314(1): G91-G96, 2018 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28971838
6.
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.
Am J Hum Genet
; 96(2): 258-65, 2015 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25597511
7.
SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy.
Cerebellum
; 16(1): 62-67, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26868664
8.
The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.
Scand J Clin Lab Invest
; 77(8): 617-621, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29037082
9.
Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case report.
BMC Musculoskelet Disord
; 18(1): 419, 2017 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-29052516
10.
Hearing impairment and renal failure associated with RMND1 mutations.
Am J Med Genet A
; 170A(1): 142-7, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26395190
11.
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
J Inherit Metab Dis
; 39(2): 243-52, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26475597
12.
Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.
J Med Genet
; 52(3): 203-7, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604084
13.
The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes.
Hum Mol Genet
; 22(11): 2141-51, 2013 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23418307
14.
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
Am J Hum Genet
; 87(1): 115-22, 2010 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20598281
15.
Correction: Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.
PLoS One
; 18(6): e0287268, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37289787
16.
Biomarkers of mitochondrial content in skeletal muscle of healthy young human subjects.
J Physiol
; 590(14): 3349-60, 2012 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22586215
17.
Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome.
J Med Genet
; 48(11): 737-40, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21617257
18.
The impact of metabolic supply lines - and the patterns between them - on the development of distant metastases in 64 women with breast cancer.
Oncol Lett
; 24(3): 327, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35966346
19.
ß-Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy.
JIMD Rep
; 63(6): 540-545, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36341176
20.
Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.
PLoS One
; 17(11): e0277767, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36383556