Detalhe da pesquisa
1.
Strategic validation of variants of uncertain significance in ECHS1 genetic testing.
J Med Genet
; 60(10): 1006-1015, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37055166
2.
Novel ITPA variants identified by whole genome sequencing and RNA sequencing.
J Hum Genet
; 68(9): 649-652, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37246162
3.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 111(5): 996, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38701747
4.
A Case of Infantile Mitochondrial Cardiomyopathy Treated with a Combination of Low-Dose Propranolol and Cibenzoline for Left Ventricular Outflow Tract Stenosis.
Int Heart J
; 63(5): 970-977, 2022 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36104228
5.
Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2.
Hum Mutat
; 42(11): 1422-1428, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405929
6.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 103(2): 221-231, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30057030
7.
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.
Am J Hum Genet
; 101(4): 525-538, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942965
8.
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.
Clin Genet
; 98(2): 155-165, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32385911
9.
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
J Inherit Metab Dis
; 43(4): 819-826, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31967322
10.
A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes.
BMC Nephrol
; 21(1): 376, 2020 08 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32859164
11.
Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease.
Nucleic Acids Res
; 46(4): 1565-1583, 2018 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-29390138
12.
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.
Neurogenetics
; 20(1): 9-25, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30607703
13.
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
PLoS Genet
; 12(1): e1005679, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26741492
14.
MSH1 maintains organelle genome stability and genetically interacts with RECA and RECG in the moss Physcomitrella patens.
Plant J
; 91(3): 455-465, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28407383
15.
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
Am J Hum Genet
; 97(5): 761-8, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26522469
16.
Barth Syndrome: Different Approaches to Diagnosis.
J Pediatr
; 193: 256-260, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29249525
17.
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
Am J Hum Genet
; 95(6): 708-20, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25434004
18.
A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy.
J Hum Genet
; 62(5): 539-547, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28123175
19.
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
J Inherit Metab Dis
; 40(5): 685-693, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28429146
20.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 103(3): 456, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30193137