Detalhe da pesquisa
1.
Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.
Hum Mol Genet
; 31(12): 2049-2062, 2022 06 22.
Artigo
Inglês
| MEDLINE | ID: mdl-35024855
2.
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.
Eur J Hum Genet
; 31(2): 148-163, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36513735
3.
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
EMBO Mol Med
; 15(5): e16775, 2023 05 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37013609
4.
Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy.
Mov Disord Clin Pract
; 9(2): 218-228, 2022 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-35141356
5.
Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa.
Mol Genet Metab Rep
; 24: 100629, 2020 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-32742935
6.
Reevaluation of the South Asian MYBPC3Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy.
Circ Genom Precis Med
; 13(3): e002783, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32163302
7.
Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice.
J Clin Med
; 6(8)2017 Aug 21.
Artigo
Inglês
| MEDLINE | ID: mdl-28825656
8.
Alternative RNA splicing complexes containing the scaffold attachment factor SAFB2.
J Cell Sci
; 120(Pt 2): 309-19, 2007 Jan 15.
Artigo
Inglês
| MEDLINE | ID: mdl-17200140