| P50 | author | Silvia Marchet | Q58242359 |
| | Ivano Di Meo | Q58930610 |
| | Carlo Viscomi | Q88626006 |
| P2093 | author name string | M Zeviani | |
| | C Lamperti | |
| P2860 | cites work | Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activity | Q85030067 |
| | The first nuclear-encoded complex I mutation in a patient with Leigh syndrome | Q22008460 |
| | A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome | Q24290836 |
| | Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I | Q24307521 |
| | Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy | Q30484862 |
| | Atomic structure of the entire mammalian mitochondrial complex I. | Q30832310 |
| | Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder | Q33600939 |
| | Systemic gene delivery to the central nervous system using Adeno-associated virus | Q33695674 |
| | Delivery of therapeutic agents through intracerebroventricular (ICV) and intravenous (IV) injection in mice | Q34223131 |
| | Retro-orbital injections in mice. | Q35171751 |
| | Fatal breathing dysfunction in a mouse model of Leigh syndrome | Q36070987 |
| | Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy | Q36379525 |
| | Improved survival and reduced phenotypic severity following AAV9/MECP2 gene transfer to neonatal and juvenile male Mecp2 knockout mice. | Q36507871 |
| | Cre-dependent selection yields AAV variants for widespread gene transfer to the adult brain | Q37382030 |
| | Leigh map: A novel computational diagnostic resource for mitochondrial disease | Q37696444 |
| | Present and future of adeno associated virus based gene therapy approaches | Q37977524 |
| | Viral vector-mediated gene therapies | Q38564564 |
| | Ndufs4 related Leigh syndrome: A case report and review of the literature. | Q38808445 |
| | Mammalian complex I: a regulable and vulnerable pacemaker in mitochondrial respiratory function | Q39985545 |
| | Structure of mammalian respiratory complex I | Q41121933 |
| | Architecture of mammalian respiratory complex I. | Q41607512 |
| | Late-onset corticohippocampal neurodepletion attributable to catastrophic failure of oxidative phosphorylation in MILON mice. | Q43757469 |
| | Isolation of biogenetically competent mitochondria from mammalian tissues and cultured cells | Q44021171 |
| | Clinical and molecular findings in children with complex I deficiency | Q45171157 |
| | Global gene transfer into the CNS across the BBB after neonatal systemic delivery of single-stranded AAV vectors | Q45417215 |
| | A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family | Q45817648 |
| | Intravenous administration of AAV2/9 to the fetal and neonatal mouse leads to differential targeting of CNS cell types and extensive transduction of the nervous system. | Q45871699 |
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P433 | issue | 10 | |
| P921 | main subject | phenotype | Q104053 |
| | gene therapy | Q213901 |
| P304 | page(s) | 661-667 | |
| P577 | publication date | 2017-07-27 | |
| P1433 | published in | Gene Therapy | Q15763095 |
| P1476 | title | AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome | |
| P478 | volume | 24 | |