Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome K Thompson, H Majd, C Dallabona, K Reinson, MS King, CL Alston, L He, ... The American Journal of Human Genetics 99, 860-876, 2016 | 147* | 2016 |
Berberine as a promising safe anti-cancer agent-is there a role for mitochondria? C V Diogo, N G Machado, I A Barbosa, T L Serafim, A Burgeiro, ... Current drug targets 12 (6), 850-859, 2011 | 134 | 2011 |
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number K Thompson, H Majd, C Dallabona, K Reinson, MS King, CL Alston, L He, ... The American Journal of Human Genetics 99 (4), 860-876, 2016 | 129 | 2016 |
Mitochondrial metabolism directs stemness and differentiation in P19 embryonal carcinoma stem cells I Vega-Naredo, R Loureiro, KA Mesquita, IA Barbosa, LC Tavares, ... Cell death and differentiation 21 (10), 1560, 2014 | 112 | 2014 |
Mitochondrial remodeling in cancer metabolism and survival: potential for new therapies IA Barbosa, NG Machado, AJ Skildum, PM Scott, PJ Oliveira Biochimica et Biophysica Acta (BBA)-Reviews on Cancer 1826 (1), 238-254, 2012 | 107 | 2012 |
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population M Oláhová, SA Hardy, J Hall, JW Yarham, TB Haack, WC Wilson, ... Brain 138 (12), 3503-3519, 2015 | 106 | 2015 |
Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset KJ Billingsley, IA Barbosa, S Bandrés-Ciga, JP Quinn, VJ Bubb, ... npj Parkinson's Disease 5 (1), 1-9, 2019 | 100 | 2019 |
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans JJ Collier, C Guissart, M Oláhová, S Sasorith, F Piron-Prunier, F Suomi, ... New England Journal of Medicine 384 (25), 2406-2417, 2021 | 99 | 2021 |
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder M Oláhová, WH Yoon, K Thompson, S Jangam, L Fernandez, ... The American Journal of Human Genetics 102 (3), 494-504, 2018 | 72 | 2018 |
Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease M Vergnano, M Mockenhaupt, N Benzian-Olsson, M Paulmann, K Grys, ... The American Journal of Human Genetics 107 (3), 539-543, 2020 | 53 | 2020 |
Cardiac cytochrome c and cardiolipin depletion during anthracycline-induced chronic depression of mitochondrial function GC Pereira, SP Pereira, LC Tavares, FS Carvalho, S Magalhães-Novais, ... Mitochondrion 30, 95-104, 2016 | 46 | 2016 |
Mitochondrial toxicity of the phyotochemicals daphnetoxin and daphnoretin–Relevance for possible anti-cancer application CV Diogo, L Félix, S Vilela, A Burgeiro, IA Barbosa, MJM Carvalho, ... Toxicology in Vitro 23 (5), 772-779, 2009 | 43 | 2009 |
Melatonin antiproliferative effects require active mitochondrial function in embryonal carcinoma cells R Loureiro, S Magalhães-Novais, KA Mesquita, I Baldeiras, IS Sousa, ... Oncotarget 6 (19), 17081, 2015 | 34 | 2015 |
Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults M Charif, A Nasca, K Thompson, S Gerber, C Makowski, N Mazaheri, ... JAMA neurology 75 (1), 105-113, 2018 | 30 | 2018 |
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria M Oláhová, K Thompson, SA Hardy, IA Barbosa, A Besse, ... Journal of inherited metabolic disease 40 (1), 121-130, 2017 | 30 | 2017 |
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria M Champion, K White, K Thompson, RN Lightowlers, A Besse, ... Journal of Inherited Metabolic Disease 40 (1), 2016 | 30* | 2016 |
De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity E Ladds, A Whitney, E Dombi, M Hofer, G Anand, V Harrison, C Fratter, ... Neurology Genetics 4 (4), e258, 2018 | 29 | 2018 |
Involvement of mitochondrial dysfunction in nefazodone-induced hepatotoxicity AM Silva, IA Barbosa, C Seabra, N Beltrão, R Santos, I Vega-Naredo, ... Food and Chemical Toxicology 94, 148-158, 2016 | 23 | 2016 |
TRAP 1 regulates autophagy in lung cancer cells IA Barbosa, I Vega‐Naredo, R Loureiro, AF Branco, R Garcia, PM Scott, ... European journal of clinical investigation 48 (4), e12900, 2018 | 17 | 2018 |
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits RIC Glasgow, K Thompson, IA Barbosa, L He, CL Alston, C Deshpande, ... neurogenetics 18 (4), 227-235, 2017 | 15 | 2017 |