| LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs B Ruzzenente, MD Metodiev, A Wredenberg, A Bratic, CB Park, Y Cámara, ... The EMBO journal 31 (2), 443-456, 2012 | 342 | 2012 |
| Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome MD Metodiev, N Lesko, CB Park, Y Cámara, Y Shi, R Wibom, K Hultenby, ... Cell metabolism 9 (4), 386-397, 2009 | 342 | 2009 |
| MTERF4 regulates translation by targeting the methyltransferase NSUN4 to the mammalian mitochondrial ribosome Y Cámara, J Asin-Cayuela, CB Park, MD Metodiev, Y Shi, B Ruzzenente, ... Cell metabolism 13 (5), 527-539, 2011 | 284 | 2011 |
| NSUN4 is a dual function mitochondrial protein required for both methylation of 12S rRNA and coordination of mitoribosomal assembly MD Metodiev, H Spåhr, P Loguercio Polosa, C Meharg, C Becker, ... PLoS genetics 10 (2), e1004110, 2014 | 266 | 2014 |
| Variable and Tissue-Specific Subunit Composition of Mitochondrial m-AAA Protease Complexes Linked to Hereditary Spastic Paraplegia M Koppen, MD Metodiev, G Casari, EI Rugarli, T Langer Molecular and cellular biology 27 (2), 758-767, 2007 | 223 | 2007 |
| Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy R Kopajtich, TJ Nicholls, J Rorbach, MD Metodiev, P Freisinger, H Mandel, ... The American Journal of Human Genetics 95 (6), 708-720, 2014 | 137 | 2014 |
| MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals A Wredenberg, M Lagouge, A Bratic, MD Metodiev, H Spåhr, A Mourier, ... PLoS genetics 9 (1), e1003178, 2013 | 124 | 2013 |
| Biallelic mutations in MRPS34 lead to instability of the small mitoribosomal subunit and Leigh syndrome NJ Lake, BD Webb, DA Stroud, TR Richman, B Ruzzenente, AG Compton, ... The American Journal of Human Genetics 101 (2), 239-254, 2017 | 117 | 2017 |
| Recessive mutations in TRMT10C cause defects in mitochondrial RNA processing and multiple respiratory chain deficiencies MD Metodiev, K Thompson, CL Alston, AAM Morris, L He, Z Assouline, ... The American Journal of Human Genetics 98 (5), 993-1000, 2016 | 112 | 2016 |
| A common variant in TFB1M is associated with reduced insulin secretion and increased future risk of type 2 diabetes T Koeck, AH Olsson, MD Nitert, VV Sharoyko, C Ladenvall, O Kotova, ... Cell metabolism 13 (1), 80-91, 2011 | 98 | 2011 |
| Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy MD Metodiev, S Gerber, L Hubert, A Delahodde, D Chretien, X Gérard, ... Journal of medical genetics 51 (12), 834-838, 2014 | 89 | 2014 |
| Impaired transferrin receptor palmitoylation and recycling in neurodegeneration with brain iron accumulation A Drecourt, J Babdor, M Dussiot, F Petit, N Goudin, M Garfa-Traoré, ... The American Journal of Human Genetics 102 (2), 266-277, 2018 | 79 | 2018 |
| Bi-allelic mutations in the mitochondrial ribosomal protein MRPS2 cause sensorineural hearing loss, hypoglycemia, and multiple OXPHOS complex deficiencies T Gardeitchik, M Mohamed, B Ruzzenente, D Karall, S Guerrero-Castillo, ... The American Journal of Human Genetics 102 (4), 685-695, 2018 | 69 | 2018 |
| Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes VV Sharoyko, M Abels, J Sun, LM Nicholas, IG Mollet, JA Stamenkovic, ... Human molecular genetics 23 (21), 5733-5749, 2014 | 63 | 2014 |
| Mutations in complex I assembly factor TMEM126B result in muscle weakness and isolated complex I deficiency L Sánchez-Caballero, B Ruzzenente, L Bianchi, Z Assouline, G Barcia, ... The American Journal of Human Genetics 99 (1), 208-216, 2016 | 56 | 2016 |
| High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood M Collet, Z Assouline, D Bonnet, M Rio, F Iserin, D Sidi, A Goldenberg, ... European Journal of Human Genetics 24 (8), 1112-1116, 2016 | 34 | 2016 |
| Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism … J Pulman, B Ruzzenente, L Bianchi, M Rio, N Boddaert, A Munnich, ... Human Molecular Genetics 28 (9), 1445-1462, 2019 | 32 | 2019 |
| Mouse models for mitochondrial diseases B Ruzzenente, A Rötig, MD Metodiev Human Molecular Genetics 25 (R2), R115-R122, 2016 | 31 | 2016 |
| Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders R Kopajtich, D Smirnov, SL Stenton, S Loipfinger, C Meng, IF Scheller, ... MedRxiv, 2021.03. 09.21253187, 2021 | 28 | 2021 |
| High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency I de Beaurepaire, D Grévent, M Rio, I Desguerre, P de Lonlay, R Levy, ... Journal of Medical Genetics 55 (6), 378-383, 2018 | 24 | 2018 |
