Analysis of the assembly profiles for mitochondrial-and nuclear-DNA-encoded subunits into complex I M Lazarou, M McKenzie, A Ohtake, DR Thorburn, MT Ryan Molecular and cellular biology 27 (12), 4228-4237, 2007 | 293 | 2007 |
A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies M Kohda, Y Tokuzawa, Y Kishita, H Nyuzuki, Y Moriyama, Y Mizuno, ... PLoS genetics 12 (1), e1005679, 2016 | 287 | 2016 |
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency DM Kirby, R Salemi, C Sugiana, A Ohtake, L Parry, KM Bell, EP Kirk, ... The Journal of clinical investigation 114 (6), 837-845, 2004 | 229 | 2004 |
Mutations of the mitochondrial ND1 gene as a cause of MELAS DM Kirby, R McFarland, A Ohtake, C Dunning, MT Ryan, C Wilson, ... Journal of medical genetics 41 (10), 784-789, 2004 | 210 | 2004 |
Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva T Fukuda, M Kohda, K Kanomata, J Nojima, A Nakamura, J Kamizono, ... Journal of Biological Chemistry 284 (11), 7149-7156, 2009 | 207 | 2009 |
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency R McFarland, DM Kirby, KJ Fowler, A Ohtake, MT Ryan, DJ Amor, ... Annals of Neurology: Official Journal of the American Neurological …, 2004 | 190 | 2004 |
Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease DM Kirby, A Boneh, CW Chow, A Ohtake, MT Ryan, D Thyagarajan, ... Annals of Neurology: Official Journal of the American Neurological …, 2003 | 139 | 2003 |
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 |
Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders DR Thorburn, C Sugiana, R Salemi, DM Kirby, L Worgan, A Ohtake, ... Biochimica et Biophysica Acta (BBA)-Bioenergetics 1659 (2-3), 121-128, 2004 | 134 | 2004 |
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism R Desai, AE Frazier, R Durigon, H Patel, AW Jones, I Dalla Rosa, NJ Lake, ... Brain 140 (6), 1595-1610, 2017 | 129 | 2017 |
Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease K Asano, T Suzuki, A Saito, FY Wei, Y Ikeuchi, T Numata, R Tanaka, ... Nucleic acids research 46 (4), 1565-1583, 2018 | 119 | 2018 |
OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary T Tajima, A Ohtake, M Hoshino, S Amemiya, N Sasaki, K Ishizu, K Fujieda The Journal of Clinical Endocrinology & Metabolism 94 (1), 314-319, 2009 | 112 | 2009 |
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency G Brea-Calvo, TB Haack, D Karall, A Ohtake, F Invernizzi, R Carrozzo, ... The American Journal of Human Genetics 96 (2), 309-317, 2015 | 111 | 2015 |
Deficiency of ECHS 1 causes mitochondrial encephalopathy with cardiac involvement TB Haack, CB Jackson, K Murayama, LS Kremer, A Schaller, ... Annals of clinical and translational neurology 2 (5), 492-509, 2015 | 108 | 2015 |
Clinical implementation of RNA sequencing for Mendelian disease diagnostics VA Yépez, M Gusic, R Kopajtich, C Mertes, NH Smith, CL Alston, R Ban, ... Genome medicine 14 (1), 38, 2022 | 97 | 2022 |
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients E Ogawa, M Shimura, T Fushimi, M Tajika, K Ichimoto, A Matsunaga, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2017 | 93 | 2017 |
Induction of protective immunity to cryptococcal infection in mice by a heat-killed, chitosan-deficient strain of Cryptococcus neoformans R Upadhya, WC Lam, B Maybruck, CA Specht, SM Levitz, JK Lodge MBio 7 (3), 10.1128/mbio. 00547-16, 2016 | 93 | 2016 |
A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant,“Osaka,” in Asians Y Okano, M Asada, A Fujimoto, A Ohtake, K Murayama, KJ Hsiao, ... The American Journal of Human Genetics 68 (4), 1036-1042, 2001 | 93 | 2001 |
Guidance for pediatric familial hypercholesterolemia 2017 M Harada-Shiba, T Ohta, A Ohtake, M Ogura, K Dobashi, A Nohara, ... Journal of Atherosclerosis and Thrombosis 25 (6), 539-553, 2018 | 84 | 2018 |
Biallelic IARS mutations cause growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and infantile hepatopathy R Kopajtich, K Murayama, AR Janecke, TB Haack, M Breuer, AS Knisely, ... The American Journal of Human Genetics 99 (2), 414-422, 2016 | 84 | 2016 |