| Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism J Lindqvist, W Ma, F Li, Y Hernandez, J Kolb, B Kiss, P Tonino, ... Nature communications 11 (1), 2699, 2020 | 14 | 2020 |
| Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing E Karimi, F Mahmoudian, SOL Reyes, UA Bargir, M Madkaikar, H Artac, ... Molecular Immunology 137, 57-66, 2021 | 12 | 2021 |
| In Silico and Experimental Characterization of Chimeric Bacillus thermocatenulatus Lipase with the Complete Conserved Pentapeptide of Candida rugosa Lipase M Hosseini, AA Karkhane, B Yakhchali, M Shamsara, S Aminzadeh, ... Applied biochemistry and biotechnology 169, 773-785, 2013 | 12 | 2013 |
| Omecamtiv mecarbil lowers the contractile deficit in a mouse model of nebulin-based nemaline myopathy J Lindqvist, EJ Lee, E Karimi, J Kolb, H Granzier PLoS One 14 (11), e0224467, 2019 | 11 | 2019 |
| Study of the effect of F17A mutation on characteristics of Bacillus thermocatenulatus lipase expressed in Pichia pastoris using in silico and experimental methods E Karimi, AA Karkhane, B Yakhchali, M Shamsara, S Aminzadeh, ... Biotechnology and Applied Biochemistry 61 (3), 264-273, 2014 | 5 | 2014 |
| Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy L Fabian, E Karimi, GP Farman, J Gohlke, CAC Ottenheijm, HL Granzier, ... Human Molecular Genetics 33 (12), 1036-1054, 2024 | | 2024 |
| Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects E Karimi, J Gohlke, M van der Borgh, J Lindqvist, Z Hourani, J Kolb, ... Acta Neuropathologica 147 (1), 72, 2024 | | 2024 |
| The extrinsic and genetic contributions to disease heterogeneity in rhabdomyolysis E Karim, S Nazeen, B Tao, H Granzier, S Sunyaev, V Gupta MDA conference, https://www.mdaconference.org/abstract-library/the-extrinsic …, 2024 | | 2024 |
| Exploring Genetic Mechanisms in Nebulin-Based Nemaline Myopathy and Rhabdomyolysis E Karimi The University of Arizona., 2024 | | 2024 |
| Characterization of NEB mutations in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects E Karimi, M van der Borgh, J Lindqvist, J Gohlke, Z Hourani, J Kolb, ... bioRxiv preprint doi: https://doi.org/10.1101, 2023 | | 2023 |
| FP. 01 Novel disease pathways and therapeutic developments in Kelch-related congenital nemaline myopathy A Mansur, J Casey, R Joseph, J Shi, E Karimi, B Tao, H Granzier, V Gupta Neuromuscular Disorders 32, S44, 2022 | | 2022 |
| Mutations in the Large Protein Nebulin Trigger Typical Nemaline Myopathy with a Unique Molecular Mechanism J Lindqvist, W Ma, Y Hernandez, FW Li, J Kolb, P Tonino, B Kiss, ... Biophysical Journal 118 (3), 279a, 2020 | | 2020 |
