| Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy M Yuen, SA Sandaradura, JJ Dowling, AS Kostyukova, N Moroz, ... The Journal of clinical investigation 124 (11), 4693-4708, 2014 | 174 | 2014 |
| Mutationspecific effects on thin filament length in thin filament myopathy JM Winter, B Joureau, EJ Lee, B Kiss, M Yuen, VA Gupta, CT Pappas, ... Annals of neurology 79 (6), 959-969, 2016 | 62 | 2016 |
| Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome GL O'Grady, C Verschuuren, M Yuen, R Webster, M Menezes, JM Fock, ... Neurology 87 (14), 1442-1448, 2016 | 60 | 2016 |
| Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function TE Sztal, M Zhao, C Williams, V Oorschot, AC Parslow, A Giousoh, ... Acta neuropathologica 130, 389-406, 2015 | 58 | 2015 |
| K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity N Mokbel, B Ilkovski, M Kreissl, M Memo, CM Jeffries, M Marttila, ... Brain 136 (2), 494-507, 2013 | 52 | 2013 |
| Multiple hybridization events between Drosophila simulans and Drosophila mauritiana are supported by mtDNA introgression MDS Nunes, P OROZCOTER WENGEL, M Kreissl, C Schlötterer Molecular ecology 19 (21), 4695-4707, 2010 | 48 | 2010 |
| Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres M Yuen, ST Cooper, SB Marston, KJ Nowak, E McNamara, N Mokbel, ... Human molecular genetics 24 (22), 6278-6292, 2015 | 45 | 2015 |
| KBTBD13 is an actin-binding protein that modulates muscle kinetics JM De Winter, JP Molenaar, M Yuen, R Van Der Pijl, S Shen, S Conijn, ... The Journal of clinical investigation 130 (2), 754-767, 2020 | 34 | 2020 |
| Nebulin: big protein with big responsibilities M Yuen, CAC Ottenheijm Journal of muscle research and cell motility 41 (1), 103-124, 2020 | 33 | 2020 |
| Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1related nemaline myopathy (NEM3) B Joureau, JM de Winter, S Conijn, SJP Bogaards, I Kovacevic, ... Annals of neurology 83 (2), 269-282, 2018 | 32 | 2018 |
| Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3 LB Waddell, M Kreissl, A Kornberg, P Kennedy, C McLean, A Labarre-Vila, ... Neuromuscular Disorders 20 (7), 464-466, 2010 | 32 | 2010 |
| Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy M Yuen, SA Sandaradura, JJ Dowling, AS Kostyukova, N Moroz, ... The Journal of clinical investigation 125 (1), 456-457, 2015 | 31 | 2015 |
| The effects of disease models of nuclear actin polymerization on the nucleus LA Serebryannyy, M Yuen, M Parilla, ST Cooper, P De Lanerolle Frontiers in Physiology 7, 454, 2016 | 30 | 2016 |
| Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant M Yuen, L Worgan, J Iwanski, CT Pappas, H Joshi, JM Churko, ... European Journal of Human Genetics 30 (4), 450-457, 2022 | 14 | 2022 |
| Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone SJ Bryen, M Yuen, H Joshi, R Dawes, K Zhang, JK Lu, KJ Jones, C Liang, ... Human Genetics and Genomics Advances 3 (4), 2022 | 5 | 2022 |
| GO 2: Mutations in LMOD3 cause severe nemaline myopathy by disrupting thin filament organisation in skeletal muscle M Kreissl, SA Sandaradura, JJ Dowling, AS Kostyukova, N Moroz, ... Neuromuscular Disorders 24 (9), 792-793, 2014 | 1 | 2014 |
| Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint KY Zhang, H Joshi, RG Marchant, SJ Bryen, R Dawes, M Yuen, ... European Journal of Human Genetics, 1-8, 2024 | | 2024 |
| Lmod2 is necessary for effective skeletal muscle contraction TM Larrinaga, GP Farman, RM Mayfield, M Yuen, RC Ahrens-Nicklas, ... Science Advances 10 (11), eadk1890, 2024 | | 2024 |
| KBTBD13 is an actin-binding protein that modulates muscle kinetics (vol 130, pg 754, 2020) JM Winter, JP Molenaar, M Yuen, R Pijl, S Shen, S Conijn, M Locht, ... JOURNAL OF CLINICAL INVESTIGATION 134 (3), 2024 | | 2024 |
| KBTBD13 is an actin-binding protein that modulates muscle kinetics JM de Winter, JP Molenaar, M Yuen, R van der Pijl, S Shen, S Conijn, ... The Journal of Clinical Investigation 134 (3), 2024 | | 2024 |
