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| Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy G Bernard, E Chouery, ML Putorti, M Tétreault, A Takanohashi, G Carosso, ... The American Journal of Human Genetics 89 (3), 415-423, 2011 | 278 | 2011 |
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| Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy M Tétreault, K Choquet, S Orcesi, D Tonduti, U Balottin, M Teichmann, ... The American Journal of Human Genetics 89 (5), 652-655, 2011 | 181 | 2011 |
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| Whole exome sequencing in patients with white matter abnormalities A Vanderver, C Simons, G Helman, J Crawford, NI Wolf, G Bernard, ... Annals of neurology 79 (6), 1031-1037, 2016 | 156 | 2016 |
| Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism H Daoud, M Tétreault, W Gibson, K Guerrero, A Cohen, ... Journal of medical genetics 50 (3), 194-197, 2013 | 110 | 2013 |
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| Diversity of ARSACS mutations in French-Canadians I Thiffault, MJ Dicaire, M Tetreault, KN Huang, J Demers-Lamarche, ... Canadian journal of neurological sciences 40 (1), 61-66, 2013 | 70 | 2013 |
| 4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations A Potic, B Brais, K Choquet, R Schiffmann, G Bernard Archives of neurology 69 (7), 920-923, 2012 | 68 | 2012 |
| Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies RL Piana, D Tonduti, HG Dressman, JL Schmidt, J Murnick, B Brais, ... Journal of child neurology 29 (2), 214-220, 2014 | 66 | 2014 |
| TUBB4A de novo mutations cause isolated hypomyelination A Pizzino, TM Pierson, Y Guo, G Helman, S Fortini, K Guerrero, S Saitta, ... Neurology 83 (10), 898-902, 2014 | 65 | 2014 |
| Altered PLP1 splicing causes hypomyelination of early myelinating structures SH Kevelam, JR Taube, RML van Spaendonk, E Bertini, K Sperle, ... Annals of clinical and translational neurology 2 (6), 648-661, 2015 | 42 | 2015 |
| More than hypomyelination in Pol-III disorder A Vanderver, D Tonduti, G Bernard, J Lai, C Rossi, G Carosso, ... Journal of Neuropathology & Experimental Neurology 72 (1), 67-75, 2013 | 36 | 2013 |
| Endocrine aspects of 4H leukodystrophy: a case report and review of the literature E Billington, G Bernard, W Gibson, B Corenblum Case reports in endocrinology 2015 (1), 314594, 2015 | 21 | 2015 |
| POLR3A and POLR3B mutations in unclassified hypomyelination FK Cayami, R La Piana, RML van Spaendonk, M Nickel, A Bley, ... Neuropediatrics 46 (03), 221-228, 2015 | 18 | 2015 |
