| Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy V Schartner, NB Romero, S Donkervoort, S Treves, P Munot, TM Pierson, ... Acta neuropathologica 133, 517-533, 2017 | 106 | 2017 |
| Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues V Biancalana, S Scheidecker, M Miguet, A Laquerrière, NB Romero, ... Acta neuropathologica 134, 889-904, 2017 | 55 | 2017 |
| Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients OA Neto, CAM Moreno, E Malfatti, S Donkervoort, J Böhm, JB Guimarães, ... Neuromuscular Disorders 27 (11), 975-985, 2017 | 40 | 2017 |
| Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation G Morin, V Biancalana, A Echaniz‐Laguna, JB Noury, X Lornage, ... Human Mutation 41 (1), 17-37, 2020 | 39 | 2020 |
| Recessive MYPN mutations cause cap myopathy with occasional nemaline rods X Lornage, E Malfatti, C Chéraud, R Schneider, V Biancalana, JM Cuisset, ... Annals of Neurology 81 (3), 467-473, 2017 | 35 | 2017 |
| ACTN2 mutations cause “Multiple structured Core Disease” (MsCD) X Lornage, NB Romero, CA Grosgogeat, E Malfatti, S Donkervoort, ... Acta Neuropathologica 137, 501-519, 2019 | 34 | 2019 |
| MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants K Chennen, T Weber, X Lornage, A Kress, J Böhm, J Thompson, ... PLoS One 15 (7), e0236962, 2020 | 32 | 2020 |
| CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy J Böhm, X Lornage, F Chevessier, C Birck, S Zanotti, P Cudia, M Bulla, ... Acta neuropathologica 135, 149-151, 2018 | 32 | 2018 |
| Pathogenic variants in the myosin chaperone UNC-45B cause progressive myopathy with eccentric cores S Donkervoort, CE Kutzner, Y Hu, X Lornage, J Rendu, T Stojkovic, ... The American Journal of Human Genetics 107 (6), 1078-1095, 2020 | 28 | 2020 |
| HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy A Echaniz-Laguna, X Lornage, B Lannes, R Schneider, G Bierry, ... Acta Neuropathologica 134, 163-165, 2017 | 27 | 2017 |
| HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes A Berardo, X Lornage, M Johari, T Evangelista, C Cejas, F Barroso, ... Journal of Neurology 266, 2524-2534, 2019 | 24 | 2019 |
| Loss of sarcomeric scaffolding as a common baseline histopathologic lesion in titin-related myopathies R Ávila-Polo, E Malfatti, X Lornage, C Cheraud, I Nelson, J Nectoux, ... Journal of Neuropathology & Experimental Neurology 77 (12), 1101-1114, 2018 | 22 | 2018 |
| Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy HJ Kim, P Mohassel, S Donkervoort, L Guo, K O’donovan, M Coughlin, ... Nature communications 13 (1), 2306, 2022 | 20 | 2022 |
| Novel SPEG mutations in congenital myopathy without centralized nuclei X Lornage, P Sabouraud, B Lannes, D Gaillard, R Schneider, JF Deleuze, ... Journal of Neuromuscular Diseases 5 (2), 257-260, 2018 | 19 | 2018 |
| ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy RN Villar‐Quiles, F Catervi, E Cabet, R Juntas‐Morales, CA Genetti, ... Annals of neurology 87 (2), 217-232, 2020 | 18 | 2020 |
| Clinical, histological, and genetic characterization of PYROXD1-related myopathy X Lornage, V Schartner, I Balbueno, V Biancalana, T Willis, ... Acta Neuropathologica Communications 7, 1-10, 2019 | 15 | 2019 |
| Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A S Mercier, X Lornage, E Malfatti, P Marcorelles, F Letournel, C Boscher, ... Neurology 88 (4), 414-416, 2017 | 15 | 2017 |
| A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers T Evangelista, X Lornage, PG Carlier, G Bassez, G Brochier, A Chanut, ... Journal of Neuropathology & Experimental Neurology 79 (8), 908-914, 2020 | 14 | 2020 |
| Asymmetric muscle weakness due to ACTA1 mosaic mutations X Lornage, S Quijano-Roy, H Amthor, RY Carlier, N Monnier, JF Deleuze, ... Neurology 95 (24), e3406-e3411, 2020 | 9 | 2020 |
| Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3‐related type 1 pontocerebellar hypoplasia MM Pinto, S Monges, E Malfatti, F Lubieniecki, X Lornage, L Alias, ... Muscle & nerve 59 (1), 137-141, 2019 | 9 | 2019 |
