| Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu L Valente, V Tiranti, RM Marsano, E Malfatti, E Fernandez-Vizarra, ... The American Journal of Human Genetics 80 (1), 44-58, 2007 | 237 | 2007 |
| 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 | 173 | 2014 |
| Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy E Malfatti, M Bugiani, F Invernizzi, CFM de Souza, L Farina, F Carrara, ... Brain 130 (7), 1894-1904, 2007 | 161 | 2007 |
| Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression G Bruneteau, T Simonet, S Bauché, N Mandjee, E Malfatti, E Girard, ... Brain 136 (8), 2359-2368, 2013 | 140 | 2013 |
| 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 |
| A new muscle glycogen storage disease associated with glycogenin‐1 deficiency E Malfatti, J Nilsson, C Hedberg‐Oldfors, A Hernandez‐Lain, F Michel, ... Annals of neurology 76 (6), 891-898, 2014 | 89 | 2014 |
| ORAI1 mutations with distinct channel gating defects in tubular aggregate myopathy J Böhm, M Bulla, JE Urquhart, E Malfatti, SG Williams, J O'Sullivan, ... Human mutation 38 (4), 426-438, 2017 | 87 | 2017 |
| A premature stop codon in MYO18B is associated with severe nemaline myopathy with cardiomyopathy E Malfatti, J Böhm, E Lacène, M Beuvin, G Brochier, NB Romero, ... Journal of Neuromuscular Diseases 2 (3), 219-227, 2015 | 85 | 2015 |
| Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations J Böhm, V Biancalana, E Malfatti, N Dondaine, C Koch, N Vasli, W Kress, ... Brain 137 (12), 3160-3170, 2014 | 85 | 2014 |
| Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype E Malfatti, VL Lehtokari, J Böhm, JM De Winter, U Schäffer, B Estournet, ... Acta neuropathologica communications 2, 1-14, 2014 | 79 | 2014 |
| High risk of severe cardiac adverse events in patients with mitochondrial m. 3243A> G mutation E Malfatti, P Laforêt, C Jardel, T Stojkovic, A Behin, B Eymard, A Lombès, ... Neurology 80 (1), 100-105, 2013 | 73 | 2013 |
| Mutation‐specific 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 | 64 | 2016 |
| A new titinopathy: Childhood-juvenile onset Emery-Dreifuss–like phenotype without cardiomyopathy R De Cid, R Ben Yaou, C Roudaut, K Charton, S Baulande, F Leturcq, ... Neurology 85 (24), 2126-2135, 2015 | 60 | 2015 |
| An integrated diagnosis strategy for congenital myopathies J Böhm, N Vasli, E Malfatti, S Le Gras, C Feger, B Jost, N Monnier, ... PLoS One 8 (6), e67527, 2013 | 60 | 2013 |
| Nemaline myopathies: state of the art E Malfatti, NB Romero Revue Neurologique 172 (10), 614-619, 2016 | 59 | 2016 |
| STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility IT Zaharieva, A Sarkozy, P Munot, A Manzur, G O'grady, J Rendu, ... Human mutation 39 (12), 1980-1994, 2018 | 58 | 2018 |
| European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A) A Barp, P Laforet, L Bello, G Tasca, J Vissing, M Monforte, E Ricci, ... Journal of neurology 267, 45-56, 2020 | 52 | 2020 |
| New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy J Alonso-Perez, L González-Quereda, L Bello, M Guglieri, V Straub, ... Brain 143 (9), 2696-2708, 2020 | 50 | 2020 |
| The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series RN Villar-Quiles, M von Der Hagen, C Métay, V Gonzalez, S Donkervoort, ... Neurology 95 (11), e1512-e1527, 2020 | 46 | 2020 |
| Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation JB Noury, J Böhm, GA Peche, L Guyant-Marechal, AL Bedat-Millet, ... Neuromuscular Disorders 27 (1), 78-82, 2017 | 43 | 2017 |
laporte jocelynIGBMC (Inserm, Cnrs, Strasbourg University)Verified email at igbmc.fr
