Development and validation of a new risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathies K Wahbi, R Ben Yaou, E Gandjbakhch, F Anselme, T Gossios, ... Circulation 140 (4), 293-302, 2019 | 181 | 2019 |
ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan I Gerin, B Ury, I Breloy, C Bouchet-Seraphin, J Bolsée, M Halbout, J Graff, ... Nature communications 7 (1), 11534, 2016 | 137 | 2016 |
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy V Schartner, NB Romero, S Donkervoort, S Treves, P Munot, TM Pierson, ... Acta neuropathologica 133, 517-533, 2017 | 113 | 2017 |
Diagnosis and management of glioblastoma: A comprehensive perspective V Gilard, A Tebani, I Dabaj, A Laquerrière, M Fontanilles, S Derrey, ... Journal of personalized medicine 11 (4), 258, 2021 | 54 | 2021 |
Diaphragmatic dysfunction in SEPN1-related myopathy S Caggiano, S Khirani, I Dabaj, E Cavassa, A Amaddeo, JO Arroyo, ... Neuromuscular Disorders 27 (8), 747-755, 2017 | 39 | 2017 |
Pediatric laminopathies: Whole‐body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy D Gómez‐Andrés, I Dabaj, D Mompoint, K Hankiewicz, V Azzi, C Ioos, ... Muscle & nerve 54 (2), 192-202, 2016 | 33 | 2016 |
Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity M Tordjman, I Dabaj, P Laforet, A Felter, A Ferreiro, M Biyoukar, B Law-Ye, ... European radiology 28, 5293-5303, 2018 | 30 | 2018 |
International retrospective natural history study of LMNA-related congenital muscular dystrophy R Ben Yaou, P Yun, I Dabaj, G Norato, S Donkervoort, H Xiong, ... Brain communications 3 (3), fcab075, 2021 | 28 | 2021 |
Effect of salbutamol on respiratory muscle strength in spinal muscular atrophy S Khirani, I Dabaj, A Amaddeo, JO Arroyo, J Ropers, S Tirolien, V Coudert, ... Pediatric Neurology 73, 78-87. e1, 2017 | 27 | 2017 |
Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen M Gómez‐García de la Banda, A Amaddeo, S Khirani, S Pruvost, ... Pediatric Pulmonology 56 (1), 299-306, 2021 | 24 | 2021 |
Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care F Heller, I Dabaj, JK Mah, J Bergounioux, A Essid, CG Bönnemann, ... Cardiology in the Young 27 (6), 1076-1082, 2017 | 24 | 2017 |
Muscle metabolic remodelling patterns in Duchenne muscular dystrophy revealed by ultra-high-resolution mass spectrometry imaging I Dabaj, J Ferey, F Marguet, V Gilard, C Basset, Y Bahri, AC Brehin, ... Scientific Reports 11 (1), 1906, 2021 | 23 | 2021 |
NGLY1 deficiency: a rare newly described condition with a typical presentation I Dabaj, B Sudrié-Arnaud, F Lecoquierre, K Raymond, F Ducatez, ... Life 11 (3), 187, 2021 | 20 | 2021 |
Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome C Gitiaux, N Blin-Rochemaure, M Hully, A Echaniz-Laguna, N Calmels, ... Clinical Neurophysiology 126 (7), 1435-1439, 2015 | 17 | 2015 |
The value of respiratory muscle testing in a child with congenital muscular dystrophy S Khirani, I Dabaj, A Amaddeo, A Ramirez, S Quijano‐Roy, B Fauroux Respirology Case Reports 2 (3), 95-98, 2014 | 16 | 2014 |
Clinical and imaging hallmarks of the MYH7‐related myopathy with severe axial involvement I Dabaj, RY Carlier, D Gómez‐Andrés, OA Neto, E Bertini, A D'amico, ... Muscle & nerve 58 (2), 224-234, 2018 | 14 | 2018 |
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome MA Cousin, EL Veale, NR Dsouza, S Tripathi, RG Holden, M Arelin, ... Genome medicine 14 (1), 62, 2022 | 13 | 2022 |
Minimally invasive fusionless surgery for scoliosis in spinal muscular atrophy: long-term follow-up results in a series of 59 patients M Gaume, E Saudeau, MGG de la Banda, V Azzi-Salameh, B Mbieleu, ... Journal of Pediatric Orthopaedics 41 (9), 549-558, 2021 | 12 | 2021 |
Cerebral palsy in very preterm infants: a nine-year prospective study in a French population-based tertiary center C Chollat, E Bertrand, A Petit-Ledo, C de Vansay, C Voisin, I Dabaj, ... The Journal of Pediatrics 237, 183-189. e6, 2021 | 12 | 2021 |
Diagnosis and management of carpal tunnel syndrome in children with mucopolysaccharidosis: a 10 year experience I Dabaj, C Gitiaux, D Avila-Smirnow, J Ropers, I Desguerre, A Salon, ... Diagnostics 10 (1), 5, 2019 | 12 | 2019 |