Prati
Ivana Dabaj
Ivana Dabaj
CHU de Rouen
Potvrđena adresa e-pošte na chu-rouen.fr
Naslov
Citirano
Citirano
Godina
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
1772019
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
1352016
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
V Schartner, NB Romero, S Donkervoort, S Treves, P Munot, TM Pierson, ...
Acta neuropathologica 133, 517-533, 2017
1082017
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
542021
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
382017
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
332016
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
292018
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
262021
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
262017
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
232021
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
232017
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
222021
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
192021
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
162015
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
152014
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
142018
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
122021
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
112022
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
112019
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications
AR Deshwar, C Cytrynbaum, H Murthy, J Zon, D Chitayat, J Volpatti, ...
Brain 146 (6), 2285-2297, 2023
102023
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