Clinical features and prognostic factors of listeriosis: the MONALISA national prospective cohort study C Charlier, É Perrodeau, A Leclercq, B Cazenave, B Pilmis, B Henry, ... The Lancet Infectious Diseases 17 (5), 510-519, 2017 | 505 | 2017 |
Effects of mechanical ventilation on diaphragmatic contractile properties in rats. G Le Bourdelles, N Viires, J Boczkowski, N Seta, D Pavlovic, M Aubier American journal of respiratory and critical care medicine 149 (6), 1539-1544, 1994 | 339 | 1994 |
Protein glycosylation and diseases: blood and urinary oligosaccharides as markers for diagnosis and therapeutic monitoring G DuRAND, N Seta Clinical chemistry 46 (6), 795-805, 2000 | 327 | 2000 |
Compartmentalized cytokine production within the human lung in unilateral pneumonia. MS Dehoux, A Boutten, J Ostinelli, N Seta, MC Dombret, B Crestani, ... American journal of respiratory and critical care medicine 150 (3), 710-716, 1994 | 310 | 1994 |
Congenital disorders of glycosylation (CDG): Quo vadis? R Péanne, P De Lonlay, F Foulquier, U Kornak, DJ Lefeber, E Morava, ... European journal of medical genetics 61 (11), 643-663, 2018 | 252 | 2018 |
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases P De Lonlay, N Seta, S Barrot, B Chabrol, V Drouin, BM Gabriel, ... Journal of medical genetics 38 (1), 14-19, 2001 | 247 | 2001 |
Indoor aldehydes: measurement of contamination levels and identification of their determinants in Paris dwellings B Clarisse, AM Laurent, N Seta, Y Le Moullec, A El Hasnaoui, I Momas Environmental research 92 (3), 245-253, 2003 | 205 | 2003 |
Compartmentalized IL-8 and elastase release within the human lung in unilateral pneumonia. A Boutten, MS Dehoux, N Seta, J Ostinelli, P Venembre, B Crestani, ... American journal of respiratory and critical care medicine 153 (1), 336-342, 1996 | 195 | 1996 |
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies L Devisme, C Bouchet, M Gonzalès, E Alanio, A Bazin, B Bessières, ... Brain 135 (2), 469-482, 2012 | 175 | 2012 |
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG‐Ia) G Matthijs, E Schollen, C Bjursell, A Erlandson, H Freeze, F Imtiaz, ... Human mutation 16 (5), 386-394, 2000 | 174 | 2000 |
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly S Vuillaumier-Barrot, C Bouchet-Séraphin, M Chelbi, L Devisme, ... The American Journal of Human Genetics 91 (6), 1135-1143, 2012 | 171 | 2012 |
Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: a new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with … P de Lonlay, M Cuer, S Vuillaumier-Barrot, G Beaune, P Castelnau, ... The Journal of pediatrics 135 (3), 379-383, 1999 | 162 | 1999 |
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 | 135 | 2016 |
The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib P De Lonlay, N Seta Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1792 (9), 841-843, 2009 | 135 | 2009 |
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG M Aebi, A Helenius, B Schenk, R Barone, A Fiumara, EG Berger, ... Glycoconjugate journal 16, 669-671, 1999 | 131 | 1999 |
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose: Man7GlcNAc2-PP-dolichyl mannosyltransferase I Chantret, T Dupré, C Delenda, S Bucher, J Dancourt, A Barnier, ... Journal of Biological Chemistry 277 (28), 25815-25822, 2002 | 118 | 2002 |
International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: diagnosis, treatment and follow up R Altassan, R Péanne, J Jaeken, R Barone, M Bidet, D Borgel, S Brasil, ... Journal of inherited metabolic disease 42 (1), 5-28, 2019 | 117 | 2019 |
Nasal inflammation and personal exposure to fine particles PM2. 5 in asthmatic children L Nikasinovic, J Just, F Sahraoui, N Seta, A Grimfeld, I Momas Journal of allergy and clinical immunology 117 (6), 1382-1388, 2006 | 112 | 2006 |
Pesticide exposure of non-occupationally exposed subjects compared to some occupational exposure: a French pilot study G Bouvier, O Blanchard, I Momas, N Seta Science of the total environment 366 (1), 74-91, 2006 | 111 | 2006 |
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and … M Schiff, C Roda, ML Monin, A Arion, M Barth, N Bednarek, M Bidet, ... Journal of medical genetics 54 (12), 843-851, 2017 | 107 | 2017 |