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174 results on '"Solé G"'

1. Transthyretin amyloid polyneuropathy in France: A cross-sectional study with 413 patients and real-world tafamidis meglumine use (2009–2019)

Author

Adams, D., Cintas, P., Solé, G., Tard, C., Labeyrie, C., Echaniz-Laguna, A., Cauquil, C., Pereon, Y., Magy, L., Morales, R. Juntas, Antoine, J.C., Lagrange, E., Petiot, P., Mallaret, M., Francou, B., Guiochon-Mantel, A., Coste, A., Demarcq, O., Geffroy, C., Famelart, V., Rudant, J, Bartoli, M, Donal, E., Lairez, O., Eicher, J.C., Kharoubi, M., Oghina, S., Trochu, J.N., Inamo, J., Habib, G., Roubille, F., Hagège, A., Morio, F., Cariou, E., Adda, J., Slama, M.S., Charron, P., Algalarrondo, V., Damy, T., and Attarian, S.

Published
2024
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5. Reducing the Risk of Falls by 78% with a New Generation of Slip Resistant Winter Footwear

Author

Bagheri, Z. S., Beltran, J., Holyoke, P., Sole, G., Hutchinson, K., Dutta, T., Kacprzyk, Janusz, Series Editor, Pal, Nikhil R., Advisory Editor, Bello Perez, Rafael, Advisory Editor, Corchado, Emilio S., Advisory Editor, Hagras, Hani, Advisory Editor, Kóczy, László T., Advisory Editor, Kreinovich, Vladik, Advisory Editor, Lin, Chin-Teng, Advisory Editor, Lu, Jie, Advisory Editor, Melin, Patricia, Advisory Editor, Nedjah, Nadia, Advisory Editor, Nguyen, Ngoc Thanh, Advisory Editor, Wang, Jun, Advisory Editor, Goossens, Richard H.M., editor, and Murata, Atsuo, editor

Published
2020
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13. La mujer en la Edad Media: una aproximación historiográfica

Author

Solé, G. (Gloria)

Subjects
Philosophy
Abstract

This paper includes historical studies to introduce the subject of the conference Women in the Middle Ages (the female condition from a christian perspective), which was held at the University of Navarra in 1993. It contains general and specialized works concerning queens, nobles, nuns, beguines, cenobites, citizens and countrywomen, crusaders and pilgrims of medieval times.

Published
2018

14. Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry

Author

Semplicini, C., de Antonio, M., Taouagh, N., Béhin, A., Bouhour, F., Echaniz-Laguna, A., Magot, A., Nadaj-Pakleza, A., Orlikowski, D., Sacconi, S., Salort-Campana, E., Solé, G., Tard, Celine, Zagnoli, F., Jean-Yves, H., Hamroun, D., Laforêt, P., Attarian, S., Aubé-Nathier, A. C., Arrassi, A., Bassez, G., Bedat-Millet, A. L., Bouibede, F., Boyer, F. C., Caillaud, C., Canal, A., Carlier, R. Y., Chanson, J. B., Chapon, F., Cintas, P., Deibener-Kaminsky, J., Demurger, F., Desnuelle, C., Durieu, I., Eymard, B., Feasson, L., Fournier, M., Froissart, R., Furby, A., Garcia, P. Y., Germain, D. P., Ghorab, K., Morales, R. J., Krim, E., Labauge, P., Lacour, A., Lagrange, E., Lefeuvre, C., Leguy-Seguin, V., Leonard-Louis, S., Magy, L., Masseau, A., Michaud, M., Minot-Myhié, M. C., Nicolas, G., Nollet, S., Not, A., Noury, J. B., Ollivier, G., Péréon, Y., Perez, Thierry, Perniconi, B., Piraud, M., Petiot, P., Pouget, J., Praline, J., Prigent, H., Renard, D., Spinazzi, M., Stojkovic, T., Taithe, F., Tiffreau, Vincent, Vincent, D., Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369 - ULR 4488 (URePSSS), and Université d'Artois (UA)-Université du Littoral Côte d'Opale (ULCO)-Université de Lille

Subjects
Adult, Male, Pediatrics, medicine.medical_specialty, Registry, alglucosidase alfa, Adolescent, [SDV]Life Sciences [q-bio], Walk Test, Disease, Sitting, 03 medical and health sciences, FEV1/FVC ratio, Young Adult, Glycogen storage disease type II, Genetics, medicine, Humans, Respiratory function, Prospective Studies, Registries, Child, Alglucosidase alfa, Genetics (clinical), 030304 developmental biology, Aged, 0303 health sciences, late onset Pompe disease, business.industry, 030305 genetics & heredity, alpha-Glucosidases, Enzyme replacement therapy, Middle Aged, medicine.disease, Respiratory Function Tests, Treatment Outcome, Ceiling effect, Female, France, business, medicine.drug, enzyme replacement therapy
Abstract

Despite a wide clinical spectrum, the adult form of Pompe disease is the most common one, and represents more than 90% of diagnosed patients in France. Since the marketing of enzyme replacement therapy (alglucosidase alfa, Myozyme), all reports to date in adults demonstrated an improvement of the walking distance, and a trend toward stabilization of respiratory function, but the majority of these studies were less than 5 years of duration. We report here the findings from 158 treated patients included in the French Pompe Registry, who underwent regular clinical assessments based on commonly used standardized tests (6-minute walking test, MFM scale, sitting vital capacity, MIP and MEP). For longitudinal analyses, the linear mixed effects models were used to assess trends in primary endpoints over time under ERT. A two-phase model better described the changes in distance traveled in the 6-minute walk test and MFM. 6MWT showed an initial significant increase (1.4% ± 0.5/year) followed by a progressive decline (-2.3%/year), with a cut-off point at 2.2 years. A similar pattern was observed in total MFM score (6.6% ± 2.3/year followed by a - 1.1%/year decline after 0.5 years). A single-phase decline with a slope of -0.9 ± 0.1%/year (P < .001) was observed for FVC, and MEP remained stable over the all duration of follow-up. This study provides further evidence that ERT improves walking abilities and likely stabilizes respiratory function in adult patients with Pompe disease, with a ceiling effect for the 6MWT in the first 3 years of treatment.

Published
2020

15. DMD – BIOMARKERS & OUTCOME MEASURES

Author

Gargaun, E., primary, Bassez, G., additional, Wahbi, K., additional, Yaou, R. Ben, additional, Guibaud, M., additional, Solé, G., additional, Tiffreau, V., additional, Laforet, P., additional, Parent, M., additional, Husson, M., additional, Urtizberea, A., additional, Eymard, B., additional, Boland, A., additional, Deleuze, J., additional, Salgado, D., additional, Khran, M., additional, Levy, N., additional, Blesius, A., additional, Leturcq, F., additional, and Pietri-Rouxel, F., additional

Published
2020
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17. P.335Phenotypic and genomic characterization as predictors of DMD 45 to 55 multi-exon skipping therapy

Author

Gargaun, E., primary, Wahbi, K., additional, Ben Yaou, R., additional, Guibaud, M., additional, Solé, G., additional, Tiffreau, V., additional, Laforêt, P., additional, Parent, M., additional, Husson, M., additional, Bassez, G., additional, Cuisset, J., additional, Urtizberea, A., additional, Eymard, B., additional, Boland, A., additional, Deleuze, J., additional, Salgado, D., additional, Khran, M., additional, Levy, N., additional, Blesius, A., additional, Leturcq, F., additional, and Pietri-Rouxel, F., additional

Published
2019
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19. Current French Pompe Prevalence Study (French PoPS)

Author

Sacconi, S., Piraud, M., Echaniz-Laguna, A., Tranchant, C., Boutte, C., Nadaj, A., Penisson-Besnier, I., Bouhour, F., Gervais, H., Petiot, P., Manel, V., Gallard, J., Salort-Campana, E., Solé, G., Pages, M., Echenne, B., Fourquet, I., Lacour, A., Feasson, L., Magot, A., Chabrol, B., Chapon, F., Clavelou, P., Martinez, E., Baëz, E., Laforêt, P., Pouget, J., and Desnuelle, C.

Published
2011
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23. Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

Author

Jonson, P. H., primary, Palmio, J., additional, Johari, M., additional, Penttilä, S., additional, Evilä, A., additional, Nelson, I., additional, Bonne, G., additional, Wiart, N., additional, Meyer, V., additional, Boland, A., additional, Deleuze, J.‐F., additional, Masson, C., additional, Stojkovic, T., additional, Chapon, F., additional, Romero, N. B., additional, Solé, G., additional, Ferrer, X., additional, Ferreiro, A., additional, Hackman, P., additional, Richard, I., additional, and Udd, B., additional

Published
2018
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28. Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients

Author

Masat, Elisa, Laforêt, Pascal, De Antonio, Marie, Corre, Guillaume, Perniconi, Barbara, Taouagh, Nadjib, Mariampillai, Kuberaka, Amelin, Damien, Mauhin, Wladimir, Hogrel, Jean-Yves, Caillaud, Catherine, Ronzitti, Giuseppe, Puzzo, Francesco, Kuranda, Klaudia, Colella, Pasqualina, Mallone, Roberto, Benveniste, Olivier, Mingozzi, Federico, Bassez, G., Bedat-Millet, A. L., Behin, A., Eymard, B., Leonard-Louis, S., Stojkovic, T., Canal, A., Decostre, V., Bouhour, F., Boyer, F., Castaing, Y., Chapon, F., Cintas, P., Durieu, I., Echaniz-Laguna, A., Feasson, L., Furby, A., Hamroun, D., Ferrer, X., Solé, G., Froissart, R., Piraud, M., Germain, D., Benistan, K., Guffon-Fouilhoux, N., Journel, H., Labauge, P., Lacour, A., Levy, A., Magot, A., Péréon, Y., Minot-Myhié, M. -C., Nadaj-Pakleza, A., Nathier, C., Orlikowski, D., Pellegrini, N., Petiot, P., Praline, J., Lofaso, F., Prigent, H., Dutry, A., Renard, D., Sacconi, S., Desnuelle, C., Salort-Campana, E., Pouget, J., Tiffreau, V., Vincent, D., Zagnoli, F., Centre de recherche en myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche des Cordeliers (CRC), Université Paris Diderot - Paris 7 (UPD7)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Généthon, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de biochimie métabolique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de diabétologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Université Pierre et Marie Curie - Paris 6 (UPMC)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Association française contre les myopathies ( AFM-Téléthon ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Association française contre les myopathies ( AFM-Téléthon ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Centre de Recherche des Cordeliers ( CRC ), Université Paris Diderot - Paris 7 ( UPD7 ) -École pratique des hautes études ( EPHE ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), GENETHON, Genethon, DHUI2B, CHU Pitié-Salpêtrière [APHP], CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP), Institut Cochin ( UM3 (UMR 8104 / U1016) ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP], Université Pierre et Marie Curie - Paris 6 [UPMC], CHU Necker - Enfants Malades [AP-HP], Hôpital Cochin [AP-HP], Hôpital Henri Mondor, CHU Rouen, Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Centre Hospitalier Universitaire de Reims [CHU Reims], CHU de Bordeaux Pellegrin [Bordeaux], CHU Caen, Centre d'investigation clinique de Toulouse [CIC 1436], Centre Hospitalier Lyon Sud [CHU - HCL] [CHLS], Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] [CHU ST-E], CHU Montpellier, CHU Bordeaux [Bordeaux], Hôpital de l'Hôtel Dieu [CHU-HCL], Centre Hospitalier Régional Universitaire [Lille] [CHRU Lille], Centre hospitalier universitaire de Nantes [CHU Nantes], CHU Pontchaillou [Rennes], Centre Hospitalier Universitaire d'Angers [CHU Angers], Hôpital Raymond Poincaré [AP-HP], Hôpital de la Croix-Rousse [CHU - HCL], Centre Hospitalier Régional Universitaire de Tours [CHRU Tours], Centre Hospitalier Universitaire de Nice [CHU Nice], Hôpital de la Timone [CHU - APHM] [TIMONE], Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369 - ULR 4488 [URePSSS], Hôpital d'Instruction des Armées Clermont Tonnerre, Université Pierre et Marie Curie - Paris 6 (UPMC)-École pratique des hautes études (EPHE), and HAL UPMC, Gestionnaire

Subjects
0301 basic medicine, Adult, Male, Chemokine, congenital, hereditary, and neonatal diseases and abnormalities, [SDV.IMM] Life Sciences [q-bio]/Immunology, T cell, T-Lymphocytes, Antibodies, Article, 03 medical and health sciences, 0302 clinical medicine, Immune system, Medicine, [ SDV.IMM ] Life Sciences [q-bio]/Immunology, Humans, Enzyme Replacement Therapy, Age of Onset, Aged, [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Multidisciplinary, biology, business.industry, Glycogen Storage Disease Type II, Immunogenicity, Case-control study, Antibody titer, nutritional and metabolic diseases, alpha-Glucosidases, Enzyme replacement therapy, Dendritic Cells, [ SDV.MHEP.EM ] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Middle Aged, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, Treatment Outcome, Case-Control Studies, Immunoglobulin G, Immunology, biology.protein, Interleukin-2, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, Antibody, business, 030217 neurology & neurosurgery
Abstract

Immunogenicity of recombinant human acid-alpha glucosidase (rhGAA) in enzyme replacement therapy (ERT) is a safety and efficacy concern in the management of late-onset Pompe disease (LOPD). However, long-term effects of ERT on humoral and cellular responses to rhGAA are still poorly understood. To better understand the impact of immunogenicity of rhGAA on the efficacy of ERT, clinical data and blood samples from LOPD patients undergoing ERT for >4 years (n = 28) or untreated (n = 10) were collected and analyzed. In treated LOPD patients, anti-rhGAA antibodies peaked within the first 1000 days of ERT, while long-term exposure to rhGAA resulted in clearance of antibodies with residual production of non-neutralizing IgG. Analysis of T cell responses to rhGAA showed detectable T cell reactivity only after in vitro restimulation. Upregulation of several cytokines and chemokines was detectable in both treated and untreated LOPD subjects, while IL2 secretion was detectable only in subjects who received ERT. These results indicate that long-term ERT in LOPD patients results in a decrease in antibody titers and residual production of non-inhibitory IgGs. Immune responses to GAA following long-term ERT do not seem to affect efficacy of ERT and are consistent with an immunomodulatory effect possibly mediated by regulatory T cells.

Published
2016

32. Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease

Author

Papadopoulos, C., primary, Orlikowski, D., additional, Prigent, H., additional, Perniconi, B., additional, Taouagh, N., additional, Lacour, A., additional, Tard, C., additional, Furby, A., additional, Praline, J., additional, Solé, G., additional, Semplicini, C., additional, Kaminsky, P., additional, Eymard, B., additional, Hamroun, D., additional, and Laforêt, P., additional

Published
2016
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37. P.245 - Efficiency of targeted NGS on myopathies and muscular dystrophy genes: Importance of an optimized strategy of capture, sequencing, bioinformatic analyses and multidisciplinary approach for variants detection and interpretation

Author

Zenagui, R., Lacourt, D., Juntas-Morales, R., Sole, G., Cances, C., River, F., Renard, D., Walther-Louvier, U., Ferrer-Monasterio, X., Espil, C., Arné-Bes, M., Cintas, P., Uro-Coste, E., Martin Negrier, M., Rigau, V., Bieth, E., Goizet, C., Claustres, M., Koenig, M., and Cossee, M.

Published
2016
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47. Discovery and preclinical evaluation of anti-miR-17 oligonucleotide RGLS4326 for the treatment of polycystic kidney disease

Author

Edmund C. Lee, Tania Valencia, Charles Allerson, Annelie Schairer, Andrea Flaten, Matanel Yheskel, Kara Kersjes, Jian Li, Sole Gatto, Mandeep Takhar, Steven Lockton, Adam Pavlicek, Michael Kim, Tiffany Chu, Randy Soriano, Scott Davis, John R. Androsavich, Salma Sarwary, Tate Owen, Julia Kaplan, Kai Liu, Graham Jang, Steven Neben, Philip Bentley, Timothy Wright, and Vishal Patel

Subjects
Science
Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is a leading genetic cause of end-stage renal disease with limited treatment options. Here the authors discover and characterize a microRNA inhibitor as a potential treatment for ADPKD.

Published
2019
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48. Comprehensive RNA-Sequencing Analysis in Serum and Muscle Reveals Novel Small RNA Signatures with Biomarker Potential for DMD

Author

Anna M.L. Coenen-Stass, Helena Sork, Sole Gatto, Caroline Godfrey, Amarjit Bhomra, Kaarel Krjutškov, Jonathan R. Hart, Jakub O. Westholm, Liz O’Donovan, Andreas Roos, Hanns Lochmüller, Pier Lorenzo Puri, Samir EL Andaloussi, Matthew J.A. Wood, and Thomas C. Roberts

Subjects
Therapeutics. Pharmacology, RM1-950
Abstract

Extracellular small RNAs (sRNAs), including microRNAs (miRNAs), are promising biomarkers for diseases such as Duchenne muscular dystrophy (DMD), although their biological relevance is largely unknown. To investigate the relationship between intracellular and extracellular sRNA levels on a global scale, we performed sRNA sequencing in four muscle types and serum from wild-type, dystrophic mdx, and mdx mice in which dystrophin protein expression was restored by exon skipping. Differentially abundant sRNAs were identified in serum (mapping to miRNA, small nuclear RNA [snRNA], and PIWI-interacting RNA [piRNA] loci). One novel candidate biomarker, miR-483, was increased in both mdx serum and muscle, and also elevated in DMD patient sera. Dystrophin restoration induced global shifts in miRNA (including miR-483) and snRNA-fragment abundance toward wild-type levels. Specific serum piRNA-like sRNAs also responded to exon skipping therapy. Absolute miRNA expression in muscle was positively correlated with abundance in the circulation, although multiple highly expressed miRNAs in muscle were not elevated in mdx serum, suggesting that both passive and selective release mechanisms contribute to serum miRNA levels. In conclusion, this study has revealed new insights into the sRNA biology of dystrophin deficiency and identified novel DMD biomarkers. Keywords: small RNA sequencing, microRNA, piRNA, Duchenne muscular dystrophy, extracellular miRNA

Published
2018
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50. Dynamics of cellular states of fibro-adipogenic progenitors during myogenesis and muscular dystrophy

Author

Barbora Malecova, Sole Gatto, Usue Etxaniz, Magda Passafaro, Amy Cortez, Chiara Nicoletti, Lorenzo Giordani, Alessio Torcinaro, Marco De Bardi, Silvio Bicciato, Francesca De Santa, Luca Madaro, and Pier Lorenzo Puri

Subjects
Science
Abstract

Fibro-adipogenic progenitors (FAPs) resident in skeletal muscle are involved in both regeneration and maladaptive processes. Here, the authors identify subpopulations of FAPs with biological activities implicated in physiological muscle repair that are altered in pathological conditions such as muscular dystrophies.

Published
2018
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