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185 results on '"Sole G"'

2. 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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11. Fetal phenotypes in otopalatodigital spectrum disorders

Author

Naudion, S., Moutton, S., Coupry, I., Sole, G., Deforges, J., Guerineau, E., Hubert, C., Deves, S., Pilliod, J., Rooryck, C., Abel, C., Le Breton, F., Collardeau-Frachon, S., Cordier, M. P., Delezoide, A. L., Goldenberg, A., Loget, P., Melki, J., Odent, S., Patrier, S., Verloes, A., Viot, G., Blesson, S., Bessières, B., Lacombe, D., Arveiler, B., Goizet, C., and Fergelot, P.

Published
2016
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12. CHANNELOPATHIES AND RELATED DISORDERS

Author

Quiles, R. Villar, primary, Tredez, G., additional, Sternberg, D., additional, Romero, N., additional, Evangelista, T., additional, Laforêt, P., additional, Cintas, P., additional, Sole, G., additional, Sacconi, S., additional, Bendahhou, S., additional, Arzel-Hezode, M., additional, Fournier, E., additional, Fontaine, B., additional, Stojkovic, T., additional, and Vicart, S., additional

Published
2021
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14. Vomissements incoercibles révélant une achalasie de l’œsophage avec AC anti-GAD65+ : une complication neurologique dysautonomique méconnue de l’association ipilimumab+nivolumab

Author

Montes, G., primary, Duval, F., additional, Eldani, C., additional, Amico, S., additional, Gerard, E., additional, Dutriaux, C., additional, Herran, C., additional, Poullenot, F., additional, Sole, G., additional, Guerin, C., additional, Zerbib, F., additional, Celerier, P., additional, and Prey, S., additional

Published
2020
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16. CONGENITAL MUSCULAR DYSTROPHIES

Author

Quiles, R. Villar, primary, Donkevoort, S., additional, de Becdelievre, A., additional, Allamand, V., additional, Jobic, V., additional, Urtizberea, J., additional, Sole, G., additional, Furby, A., additional, Cerino, M., additional, Campana-Salort, E., additional, Magot, A., additional, Ferreiro, A., additional, Eymard, B., additional, Bönnemann, C., additional, Richard, P., additional, Metay, C., additional, and Stojkovic, T., additional

Published
2020
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17. LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families

Author

Ben Yaou, R., Stojkovic, T., Cerino, Mathieu, Duval, F., Juntas-Morales, R., Nelson, I., Beuvin, M., Lacene, E., Sternberg, D., Nectoux, J., Martin-Negrier, M., Bartoli, Marc, Cossee, M., Leturcq, F., Sole, G., Krahn, Martin, Romero, N., Eymard, B., Bonne, Gisèle, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut de Myologie, 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)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Conditions Extrêmes et Matériaux : Haute Température et Irradiation (CEMHTI), Université d'Orléans (UO)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Service de pathologie, CHU Bordeaux [Bordeaux]-Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux]-Cancéropôle du Grand Sud-Ouest, Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hôpital Haut-Lévêque - CHU de Bordeaux (Centre médico chirurgical Magellan), Département de génétique médicale [Hôpital de la Timone - APHM], and Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV]Life Sciences [q-bio], dystrophie musculaire, Plectine, LGMD
Abstract

International audience

Published
2019

18. Morphological, ultrastructural and western blot analysis in adult and child with PLEC1-related myopathy

Author

Beuvin, M., Lacène, E., Labasse, C., Brochier, G., Madelaine, A., Ben Yaou, R., Stojkovic, T., Sole, G., Juntas-Morales, R., Martin-Negrier, M., Duval, F., Nelson, I., Nectoux, J., Leturcq, F., Cossée, M., Sternberg, D., Eymard, B., Bonne, Gisèle, Evangelista, T., Romero, N., Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Myologie, 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)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Hôpital Haut-Lévêque - CHU de Bordeaux (Centre médico chirurgical Magellan), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Service de pathologie, CHU Bordeaux [Bordeaux]-Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux]-Cancéropôle du Grand Sud-Ouest, Conditions Extrêmes et Matériaux : Haute Température et Irradiation (CEMHTI), Université d'Orléans (UO)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Hôpital Cochin [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

Subjects
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV]Life Sciences [q-bio]
Published
2019

19. Trente ans de lutte contre l’onchocercose en Afrique de l’Ouest. Traitements larvicides et protection de l’environnement

Author

A. Boatin, Boakye, Abban, E.K., Abban, K., Abban, K. E., Abban, Kofi Eddie, Agoua, H., Akpoboua, K.L.B., Akpoboua, L. K. B., Akpoboua, L.K.B., Alley, E. S., Alley, E.S., Alley, Edoh S., Antwi, L. A. K., Ba, O., Back, C., Baker, R. H. A., Baker, R.H.A., Baldry, David, Bihoum, M., Bissan, Y., Boakye, D., Boakye, D.A., Boakye, Daniel Adjei, Boatin, B., Boatin, B.A., Boatin, Boakye A, Boussinesq, M., Calamari, D., Calamari, Davide, Crosa, G., Crosa, Giuseppe, Curtis, M.S., Dadzie, K. Y., Dadzie, K.Y, Dadzie, K.Y., Dadzie, Kofi Yankum, Davies, J.B., Dejoux, C., Dejoux, Claude, Diop, M.E., Diop, Moussa Elimane, Elouard, J.-M., Elouard, Jean Marc, Elouard, Jean-Marc, Escaffre, Henri, Fairhurst, C., Fairhurst, C.P., Fermon, Y., Fermon, Yves, Gibon, F. M., Gibon, François Marie, Guillet, P., Guillet, Pierre, Hougard, J-M., Hougard, J.-M., Hougard, J.M., Hougard, Jean-Marc, Jamnback, Hugo, Jestin, Jean Marie, Jestin, Jean-Marie, Karam, Marc, Kondé, F., Kondé, Fafondé, Kurtak, D.C., Kurtak, Dan, Lapetite, Jean-Marc, Lévêque, C., Meredith, Stefanie E.O., Merona, Bernard de, Meyer, Rolf, Molyneux, D.H., Mosha, F.W., Nabé, K., Nabé, Kélétigui, Ocran, Michael, Odei, M., Ouedraogo, Moussa, Paugy, D., Paugy, Didier, Philippon, Bernard, Piessens, Willy F., Post, R.J., Poudiougo, P., Quillévéré, D., Quillévéré, Daniel, Remme, J., Renaud, Pierre, Samba, E. M., Samba, E.M., Samman, J., Sarbib, Jean-Louis, Sékétéli, A., Servat, Eric, Simier, M., sole, G. De, Statzner, Bernhard, Surtees, D.P., Tapsoba, J.-M., Tapsoba, Joseph-Marie, Tholley, D., Thomas, M. Pugh, Toe, Laurent, Traoré, K., Traoré, Kassoum, Troubat, Jean-Jacques, Unnasch, Thomas R., Wilson, M. D., Wirth, Dyann F., Yamaego, L., Yaméogo, L, Yaméogo, L., Yaméogo, Laurent, Zimmerman, Peter A., Yaméogo, Laurent, Levêque, Christian, and Hougard, Jean-Marc

Subjects
Surveillance, RNK, protection de l’écosystème, insecticide biologique, Côte d’Ivoire, Environmental Studies, onchocercose, vecteur, milieu aquatique, larve, insecticide chimique, NAT011000, méthode de lutte, parasite
Abstract

La lutte contre l'onchocercose, ou cécité des rivières, une maladie parasitaire endémique, fut entreprise en Afrique de l'Ouest dans une perspective do développement durable. Tous les moyens technologiques disponibles ont de ce fait été mobilisés pour le contrôle du vecteur, une simulie, puis du parasite responsables de cette maladie, par le Programme de Lutte contre l’Onchocercose en Afrique de l'Ouest (OCP). La lutte antivectorielle consistant en épandages d’insecticides chimiques sur les sites de développement de la simulie dans les rivières, il est apparu indispensable d’assurer la sauvegarde de l’environnement aquatique qui fournit aux communautés riveraines eau et ressources biologiques. Les technologies les plus modernes ont été mises en œuvre dès leur mise au point, pour combattre la maladie, contribuant ainsi à la protection de ce milieu. Le programme de surveillance écologique des rivières traitées par des larvicides anti-simulies a été mis en place dès le lancement d’OCP. et assuré par des spécialistes de I' hydrobiologie des pays africains participants du Programme, sous la supervision d’un groupe international d’experts indépendants, le Groupe Écologique. OCP est incontestablement un succès aussi bien pour ce qui est du contrôle de la maladie que de la protection de l'environnement. Il est l'exemple unique au monde d’un programme de santé publique de longue durée qui depuis son origine a mis en œuvre tout ce qui était possible pour harmoniser les enjeux de l’amélioration de la santé et ceux de la protection de l’environnement. Il s'est achevé avec la satisfaction de laisser aux générations montantes un environnement non dégradé et des vallées libérées de l’onchocercose, qui permettront d’accroître la productivité agricole des pays africains. The control of onchocerciasis, or river blindness, an endemic parasitic disease, was implemented in West Africa in the perspective of sustainable development AH the available technological means to fight this disease, by way of the control of its blackfly vector, then its parasite, were therefore implemented by the Onchocerciasis Control Programme in West Africa (OCP). Vector control being achieved through applications of chemicals on its river breeding sites, it was necessary, at the same time, to fight for the preservation of the aquatic environment, which supplies the communities that live along the rivers with water and biological resources. This was the spirit in which the OCP was set up and implemented, and the most modem technologies were used as they become available to fight the disease, thus facilitating the preservation of the aquatic environment. This Programme has indisputably been a success as regards the control of the disease as also from the point of view of the preservation of the environment The aquatic monitoring programme of the rivers under treatment with anti-simulid larvicides was set up right from the very beginning, and performed by national experts of the Participating Countries of the Programme, under the aegis of a group of international independent experts, the Ecological Croup The Onchocerciasis Control Programme in West Africa is an unique example in the world of a long-term public health programme which has made every effort possible from its inception to adequately combine health and environment issues. It ended with the satisfaction of bequeathing to the coming generations a non degraded environment and valleys freed from onchocerciasis which would increase the agricultural productivity of the countries.

Published
2019

20. Onchocerciasis control by large-scale ivermectin treatment

Author

Dadzie, K. Y., Remme, J., sole, G. De, Boatin, B., Alley, E. S., Ba, O., and Samba, E. M.

Subjects
Surveillance, RNK, protection de l’écosystème, insecticide biologique, animal diseases, Côte d’Ivoire, Environmental Studies, onchocercose, vecteur, milieu aquatique, larve, insecticide chimique, NAT011000, méthode de lutte, parasitic diseases, parasite
Abstract

Sir,—Since ivermectin was introduced as a treatment for onchocerciasis it has been shown to be applicable for community-based treatment and annual application has been found to be effective for the control of onchocercal ocular disease. These developments have offered an alternative to vector control in onchocerciasis. However, the effect of annual ivermectin mass treatment in the control of transmission of onchocerciasis is limited and large-scale ivermectin treatment, even for “morbidity co...

Published
2019

21. Self-report questionnaire vs. clinical evaluation form in the French National Registry on facioscapulohumeral dystrophy: a statistical comparison

Author

Benoit, S., Stalens, C., Villa, L., Guien, Celine, Rabarimeriarijaona, S., Bernard, R., Cintas, P., Sole, G., Tiffreau, V., Echaniz-Laguna, A., Magot, A., Morales, R. J., Bombart, V., Jacquin Piques, Agnès, Nadaj-Pakleza, A., Bouhour, F., Chapon, F., Eymard, B., Ghorab, K., Beroud, Christophe, Sacconi, S., French Fshd Registry, ., COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Association française contre les myopathies (AFM-Téléthon), Centre Hospitalier Universitaire de Nice (CHU Nice), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Timone [CHU - APHM] (TIMONE), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier Universitaire de Lille (CHU de Lille), Centre hospitalier universitaire de Nantes (CHU Nantes), Hôpital Hôtel-Dieu [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université de Montpellier (UM), Centre Hospitalier Universitaire de Reims (CHU Reims), Centre des Sciences du Goût et de l'Alimentation [Dijon] (CSGA), Institut National de la Recherche Agronomique (INRA)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Université Bourgogne Franche-Comté [COMUE] (UBFC), Centre Hospitalier Universitaire de Strasbourg (CHU de Strasbourg ), Hospices Civils de Lyon (HCL), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Mobilités : Vieillissement, Pathologie, Santé (COMETE), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Myologie, 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)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Neurologie [CHU Limoges], CHU Limoges, Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Biologie Valrose (IBV), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), AFM-Telethon, AFM Téléthon, Partenaires INRAE, Aix Marseille Université (AMU), CHU Toulouse [Toulouse], Centre Hospitalier Universitaire Gui de Chauliac (CHU Gui de Chauliac), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Centre de Mathématiques et de Leurs Applications (CMLA), École normale supérieure - Cachan (ENS Cachan)-Centre National de la Recherche Scientifique (CNRS), Direction des Applications Militaires (DAM), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), CHU Bordeaux [Bordeaux], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), ProdInra, Migration, and Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM)

Subjects
[SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], ComputingMilieux_MISCELLANEOUS, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

5th Congress of the European-Academy-of-Neurology (EAN), Oslo, NORWAY, JUN 29-JUL 02, 2019; International audience

Published
2019

22. A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

Author

Pareyson, D., Stojkovic, T., Reilly, M. M., Leonard-Louis, S., Laura, M., Blake, J., Parman, Y., Battaloglu, E., Tazir, M., Bellatache, M., Bonello-Palot, N., Levy, N., Sacconi, S., Guimaraes-Costa, R., Attarian, S., Latour, P., Sole, G., Megarbane, A., Horvath, R., Ricci, G., Choi, B. -O., Schenone, A., Gemelli, C., Geroldi, A., Sabatelli, M., Luigetti, M., Santoro, L., Manganelli, F., Quattrone, A., Valentino, P., Murakami, T., Scherer, S. S., Dankwa, L., Shy, M. E., Bacon, C. J., Herrmann, D. N., Zambon, A., Tramacere, I., Pisciotta, C., Magri, S., Previtali, S. C., Bolino, A., Sabatelli M. (ORCID:0000-0001-6635-4985), Luigetti M. (ORCID:0000-0001-7539-505X), Santoro L., Pareyson, D., Stojkovic, T., Reilly, M. M., Leonard-Louis, S., Laura, M., Blake, J., Parman, Y., Battaloglu, E., Tazir, M., Bellatache, M., Bonello-Palot, N., Levy, N., Sacconi, S., Guimaraes-Costa, R., Attarian, S., Latour, P., Sole, G., Megarbane, A., Horvath, R., Ricci, G., Choi, B. -O., Schenone, A., Gemelli, C., Geroldi, A., Sabatelli, M., Luigetti, M., Santoro, L., Manganelli, F., Quattrone, A., Valentino, P., Murakami, T., Scherer, S. S., Dankwa, L., Shy, M. E., Bacon, C. J., Herrmann, D. N., Zambon, A., Tramacere, I., Pisciotta, C., Magri, S., Previtali, S. C., Bolino, A., Sabatelli M. (ORCID:0000-0001-6635-4985), Luigetti M. (ORCID:0000-0001-7539-505X), and Santoro L.

Abstract

Objective: Charcot-Marie-Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive inheritance, early onset, severe course, slowed nerve conduction, and myelin outfoldings. CMT4B3 shows a more heterogeneous phenotype. All are associated with myotubularin-related protein (MTMR) mutations. We conducted a multicenter, retrospective study to better characterize CMT4B. Methods: We collected clinical and genetic data from CMT4B subjects in 18 centers using a predefined minimal data set including Medical Research Council (MRC) scores of nine muscle pairs and CMT Neuropathy Score. Results: There were 50 patients, 21 of whom never reported before, carrying 44 mutations, of which 21 were novel and six representing novel disease associations of known rare variants. CMT4B1 patients had significantly more-severe disease than CMT4B2, with earlier onset, more-frequent motor milestones delay, wheelchair use, and respiratory involvement as well as worse MRC scores and motor CMT Examination Score components despite younger age at examination. Vocal cord involvement was common in both subtypes, whereas glaucoma occurred in CMT4B2 only. Nerve conduction velocities were similarly slowed in both subtypes. Regression analyses showed that disease severity is significantly associated with age in CMT4B1. Slopes are steeper for CMT4B1, indicating faster disease progression. Almost none of the mutations in the MTMR2 and MTMR13 genes, responsible for CMT4B1 and B2, respectively, influence the correlation between disease severity and age, in agreement with the hypothesis of a complete loss of function of MTMR2/13 proteins for such mutations. Interpretation: This is the largest CMT4B series ever reported, demonstrating that CMT4B1 is significantly more severe than CMT4B2, and allowing an estimate of prognosis. ANN NEUROL 2019.

Published
2019

23. P.237Functional analyses and phenotype-genotype correlation studies in patients suspected of titinopathy

Author

Juntas Morales, R., primary, Perrin, A., additional, Walther-Louvier, U., additional, Cintas, P., additional, Sole, G., additional, Espil, C., additional, Cances, C., additional, Renard, D., additional, Arne-Bes, M., additional, Rigau, V., additional, Maues de Paula, A., additional, Uro-coste, E., additional, Martine Negrier, M., additional, Leboucq, N., additional, Thorel, D., additional, Theze, C., additional, Pegeot, H., additional, Koenig, M., additional, and Cossee, M., additional

Published
2019
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26. P.252LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families

Author

Ben Yaou, R., primary, Stojkovic, T., additional, Cerino, M., additional, Duval, F., additional, Juntas-Morales, R., additional, Nelson, I., additional, Beuvin, M., additional, Lacene, E., additional, Sternberg, D., additional, Nectoux, J., additional, Martin-Negrier, M., additional, Bartoli, M., additional, Cossee, M., additional, Leturcq, F., additional, Sole, G., additional, Krahn, M., additional, Romero, N., additional, Eymard, B., additional, and Bonne, G., additional

Published
2019
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27. P.245Morphological, ultrastructural and western blot analysis in adult and child with PLEC1-related myopathy

Author

Beuvin, M., primary, Lacène, E., additional, Labasse, C., additional, Brochier, G., additional, Madelaine, A., additional, Ben Yaou, R., additional, Stojkovic, T., additional, Sole, G., additional, Juntas-Morales, R., additional, Martin-Negrier, M., additional, Duval, F., additional, Nelson, I., additional, Nectoux, J., additional, Leturcq, F., additional, Cossée, M., additional, Sternberg, D., additional, Eymard, B., additional, Bonne, G., additional, Evangelista, T., additional, and Romero, N., additional

Published
2019
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28. NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

Author

Morales, R. Juntas, primary, Cances, C., additional, Cintas, P., additional, Renard, D., additional, Sole, G., additional, Espil, C., additional, Rivier, F., additional, Louvier, U. Walther, additional, Uro-Coste, E., additional, Perrin, A., additional, Leboucq, N., additional, Rigau, V., additional, Arne-Bes, M., additional, Duval, F., additional, Acket, B., additional, Peyroulan, D., additional, Theze, C., additional, Pegeot, H., additional, and Cossee, M., additional

Published
2018
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31. Efficiency of next generation sequencing of a large panel of genes for diagnosis of children with myopathies and muscular dystrophies, especially for early and/or typical cases

Author

Lacourt, D., primary, Yauy, K., additional, Walther-Louvier, U., additional, Juntas-Morales, R., additional, Cances, C., additional, Espil, C., additional, Sole, G., additional, Arné-Bes, M., additional, Cintas, P., additional, Uro-coste, E., additional, Negrier, M. Martin, additional, Rigau, V., additional, Bieth, E., additional, Goizet, C., additional, Koenig, M., additional, Rivier, F., additional, and Cossée, M., additional

Published
2017
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32. Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: An observational cohort study

Author

Patterson, M. C, Mengel, E, Vanier, M. T, Schwierin, B, Muller, A, Cornelisse, P, Pineda, M, Amado-Fondo, A, Amraoui, Y, Andria, G, Arellano, M, Audoin, B, Azcona, C, Barr, C, Baruteau, J, Baumgartner, C, Bell, L, Bembi, B, Benneddif, K, Bernard, G, Bobocea, N, Bodzioch, M, Boettcher, T, Bonnan, M, Broue, P, Bruni, A, Caceres, M, Camino, R, Campbell, E, Cances, C, Cannell, P, Cesar, J, Chabrol, B, Chakrapani, A, Colao, R, Collet, A, Corsetti, T, Cousins, A, Covanis, A, Cox, T, Cuisset, J. M, Dardis, A, Das, A, Deegan, P, Dengler, T, Deodato, F, Derralynn, H, Di Donato, I, Di Rocco, M, Dinopoulos, A, Pakiela, D, Eckehard, S, Engelen, M, Eyer, D, Fecarotta, S, Federico, A, Filla, A, Fiumara, A, Fonseca, M. J, Gabrielli, O, Garcia, T, Garrote, J, Gissen, P, Giugliani, L, Greenberg, C, Heron, B, Hertzberg, C, Higgins, F, Hill, A, Hiwot, T, Hlavata, A, Hörbe-Blindt, A, Howley, E, Hussain, N, Illsinger, S, Imrie, J, Jacklin, E, Jones, S, Jovanovic, A, Kaczmarek, V, Kaphan, E, Kibaek, M, Kleinhans, P, Klünemann, Kh, Koch, S. M, Koegl-Wallner, W, Kolnikova, M, Korenke, G. C, Korinthenberg, R, Kumari, S, Lachmann, R, Lee Ann, L, Likopoulou, L, Lilienthal, E, Link, B, Lippold, M, Lopez-Laso, E, Luecke, T, Lundgren, J, Mackrell, M, Madruga, M, Maletta, R, Malinova, V, Manners, J, Marinei, R, Marquardt, T, Martins, E, Martins, A. M, Martins, N, Mcalister, L, Mccabe, A, Mckie, M, Mcmahon, S, Meehan, M, Meldgaard Lund, A, Mendozah, C, Meyer, A, Mielke, S, Milligan, A, Mir, P, Moisa, M, Mombelli, C, Morris, L, Müller Vom Hagen, J, Munoz, B, Murphy, E, Nagarajan, L, Neto, P. B, Nevsimalova, S, Nia, S, Nicolai, J, Niemann, D, Niktari, G, O'Callaghan, M. D. M, Paucar-Arce, M, Peers, K, Peintinger, L, Peralta, M, Pérez, J, Perez-Poyato, M, Petrariu, A, Puschmann, A, Raiman, J, Rask, O, Rataj, J, Raymond-Gaynor, C, Reichelt, G, Ribeiro, E, Riches, V, Roberts, A, Roelants, J, Rohrbach, M, Rokicki, D, Rolfs, A, Russo, C, Rutsch, F, Saleem, R, Santos, M, Schmutz, P, Schwahn, B, Sedel, F, Semotok, J, Sharma, R, Silska, S, Silva, A, Simmons, L, Sivera, R, Skorpen, J, Sole, G, Souza, C, Stadlober-Degwerth, M, Starling, J, Temudo, T, Tomas, M, Tranchant, C, Uziel, G, Valayannopoulous, V, Van Den Hout, H, Van Der Tol, L, Van Spronsen, F, Vellodi, A, Verdu, A, Vilchez, J. J, Vinaixa, A, Visser, G, Voelker, J, Waldek, S, Walter, A, Walterfang, M, Wein, U, Widner, H, Wilcke, C, Wildish, L, Wraith, E, Wright, N, Xaidara, A, Yamamoto, M, Zallocco, F, Zielke, S, Patterson, Mc, Mengel, E, Vanier, Mt, Schwierin, B, Muller, A, Cornelisse, P, Pineda, M, Registry investigators, Npc, Filla, Alessandro, Russo, CINZIA VALERIA, Neurology, Paediatric Neurology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ANS - Amsterdam Neuroscience, and Graduate School

Subjects
Male, Pediatrics, Neurology, Cohort Studies, 0302 clinical medicine, Miglustat, Medicine, Enzyme Inhibitor, Genetics(clinical), Pharmacology (medical), Prospective Studies, Young adult, Enzyme Inhibitors, Prospective cohort study, Child, Genetics (clinical), Medicine(all), 0303 health sciences, Medicine (all), Niemann-Pick disease type C, Niemann-Pick Disease, Type C, General Medicine, 3. Good health, Treatment Outcome, Child, Preschool, Cohort, Disease Progression, Female, medicine.drug, Cohort study, Human, Adult, medicine.medical_specialty, Registry, 1-Deoxynojirimycin, Adolescent, 03 medical and health sciences, Young Adult, Disease registry, Swallowing, Humans, 030304 developmental biology, business.industry, Research, Prospective Studie, Cohort Studie, business, 030217 neurology & neurosurgery
Abstract

BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological degeneration, where the rate of neurological disease progression varies depending on age at neurological onset. We report longitudinal data on functional disease progression and safety observations in patients in the international NPC Registry who received continuous treatment with miglustat. METHODS: The NPC Registry is a prospective observational cohort of NP-C patients. Enrolled patients who received ≥1 year of continuous miglustat therapy (for ≥90 % of the observation period, with no single treatment interruption >28 days) were included in this analysis. Disability was measured using a scale rating the four domains, ambulation, manipulation, language and swallowing from 0 (normal) to 1 (worst). Neurological disease progression was analysed in all patients based on: 1) annual progression rates between enrolment and last follow up, and; 2) categorical analysis with patients categorised as 'improved/stable' if ≥3/4 domain scores were lower/unchanged, and as 'progressed' if

Published
2015

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

Published
2016
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34. OPALE: A patient registry for laminopathies and emerinopathies in France

Author

Yaou, R. Ben, primary, Vigouroux, C., additional, Quijano-Roy, S., additional, Campanna-Salort, E., additional, Cintas, P., additional, Cuisset, J., additional, Juntas-Morales, R., additional, Labombarda, F., additional, Nadaj-Pakleza, A., additional, Pereon, Y., additional, Sole, G., additional, Vantyghem, M., additional, Richard, P., additional, Leturcq, F., additional, De Sandre-Giovannol, A., additional, Duboc, D., additional, Wahbi, K., additional, Eymard, B., additional, and Bonne, G., additional

Published
2016
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35. The wide POLG-related spectrum: An integrated view

Author

Béreau, M., primary, Anheim, M., additional, Echaniz-Laguna, A., additional, Magot, A., additional, Verny, C., additional, Goideau-Sevrain, M., additional, Barth, M., additional, Amati-Bonneau, P., additional, Allouche, S., additional, Ayrignac, X., additional, Bédat-Millet, A.-L., additional, Guyant-Maréchal, L., additional, Kuntzer, T., additional, Ochsner, F., additional, Petiot, P., additional, Vial, C., additional, Omer, S., additional, Sole, G., additional, Taieb, G., additional, Carvalho, N., additional, Tio, G., additional, Kremer, S., additional, Acquaviva-Bourdain, C., additional, de Camaret, B. Mousson, additional, and Tranchant, C., additional

Published
2016
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37. Fetal phenotypes in otopalatodigital spectrum disorders

Author

Naudion, S., primary, Moutton, S., additional, Coupry, I., additional, Sole, G., additional, Deforges, J., additional, Guerineau, E., additional, Hubert, C., additional, Deves, S., additional, Pilliod, J., additional, Rooryck, C., additional, Abel, C., additional, Le Breton, F., additional, Collardeau‐Frachon, S., additional, Cordier, M.P., additional, Delezoide, A.L., additional, Goldenberg, A., additional, Loget, P., additional, Melki, J., additional, Odent, S., additional, Patrier, S., additional, Verloes, A., additional, Viot, G., additional, Blesson, S., additional, Bessières, B., additional, Lacombe, D., additional, Arveiler, B., additional, Goizet, C., additional, and Fergelot, P., additional

Published
2015
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43. 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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49. 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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50. Muscle-relevant genes marked by stable H3K4me2/3 profiles and enriched MyoD binding during myogenic differentiation.

Author

Huanhuan Cui, Vikas Bansal, Marcel Grunert, Barbora Malecova, Alessandra Dall'Agnese, Lucia Latella, Sole Gatto, Tammy Ryan, Kerstin Schulz, Wei Chen, Cornelia Dorn, Pier Lorenzo Puri, and Silke R Sperling

Subjects
Medicine, Science
Abstract

Post-translational modifications of histones play a key role in the regulation of gene expression during development and differentiation. Numerous studies have shown the dynamics of combinatorial regulation by transcription factors and histone modifications, in the sense that different combinations lead to distinct expression outcomes. Here, we investigated gene regulation by stable enrichment patterns of histone marks H3K4me2 and H3K4me3 in combination with the chromatin binding of the muscle tissue-specific transcription factor MyoD during myogenic differentiation of C2C12 cells. Using k-means clustering, we found that specific combinations of H3K4me2/3 profiles over and towards the gene body impact on gene expression and marks a subset of genes important for muscle development and differentiation. By further analysis, we found that the muscle key regulator MyoD was significantly enriched on this subset of genes and played a repressive role during myogenic differentiation. Among these genes, we identified the pluripotency gene Patz1, which is repressed during myogenic differentiation through direct binding of MyoD to promoter elements. These results point to the importance of integrating histone modifications and MyoD chromatin binding for coordinated gene activation and repression during myogenic differentiation.

Published
2017
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