Search

Your search keyword '"Sole G"' showing total 475 results
Start Over Author "Sole G"
475 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
Full Text
View/download PDF

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
Full Text
View/download PDF

13. 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
Full Text
View/download PDF

15. 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
Full Text
View/download PDF

17. Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

Author

Sole, G., Coupry, I., Rooryck, C., Guerineau, E., Martins, F., Deves, S., Hubert, C., Souakri, N., Boute, O., Marchal, C., Faivre, L., Landre, E., Debruxelles, S., Dieux-Coeslier, A., Boulay, C., Chassagnon, S., Michel, V., Routon, M.-C., Toutain, A., Philip, N., Lacombe, D., Villard, L., Arveiler, B., and Goizet, C.

Subjects
Gene mutations -- Research, Nervous system -- Degeneration, Nervous system -- Development and progression, Nervous system -- Genetic aspects, Nervous system -- Research, Health, Psychology and mental health
Published
2009

18. 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
Full Text
View/download PDF

22. 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
Full Text
View/download PDF

24. 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

25. 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

26. 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

27. 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

28. 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

30. 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

34. The predicted and observed decline in onchocerciasis infection during 14 years of successful control of Simulium spp. in West Africa

Author

Remme, J., De Sole, G., and van Oortmarssen, G.J.

Subjects
Onchocerciasis Control Programme -- Reports, Blackfly -- Control, Onchocerciasis -- Demographic aspects, Onchocerciasis -- Control, West Africa -- Health aspects
Abstract

The decline in the incidence of river blindness (onchocerciasis), caused by infection by the parasite Onchocerca volvulus, has necessitated the control of this parasite, and of the means of transmission (vector), which is blackflies of the Simulium species. Since it began in 1975, the Onchocerciasis Control Program (OCP) has worked to break the chain of transmission by vector control and to reduce levels of the parasite. The period required for vector control has depended on the reproductive cycle of the parasite and the longevity of their microfilaria. The result of tests for the parasite in humans indicated persistence for as long as 9 to 11 years after the vector was eliminated in one area of the OCP. No active infection was noted in another area 18 years after the control program was instituted. Several models were developed to help predict the decline of the disease in relation to vector control. A host-parasite model, based on the simulation of life histories of the human host and adult female worms, was selected. The program was conducted in 55 villages in the area of the OCP, and regular tests assessed the intensity of the infection by measuring the community microfilarial load (CMFL). The level of the CMFL was directly related to the severity of eye infections and the prevalence of the disease. The predicted outcome was similar to the actual outcome. After 14 years of vector control, the level of onchocerciasis has fallen so low that larviciding activity may be safely discontinued. The development of microsimulation has led to the creation of comprehensive transmission models that allow the simultaneous simulation of human and parasite populations, intervention schemes, and studies of the dynamics of the vector populations. (Consumer Summary produced by Reliance Medical Information, Inc.), The predicted and observed decline in onchocerciasis infection during 14 years of successful control of Simulium spp. In West Africa Introduction Since it began in 1975, the strategy of the [...]

Published
1990

35. 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
Full Text
View/download PDF

38. 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
Full Text
View/download PDF

39. 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
Full Text
View/download PDF

41. 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
Full Text
View/download PDF

46. 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
Full Text
View/download PDF

49. Shoulder external- and internal-rotation isokinetic strength in master's swimmers.

Author

West D, Sole G, and Sullivan SJ

Abstract

Objectives: To establish muscle-strength and -balance profiles for shoulder external rotation (ER) and internal rotation (IR) in master's swimmers. Design: Cross-sectional study. Setting: Laboratory. Participants: Six male and seven female master's swimmers and a matched control group. Measurements: Concentric and eccentric ER and IR shoulder movements were recorded (Kin-Com(TM) isokinetic dynamometer). Peak-torque values, concentric ER:IR ratios, eccentric ER:IR (conventional) ratios, and eccentric ER:concentric IR (functional) ratios were examined between groups. Results: Mean peak-torque values ranged from 21.23 to 37.69 N x m for the swimmers, which, although 15% to 27% greater than those of the controls, were not statistically different. Conventional (0.78:0.86) and functional (1.06:1.17) ratios did not differ between groups. Conclusions: These data will contribute to the development of guidelines for assessing shoulder-muscle strength in Master's swimmers. [ABSTRACT FROM AUTHOR]

Published
2005
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results