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1. A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy

Author

Barrois, R., Barnerias, C., Deladrière, E., Leloup-Germa, V., Tervil, B., Audic, F., Boulay, C., Cances, C., Cintas, P., Davion, J.B., Espil-Taris, C., Manel, V., Pereon, Y., Piarroux, J., Quijano Roy, S., Vuillerot, C., Walther-Louvier, U., Desguerre, I., and Gitiaux, C.

Published
2023
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3. Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study (Neurology and Therapy, (2023), 12, 2, (543-557), 10.1007/s40120-023-00444-1)

Author

Chiriboga, C. A., Bruno, C., Duong, T., Fischer, D., Mercuri, Eugenio Maria, Kirschner, J., Kostera-Pruszczyk, A., Jaber, B., Gorni, K., Kletzl, H., Carruthers, I., Martin, Craig, Warren, F., Scalco, R. S., Wagner, K. R., Muntoni, F., Deconinck, N., Balikova, I., Joniau, I., Tahon, V., Wittevrongel, S., Goemans, N., Cassiman, C., Prove, L., Vancampenhout, L., van den Hauwe, M., Van Impe, A., Cances, C., Soler, V., De La Morandais, L. M., Vovan, D., Cintas, P., Auriol, F., Mus, M., Alphonsa, G., Bellio, V., Gil Mato, O., Flamein, F., Evrard, C., Ziouche, A., Bouacha-Allou, I., Debruyne, P., Derlyn, G., Defoort, S., Leroy, F., Danjoux, L., Desguerre, I., Bremond-Gignac, D., Rateuax, M., Deladriere, E., Vuillerot, C., Veillerot, Q., Sibille-Dabadi, B., Barriere, A., Tinat, M., Saidi, M., Fontaine, S., De Montferrand, C., Le-Goff, L., Portefaix, A., Louvier, U. W., Duval, P. -A., Caradec, P., Touati, S., Herranz, A. Z., Bollig, J., Molnar, F., Vogt, S., Pechmann, A., Schorling, D., Wider, S., Kolbel, H., Schara, U., Braun, F., Gangfuss, A., Hagenacker, T., Eckstein, A., Dekowski, D., Oeverhaus, M., Stoehr, M., Andres, B., Smuda, K., Bertini, Enrico Silvio, D'Amico, A., Petroni, S., Valente, Paola, Bonetti, A. M., Carlesi, A., Mizzoni, I., Pedemonte, M., Brolatti, N., Priolo, E., Rao, G., Sposetti, L., Morando, S., Comi, G., Osnaghi, S., Minorini, V., Abbati, F., Fassini, F., Foa, M., Lopopolo, M. A., Magri, F., Govoni, A., Meneri, M., Parente, V., Antonaci, Laura, Pera, Maria Carmela, Pane, Marika, Amorelli, Giulia Maria, Barresi, C., D'Amico, Guglielmo, Orazi, Lorenzo, Coratti, Giorgia, De Sanctis, Roberto, Vita, G., Sframeli, M., Vita, G. L., Aragona, P., Inferrera, L., Postorino, E. I., Montanini, D., Di Bella, V., Donato, C., Cala, E., Van der Pol, L., Aalbers, J., de Boer, J., Imhof, S., Cooijmans, P., Ruyten, T., Van Der Woude, D., Klimaszewska, B., Romanczak, D., Gierlak-Wojcicka, Z., Kepa, M., Sikorski, A., Sobieraj, M., Lusakowska, A., Kierdaszuk, B., Czeczko, K., Henzi, B., Gugleta, K., Kusnyerik, A., Siems, P., Akos, S., Frei, N., Seppi, C., Haschke, C. W., Guglieri, M., Straub, V., Bell, R., Nassar, M., Page, S., Clarke, M. P., Regan, A., Mayhew, A., Lofra, R. M., Parasuraman, D., Bruschi, Sara, Ghauri, A. -J., Castle, A., Naqvi, S., Patt, N., Scoto, M., Trucco, F., Henderson, R. H., Kukadia, R., Moore, W., Milev, E., Rye, C., Selby, V., Wolfe, A., Darras, B., Baglieri, A. M., Fulton, A., Lucken, C., Maczek, E., Pasternak, A., Kane, S., Bautista, M. E. M., Frommer, E., Pensec, N., Salazar, R., Yochai, C., Rodrigues-Torres, R., Chawla, M., Day, J., Beres, S., Gee, R., Young, S. D., Finkel, R., Nazario, A. N., Fasiuddin, A., Wells, J. A., Wilson, J., Berry, D., Rizzo, V., Duke, J., Monduy, M., Collado, J., Mercuri E. (ORCID:0000-0002-9851-5365), Martin C., Bertini E., Valente P., Antonaci L., Pera M. C. (ORCID:0000-0001-6777-1721), Pane M. (ORCID:0000-0002-4851-6124), Amorelli G. M., D'Amico G., Orazi L., Coratti G. (ORCID:0000-0001-6666-5628), De Sanctis R., Bruschi S., Chiriboga, C. A., Bruno, C., Duong, T., Fischer, D., Mercuri, Eugenio Maria, Kirschner, J., Kostera-Pruszczyk, A., Jaber, B., Gorni, K., Kletzl, H., Carruthers, I., Martin, Craig, Warren, F., Scalco, R. S., Wagner, K. R., Muntoni, F., Deconinck, N., Balikova, I., Joniau, I., Tahon, V., Wittevrongel, S., Goemans, N., Cassiman, C., Prove, L., Vancampenhout, L., van den Hauwe, M., Van Impe, A., Cances, C., Soler, V., De La Morandais, L. M., Vovan, D., Cintas, P., Auriol, F., Mus, M., Alphonsa, G., Bellio, V., Gil Mato, O., Flamein, F., Evrard, C., Ziouche, A., Bouacha-Allou, I., Debruyne, P., Derlyn, G., Defoort, S., Leroy, F., Danjoux, L., Desguerre, I., Bremond-Gignac, D., Rateuax, M., Deladriere, E., Vuillerot, C., Veillerot, Q., Sibille-Dabadi, B., Barriere, A., Tinat, M., Saidi, M., Fontaine, S., De Montferrand, C., Le-Goff, L., Portefaix, A., Louvier, U. W., Duval, P. -A., Caradec, P., Touati, S., Herranz, A. Z., Bollig, J., Molnar, F., Vogt, S., Pechmann, A., Schorling, D., Wider, S., Kolbel, H., Schara, U., Braun, F., Gangfuss, A., Hagenacker, T., Eckstein, A., Dekowski, D., Oeverhaus, M., Stoehr, M., Andres, B., Smuda, K., Bertini, Enrico Silvio, D'Amico, A., Petroni, S., Valente, Paola, Bonetti, A. M., Carlesi, A., Mizzoni, I., Pedemonte, M., Brolatti, N., Priolo, E., Rao, G., Sposetti, L., Morando, S., Comi, G., Osnaghi, S., Minorini, V., Abbati, F., Fassini, F., Foa, M., Lopopolo, M. A., Magri, F., Govoni, A., Meneri, M., Parente, V., Antonaci, Laura, Pera, Maria Carmela, Pane, Marika, Amorelli, Giulia Maria, Barresi, C., D'Amico, Guglielmo, Orazi, Lorenzo, Coratti, Giorgia, De Sanctis, Roberto, Vita, G., Sframeli, M., Vita, G. L., Aragona, P., Inferrera, L., Postorino, E. I., Montanini, D., Di Bella, V., Donato, C., Cala, E., Van der Pol, L., Aalbers, J., de Boer, J., Imhof, S., Cooijmans, P., Ruyten, T., Van Der Woude, D., Klimaszewska, B., Romanczak, D., Gierlak-Wojcicka, Z., Kepa, M., Sikorski, A., Sobieraj, M., Lusakowska, A., Kierdaszuk, B., Czeczko, K., Henzi, B., Gugleta, K., Kusnyerik, A., Siems, P., Akos, S., Frei, N., Seppi, C., Haschke, C. W., Guglieri, M., Straub, V., Bell, R., Nassar, M., Page, S., Clarke, M. P., Regan, A., Mayhew, A., Lofra, R. M., Parasuraman, D., Bruschi, Sara, Ghauri, A. -J., Castle, A., Naqvi, S., Patt, N., Scoto, M., Trucco, F., Henderson, R. H., Kukadia, R., Moore, W., Milev, E., Rye, C., Selby, V., Wolfe, A., Darras, B., Baglieri, A. M., Fulton, A., Lucken, C., Maczek, E., Pasternak, A., Kane, S., Bautista, M. E. M., Frommer, E., Pensec, N., Salazar, R., Yochai, C., Rodrigues-Torres, R., Chawla, M., Day, J., Beres, S., Gee, R., Young, S. D., Finkel, R., Nazario, A. N., Fasiuddin, A., Wells, J. A., Wilson, J., Berry, D., Rizzo, V., Duke, J., Monduy, M., Collado, J., Mercuri E. (ORCID:0000-0002-9851-5365), Martin C., Bertini E., Valente P., Antonaci L., Pera M. C. (ORCID:0000-0001-6777-1721), Pane M. (ORCID:0000-0002-4851-6124), Amorelli G. M., D'Amico G., Orazi L., Coratti G. (ORCID:0000-0001-6666-5628), De Sanctis R., and Bruschi S.

Abstract

In this article the JEWELFISH Study Group members were missing in the Acknowledgements. The collaborator names are corrected in the supplementary material and the complete list is given below. In Table 1, footnote symbol ‘g’ was incorrectly written as ‘f’ in the entries Non-sitters—2 (14)g and Sitters-12 (86)g under column Onasemnogene abeparvovec of section Motor function, n (%)f. The original article has been corrected.

Published
2023

9. Variabilité phénotypique et corrélations génotype-phénotype des dystrophinopathies : contribution des banques de données

Author

Humbertclaude, V., Hamroun, D., Picot, M.-C., Bezzou, K., Bérard, C., Boespflug-Tanguy, O., Bommelaer, C., Campana-Salort, E., Cances, C., Chabrol, B., Commare, M.-C., Cuisset, J.-M., de Lattre, C., Desnuelle, C., Echenne, B., Halbert, C., Jonquet, O., Labarre-Vila, A., N’Guyen-Morel, M.-A., Pages, M., Pepin, J.-L., Petitjean, T., Pouget, J., Ollagnon-Roman, E., Richelme, C., Rivier, F., Sacconi, S., Tiffreau, V., Vuillerot, C., Béroud, C., Tuffery-Giraud, S., and Claustres, M.

Published
2013
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11. SMA CLINICAL DATA

Author

Zanoteli, E., primary, Cances, C., additional, Vlodavets, D., additional, Comi, G., additional, Masson, R., additional, Mazurkiewicz-Bełdzińska, M., additional, Saito, K., additional, Dodman, A., additional, El-Khairi, M., additional, Gorni, K., additional, Gravestock, I., additional, Hoffart, J., additional, Scalco, R., additional, and Darras, B., additional

Published
2021
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12. SMA – OUTCOME MEASURES AND REGISTRIES

Author

de la Banda, M. Gomez Garcia, primary, Grimaldi-Bensouda, L., additional, Urtizberea, J., additional, Behin, A., additional, Vuillerot, C., additional, Saugier-Veber, P., additional, Audic, F., additional, Barnerias, C., additional, Cances, C., additional, Campana-Salort, E., additional, Espil, C., additional, Laforet, P., additional, Laugel, V., additional, Pereon, Y., additional, Sacconi, S., additional, Stojkovic, T., additional, Tard, C., additional, Chabrol, B., additional, Desguerre, I., additional, and Quijano-Roy, S., additional

Published
2021
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15. SMA - CLINICAL

Author

De Lucia, S., primary, Phelep, A., additional, Seferian, A., additional, Foyer, P., additional, Walther-Louvier, U., additional, Durigneux, J., additional, Cances, C., additional, Ropars, J., additional, Vuillerot, C., additional, Servais, L., additional, and Boespflug, O., additional

Published
2020
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16. SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES

Author

Gomez-Garcia de la Banda, M., primary, Grimaldi, L., additional, Urtizberea, J., additional, Behin, A., additional, Vuillerot, C., additional, Saugier-Veber, P., additional, Audic, F., additional, Barnerias, C., additional, Cances, C., additional, Campana-Salort, E., additional, Spil, C., additional, Laforet, P., additional, Laugel, V., additional, Pereon, Y., additional, Sacconi, S., additional, Stojkovic, T., additional, Tard, C., additional, Chabrol, B., additional, Desguerre, I., additional, and Quijano-Roy, S., additional

Published
2020
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17. SMA – THERAPY

Author

Goff, L. Le, primary, Seferian, A., additional, Phelep, A., additional, Rippert, P., additional, Mathieu, M., additional, Cances, C., additional, de Lattre, C., additional, Durigneux, J., additional, Gousse, G., additional, Quijano-Roy, S., additional, Sarret, C., additional, Servais, L., additional, and Vuillerot, C., additional

Published
2020
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18. Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: Results from the International TOSCA Study

Author

Jansen, A.C. Belousova, E. Benedik, M.P. Carter, T. Cottin, V. Curatolo, P. D'Amato, L. D'Augères, G.B. De Vries, P.J. Ferreira, J.C. Feucht, M. Fladrowski, C. Hertzberg, C. Jozwiak, S. Lawson, J.A. MacAya, A. Marques, R. Nabbout, R. O'Callaghan, F. Qin, J. Sander, V. Sauter, M. Shah, S. Takahashi, Y. Touraine, R. Youroukos, S. Zonnenberg, B. Kingswood, J.C. Fladrowsk, C. Shinohara, N. Horie, S. Kubota, M. Tohyama, J. Imai, K. Kaneda, M. Kaneko, H. Uchida, Y. Kirino, T. Endo, S. Inoue, Y. Uruno, K. Serdaroglu, A. Yapici, Z. Anlar, B. Altunbasak, S. Lvova, O. Belyaev, O.V. Agranovich, O. Levitina, E.V. Maksimova, Y.V. Karas, A. Jiang, Y. Zou, L. Xu, K. Zhang, Y. Luan, G. Zhang, Y. Wang, Y. Jin, M. Ye, D. Liao, W. Zhou, L. Liu, J. Liao, J. Yan, B. Deng, Y. Jiang, L. Liu, Z. Huang, S. Li, H. Kim, K. Chen, P.-L. Lee, H.-F. Tsai, J.-D. Chi, C.-S. Huang, C.-C. Riney, K. Yates, D. Kwan, P. Likasitwattanakul, S. Nabangchang, C. Krisnachai Chomtho, L.T. Katanyuwong, K. Sriudomkajorn, S. Wilmshurst, J. Segel, R. Gilboa, T. Tzadok, M. Fattal-Valevski, A. Papathanasopoulos, P. Papavasiliou, A.S. Giannakodimos, S. Gatzonis, S. Pavlou, E. Tzoufi, M. Vergeer, A.M.H. Dhooghe, M. Verhelst, H. Roelens, F. Nassogne, M.C. Defresne, P. De Waele, L. Leroy, P. Demonceau, N. Legros, B. Van Bogaert, P. Ceulemans, B. Dom, L. Castelnau, P. De Saint Martin, A. Riquet, A. Milh, M. Cances, C. Pedespan, J.-M. Ville, D. Roubertie, A. Auvin, S. Berquin, P. Richelme, C. Allaire, C. Gueden, S. The Tich, S.N. Godet, B. Ruiz Falco Rojas, M.L. Planas, J.C. Bermejo, A.M. Dura, P.S. Aparicio, S.R. Martinez Gonzalez, M.J. Pison, J.L. Blanco Barca, M.O. Laso, E.L. Luengo, O.A. Aguirre Rodriguez, F.J. Dieguez, I.M. Salas, A.C. Carrera, I.M. Salcedo, E.M. Yoldi Petri, M.E. Candela, R.C. Da Conceicao Carrilho, I. Vieira, J.P. Da Silva Oliveira Monteiro, J.P. Santos De Oliveira Ferreira Leao, M.J. Marceano Ribeiro Luis, C.S. Mendonca, C.P. Endziniene, M. Strautmanis, J. Talvik, I. Canevini, M.P. Gambardella, A. Pruna, D. Buono, S. Fontana, E. Dalla Bernardina, B. Burloiu, C. Bacos Cosma, I.S. Vintan, M.A. Popescu, L. Zitterbart, K. Payerova, J. Bratsky, L. Zilinska, Z. Gruber-Sedlmayr, U. Baumann, M. Haberlandt, E. Rostasy, K. Pataraia, E. Elmslie, F. Johnston, C.A. Crawford, P. Uldall, P. Dahlin, M. Uvebrant, P. Rask, O. Bjoernvold, M. Brodtkorb, E. Sloerdahl, A. Solhoff, R. Gilje Jaatun, M.S. Mandera, M. Radzikowska, E.J. Wysocki, M. Fischereder, M. Kurlemann, G. Wilken, B. Wiemer-Kruel, A. Budde, K. Marquard, K. Knuf, M. Hahn, A. Hartmann, H. Merkenschlager, A. Trollmann, R. on behalf of TOSCA Consortium TOSCA Investigators

Abstract

The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC. Of 2,211 patients enrolled in TOSCA, 220 of the 803 adults (27.4%) ever had a SEGA. Of 186 patients with SEGA still ongoing in adulthood, 153 (82.3%) remained asymptomatic, and 33 (17.7%) were reported to ever have developed symptoms related to SEGA growth. SEGA growth since the previous scan was reported in 39 of the 186 adults (21%) with ongoing SEGA. All but one patient with growing SEGA had mutations in TSC2. Fourteen adults (2.4%) were newly diagnosed with SEGA during follow-up, and majority had mutations in TSC2. Our findings suggest that surveillance for new or growing SEGA is warranted also in adulthood, particularly in patients with mutations in TSC2. © 2019 Jansen, Belousova, Benedik, Carter, Cottin, Curatolo, D'Amato, Beaure d'Augères, de Vries, Ferreira, Feucht, Fladrowski, Hertzberg, Jozwiak, Lawson, Macaya, Marques, Nabbout, O'Callaghan, Qin, Sander, Sauter, Shah, Takahashi, Touraine, Youroukos, Zonnenberg and Kingswood.

Published
2019

19. Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

Author

Nabbout, R, Belousova, E, Benedik, Mp, Carter, T, Cottin, V, Curatolo, P, Dahlin, M, Damato, L, D'Augeres, Gb, de Vries, Pj, Ferreira, Jc, Feucht, M, Fladrowski, C, Hertzberg, C, Jozwiak, S, Lawson, Ja, Macaya, A, Marques, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, Touraine, R, Youroukos, S, Zonnenberg, B, Jansen, A, Kingswood, Jc, Shinohara, N, Horie, S, Kubota, M, Tohyama, J, Imai, K, Kaneda, M, Kaneko, H, Uchida, Y, Endo, S, Inoue, Y, Uruno, K, Serdaroglu, A, Yapici, Z, Anlar, B, Altunbasak, S, Lvova, O, Valeryevich Belyaev, O, Agranovich, O, Vladislavovna Levitina, E, Vladimirovna Maksimova, Y, Karas, A, Jiang, Y, Zou, L, Xu, K, Zhang, Y, Luan, G, Wang, Y, Jin, M, Ye, D, Liao, W, Zhou, L, Liu, J, Liao, J, Yan, B, Deng, Y, Jiang, L, Liu, Z, Huang, S, Li, H, Kim, K, Chen, P, Lee, H, Tsai, J, Chi, C, Huang, C, Riney, K, Yates, D, Kwan, P, Likasitwattanakul, S, Nabangchang, C, Thampratankul Krisnachai Chomtho, L, Katanyuwong, K, Sriudomkajorn, S, Wilmshurst, J, Segel, R, Gilboa, T, Tzadok, M, Fattal-Valevski, A, Papathanasopoulos, P, Syrigou Papavasiliou, A, Giannakodimos, S, Gatzonis, S, Pavlou, E, Tzoufi, M, Dhooghe, M, Verhelst, H, Roelens, F, Cecile Nassogne, M, Defresne, P, De Waele, L, Leroy, P, Demonceau, N, Van Bogaert, P, Ceulemans, B, Dom, L, Castelnau, P, De Saint Martin, A, Riquet, A, Milh, M, Cances, C, Pedespan, J, Ville, D, Roubertie, A, Auvin, S, Berquin, P, Richelme, C, Allaire, C, Gueden, S, Nguyen The Tich, S, Godet, B, Rojas, Mlrf, Planas, Jc, Bermejo, Am, Dura, Ps, Aparicio, Sr, Gonzalez, Mjm, Pison, Jl, Blanco Barca, Mo, Laso, El, Luengo, Oa, Rodriguez, Fja, Dieguez, Im, Salas, Ac, Carrera, Im, Salcedo, Em, Petri, Mey, Candela, Rc, Carrilho, Idc, Vieira, Jp, Monteiro, Jpdso, Leao, Mjsdof, Luis, Csmr, Pires Mendonca, C, Endziniene, M, Strautmanis, J, Talvik, I, Canevini, Mp, Gambardella, A, Pruna, D, Buono, S, Fontana, E, Bernardina, Bd, Burloiu, C, Cosma, Isb, Vintan, Ma, Popescu, L, Zitterbart, K, Payerova, J, Bratsky, L, Zilinska, Z, Gruber-Sedlmayr, U, Haberlandt, E, Rostasy, K, Pataraia, E, Elmslie, F, Ann Johnston, C, Crawford, P, Uldall, P, Uvebrant, P, Rask, O, Bjoernvold, M, Sloerdahl, A, Solhoff, R, Jaatun, Msg, Mandera, M, Radzikowska, Ej, Wysocki, M, Fischereder, M, Kurlemann, G, Wilken, B, Wiemer-Kruel, A, Budde, K, Marquard, K, Knuf, M, Hahn, A, Hartmann, H, Merkenschlager, A, and Trollmann, R

Subjects
0301 basic medicine, medicine.medical_specialty, Pediatrics, Neurology, Disease, tuberous sclerosis complex, 030105 genetics & heredity, registry, 03 medical and health sciences, Tuberous sclerosis, Epilepsy, 0302 clinical medicine, Intellectual disability, medicine, Seizure control, TOSCA, business.industry, epilepsy, medicine.disease, Settore MED/39 - Neuropsichiatria Infantile, 3. Good health, medicine.anatomical_structure, Cohort, Full‐length Original Research, Neurology (clinical), TSC1, business, 030217 neurology & neurosurgery
Abstract

Summary Objective To present the baseline data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with emphasis on the characteristics of epilepsies associated with tuberous sclerosis complex (TSC). Methods Retrospective and prospective patients’ data on all aspects of TSC were collected from multiple countries worldwide. Epilepsy variables included seizure type, age at onset, type of treatment, and treatment outcomes and association with genotype, seizures control, and intellectual disability. As for noninterventional registries, the study protocol did not specify any particular clinical instruments, laboratory investigations, or intervention. Evaluations included those required for diagnosis and management following local best practice. Results Epilepsy was reported in 83.6% of patients (1852/2216) at baseline; 38.9% presented with infantile spasms and 67.5% with focal seizures. The mean age at diagnosis of infantile spasms was 0.4 year (median

Published
2019

22. 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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23. P.217Patterns of disease progression in patients with spinal muscular atrophy type 3 using the motor function measure

Author

Seferian, A., primary, Annoussamy, M., additional, Chabanon, A., additional, Cances, C., additional, Goemans, N., additional, Daron, A., additional, Schara, U., additional, Pereon, Y., additional, Cuisset, J., additional, El-Khairi, M., additional, Seabrook, T., additional, Vuillerot, C., additional, and Servais, L., additional

Published
2019
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25. Mimetic staggered discretization of incompressible navier–Stokes for barycentric dual mesh

Author

Beltman, R., Anthonissen, M.J.H., Koren, B., Cances, C., Omnes, P., Center for Analysis, Scientific Computing & Appl., and Scientific Computing

Subjects
Engineering drawing, Mimetic finite-volume discretizations · Barycentric dual mesh, Discretization, Mathematical analysis, Mathematics::Analysis of PDEs, Energy–momentum relation, 010103 numerical & computational mathematics, Barycentric coordinate system, 01 natural sciences, Dual mesh, Mathematics::Numerical Analysis, 010101 applied mathematics, Physics::Fluid Dynamics, Barycentric dual mesh, Viscosity, Discrete exterior calculus, Computer Science::Graphics, Mimetic finite-volume discretizations, Compressibility, Polygon mesh, 0101 mathematics, Mathematics
Abstract

A staggered discretization of the incompressible Navier–Stokes equations is presented for polyhedral non orthogonal nonsmooth meshes admitting a barycentric dual mesh. The discretization is constructed by using concepts of discrete exterior calculus. The method strictly conserves mass, momentum and energy in the absence of viscosity.

Published
2017

26. SMA THERAPIES I

Author

Gomez Garcia de la Banda, M., primary, Doré, B., additional, Bénézit, A., additional, Dabaj, I., additional, Mbieleu, B., additional, Pruvost, S., additional, Felter, A., additional, Thiry, T., additional, Tirolien, S., additional, Dupont, P., additional, Bocassin, C., additional, Essid, A., additional, Durigneux, L., additional, Cances, C., additional, Servais, L., additional, Haegy, I., additional, Bergounioux, J., additional, Desguerre, I., additional, Carlier, R., additional, and Quijano-Roy, S., additional

Published
2018
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27. SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Author

Chabanon, A., primary, Annoussamy, M., additional, Daron, A., additional, Péréon, Y., additional, Cances, C., additional, Vuillerot, C., additional, Goemans, N., additional, Cuisset, J., additional, Laugel, V., additional, Schara, U., additional, Gidaro, T., additional, Seferian, A., additional, Lowes, L., additional, Carlier, P., additional, Hogrel, JR., additional, Czech, C., additional, Hermosilla, R., additional, Kwaja, O., additional, and Servais, L., additional

Published
2018
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28. SMA THERAPIES I

Author

Aragon-Gawinska, K., primary, Seferian, A., additional, Vanden Brande, L., additional, Daron, A., additional, Ulinici, A., additional, Deconinck, N., additional, Annoussamy, M., additional, Vuillerot, C., additional, Cances, C., additional, Ropars, J., additional, Chouchane, M., additional, Balintova, Z., additional, Modrzejewska, S., additional, Cuppen, I., additional, Hughes, I., additional, Illingworth, M., additional, Marini-Bettolo, C., additional, White, K., additional, Scoto, M., additional, Gidaro, T., additional, and Servais, L., additional

Published
2018
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29. 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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30. A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy

Author

Goemans, Nathalie, primary, Mercuri, Eugenio, additional, Belousova, Elena, additional, Komaki, Hirofumi, additional, Dubrovsky, Alberto, additional, McDonald, Craig M., additional, Kraus, John E., additional, Lourbakos, Afrodite, additional, Lin, Zhengning, additional, Campion, Giles, additional, Wang, Susanne X., additional, Campbell, Craig, additional, Araujo, A., additional, Bertini, E., additional, Born, P., additional, Cances, C., additional, Chabrol, B., additional, Chae, J.-H., additional, Colomer Oferil, J., additional, Comi, G.P., additional, Cuisset, J.-M., additional, D'Anjou, G., additional, Desguerre, I., additional, Erazo Torricelli, R., additional, Escobar, R., additional, Feder, D., additional, Ferlini, A., additional, Giugliani, R., additional, Henricson, E., additional, Herczegfalvi, A., additional, Jong, Y.-J., additional, Kimura, S., additional, Kirschner, J.-B., additional, Kleinsteuber, K., additional, Kostera-Pruszczyk, A., additional, Kudr, M., additional, Mueller-Felber, W., additional, Niks, E.H., additional, Ogata, K., additional, Palermo, C., additional, Pane, M., additional, Pascual, I., additional, Pereon, Y., additional, Raskin, S., additional, Rasmussen, M., additional, Reed, U., additional, Schara, U., additional, Selby, K., additional, Sobreira, C., additional, Takeshima, Y., additional, Vilchez Padilla, J.J., additional, Vita, G., additional, Vondracek, P., additional, Wiegand, G., additional, and Wilichowski, E., additional

Published
2018
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31. Innovative home activity monitoring in non-ambulant patients with spinal muscular atrophy: a multicenter observational trial

Author

Gargaun, E., primary, Seferian, A., additional, Quicke, G., additional, Moraux, A., additional, Gidaro, T., additional, Gasnier, E., additional, Daron, A., additional, Péréon, Y., additional, Cances, C., additional, Vuillerot, C., additional, Cuisset, J., additional, Toledano, E., additional, Hermosilla, R., additional, Khwaja, O., additional, Czech, C., additional, Chabanon, A., additional, Annoussamy, M., additional, Vissiere, D., additional, and Servais, L., additional

Published
2017
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32. Safety, tolerability and clinical efficacy of nusinersen in SMA type 1 older than 7 months: a prospective study

Author

Aragon-Gawinska, K., primary, Gargaun, E., additional, Seferian, A., additional, Gidaro, T., additional, Gilabert, S., additional, Lilien, C., additional, Vuillerot, C., additional, Cances, C., additional, Daron, A., additional, Marucco, E., additional, De, A., additional, Berliac, L. Flet, additional, Armier, H., additional, Fiedler, L., additional, and Servais, L., additional

Published
2017
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33. First experience of Nusinersen early access program in patients with spinal muscular atrophy type 1

Author

Gargaun, E., primary, Aragon-Gawinska, K., additional, Seferian, A., additional, Gidaro, T., additional, Gilabert, S., additional, Lilien, C., additional, Colcer, A., additional, Boukouti, K., additional, Vuillerot, C., additional, Cances, C., additional, Daron, A., additional, Annousamy, M., additional, De, A., additional, Berliac, L. Flet, additional, Armier, H., additional, Fiedler, L., additional, and Servais, L., additional

Published
2017
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34. Longitudinal data of the European prospective natural history study of patients with type 2 and 3 spinal muscular atrophy

Author

Chabanon, A., primary, Annoussamy, M., additional, Daron, A., additional, Pereon, Y., additional, Cances, C., additional, Vuillerot, C., additional, Goemans, N., additional, Cuisset, J., additional, Laugel, V., additional, Schara, U., additional, Gargaun, E., additional, Gidaro, T., additional, Seferian, A., additional, Lowes, L., additional, Carlier, P., additional, Hogrel, J., additional, Czech, C., additional, Hermosilla, R., additional, Khwaja, O., additional, and Servais, L., additional

Published
2017
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35. 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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38. Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: A national French retrospective study

Author

Freihuber, C., primary, Dahmani, B., additional, Brassier, A., additional, Broue, P., additional, Cances, C., additional, Chabrol, B., additional, Eyer, D., additional, Labarthe, F., additional, Latour, P., additional, Levade, T., additional, Pichard, S., additional, Sevin, C., additional, Vanier, M.T., additional, and Héron, B., additional

Published
2017
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39. RUFIPRAT: A retrospective study on the everyday clinical use of Rufinamide in children with refractory epilepsy

Author

Milleret, C., primary, Losito, E., additional, Auvin, S., additional, Di Meglio, C., additional, Cances, C., additional, Dubois, F., additional, Doudoux, H., additional, Nabbout, R., additional, Milh, M., additional, Verceuil, L., additional, Gokce-Samar, Z., additional, Panagiotakaki, E., additional, and Arzimanoglou, A., additional

Published
2017
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41. 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

44. Baseline data from a European prospective and longitudinal natural history study of patients with type 2 and 3 spinal muscular atrophy – NatHis-SMA

Author

Chabanon, A., primary, Pereon, Y., additional, Daron, A., additional, Cances, C., additional, Vuillerot, C., additional, Fontaine, S., additional, Goemans, N., additional, De Waele, L., additional, Laugel, V., additional, Cuisset, J., additional, Schara, U., additional, Gangfuss, A., additional, Gidaro, T., additional, Gargaun, E., additional, Marquet, A., additional, Villeret, M., additional, Phelep, A., additional, Annoussamy, M., additional, and Servais, L., additional

Published
2016
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45. 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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46. Feasibility of magneto-inertial motion analysis in non-ambulant patients with spinal muscular atrophy

Author

Seferian, A., primary, Quicke, G., additional, Gidaro, T., additional, Gargaun, E., additional, Gasnier, E., additional, Pereon, Y., additional, Daron, A., additional, Cances, C., additional, Vuillerot, C., additional, Goemans, N., additional, Laugel, V., additional, Cuisset, J., additional, Schara, U., additional, Marquet, A., additional, Chabanon, A., additional, Annoussamy, M., additional, Vissiere, D., additional, and Servais, L., additional

Published
2016
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48. Non-ambulant duchenne patients theoretically treatable by exon 53 skipping have severe phenotype

Author

Servais, L, Montus, M, Le Guiner, C, Ben Yaou, R, Annoussamya, M, Moraux, A, Hogrel, J-Y, Seferian, A M, Zehrouni, K, Lo Moing, A-G, Gidaro, T, Vanhulle, C, Laugel, V, Butoianu, N, Cuisset, J-M, Sabouraud, P, Cances, C, Klein, A, Leturcq, F, Moullier, P, Voit, T, Servais, L, Montus, M, Le Guiner, C, Ben Yaou, R, Annoussamya, M, Moraux, A, Hogrel, J-Y, Seferian, A M, Zehrouni, K, Lo Moing, A-G, Gidaro, T, Vanhulle, C, Laugel, V, Butoianu, N, Cuisset, J-M, Sabouraud, P, Cances, C, Klein, A, Leturcq, F, Moullier, P, and Voit, T

Abstract

Background: Exon skipping therapy is an emerging approach in Duchenne Muscular Dystrophy (DMD). Antisense oligonucleotides that induce skipping of exon 51, 44, 45, or 53 are currently being evaluated in clinical trials. These trials were designed on the basis of data available in general DMD population. Objectives: Our objective was to compare the clinical and functional statuses of non-ambulant DMD patients theoretically treatable by exon 53 skipping and of DMD patients with other mutations. Methods: We first compared fifteen non-ambulant DMD patients carrying deletions theoretically treatable by exon 53 skipping (DMD-53) with fifteen closely age-matched DMD patients with mutations not treatable by exon 53 skipping (DMD-all-non-53) then with fifteen DMD patients carrying deletions not treatable by exon 53 skipping (DMD-del-non-53). Results: We found that DMD-53 patients had a lower left ventricular ejection fraction, more contractures and they tend to have weaker grips and pinch strengths than other DMD patients. DMD-53 patients lost ambulation significantly younger than other DMD patients. This result was confirmed by comparing ages at loss of ambulation in all non-ambulant DMD patients of the DMD cohort identified in a molecular diagnostic lab. Conclusions: These prospective and retrospective data demonstrate that DMD-53 patients have clinically more severe phenotypes than other DMD patients.

Published
2015

49. A European prospective study of the natural history of patients with type 2 and 3 spinal muscular atrophy

Author

Annoussamy, M., primary, Chabanon, A., additional, Phelep, A., additional, Hogrel, J.Y., additional, Carlier, P., additional, Fournier, E., additional, Hermosilla, R., additional, Ramey, G., additional, Czech, C., additional, Lowes, L., additional, Péréon, Y., additional, Cances, C., additional, Cuisset, J., additional, Laugel, V., additional, Vuillerot, C., additional, Daron, A., additional, Goemans, N., additional, Schara, U., additional, Voit, T., additional, and Servais, L., additional

Published
2015
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