Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Nathan Thibault"'
Autor:
Mark Roberts, Jordi Diaz-Manera, Antonio Toscano, Sabrina Sacconi, Mazen M Dimachkie, Nicole Armstrong, Robert Henderson, Benedikt Schoser, Priya S Kishnani, Olivier Huynh-Ba, Nathan Thibault, Young Chul Choi, Shugo Suwazono, Paulo Victor Sgobbi de Souza, Magali Periquet
Publikováno v:
BMJ Neurology Open, Vol 6, Iss Suppl 1 (2024)
Externí odkaz:
https://doaj.org/article/2e003ce4137a4384adc92d7fe85d02dc
Autor:
Matthias Boentert, Kenneth I. Berger, Jordi Díaz-Manera, Mazen M. Dimachkie, Alaa Hamed, Lionel Riou França, Nathan Thibault, Pragya Shukla, Jack Ishak, J. Jaime Caro
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)
Abstract Background Clinical trials for rare diseases often include multiple endpoints that capture the effects of treatment on different disease domains. In many rare diseases, the primary endpoint is not standardized across trials. The win ratio ap
Externí odkaz:
https://doaj.org/article/e7b737f3c80f41c2a3616eefc9531926
Autor:
Jorge A. Bevilacqua, Maria del Rosario Guecaimburu Ehuletche, Abayuba Perna, Alberto Dubrovsky, Marcondes C. Franca, Steven Vargas, Madhuri Hegde, Kristl G. Claeys, Volker Straub, Nadia Daba, Roberta Faria, Magali Periquet, Susan Sparks, Nathan Thibault, Roberto Araujo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Limb-girdle muscular dystrophy (LGMD) is a group of neuromuscular disorders of heterogeneous genetic etiology with more than 30 directly related genes. LGMD is characterized by progressive muscle weakness involving the shoulder an
Externí odkaz:
https://doaj.org/article/7238d780e8914ec39d31737fd18f471e
Autor:
Lucie Vu, Gerald F. Cox, Jennifer Ibrahim, M. Judith Peterschmitt, Leorah Ross, Nathan Thibault, Sandrine Turpault
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)
Eliglustat is an oral glucosylceramide synthase inhibitor indicated for the long-term treatment of adults with Gaucher disease type 1 and CYP2D6 extensive, intermediate, or poor metabolizer phenotypes. Eliglustat is metabolized primarily by CYP2D6 an
Externí odkaz:
https://doaj.org/article/e04053df537741a0847fb03918901230
Autor:
Ana Maria Martins, Kristin Lindstrom, Sandra Obikawa Kyosen, Maria Veronica Munoz-Rojas, Nathan Thibault, Lynda E. Polgreen
Publikováno v:
BMC Endocrine Disorders, Vol 18, Iss 1, Pp 1-7 (2018)
Abstract Background Mucopolysaccharidosis type I (MPS I) results in significant disease burden and early treatment is important for optimal outcomes. Recognition of short stature and growth failure as symptoms of MPS I among pediatric endocrinologist
Externí odkaz:
https://doaj.org/article/5e5e3a81bd744956854a3849775f2a7e
Autor:
Nathan Thibault, Sonia S. Maruti, Karien Verhulst, Roberto Araujo, Matthias Boentert, David W. Stockton, Juan C. Llerena, Ans T. van der Ploeg, Priya S. Kishnani, Barry J. Byrne, Mark Roberts, Kenneth I. Berger
Publikováno v:
Journal of Neurology, 267(10), 3038-3053. D. Steinkopff-Verlag
Journal of Neurology
Journal of Neurology
Objective To examine respiratory muscle function among late-onset Pompe disease (LOPD) patients in the Pompe Registry (NCT00231400/Sanofi Genzyme) during enzyme replacement therapy (ERT) with alglucosidase alfa by assessing the longitudinal course of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7129c65af5acf6525e67244183ba9e9
https://doi.org/10.1007/s00415-020-09936-8
https://doi.org/10.1007/s00415-020-09936-8
Autor:
Marcondes C. França, Abayuba Perna, Nathan Thibault, Madhuri Hegde, Jorge A. Bevilacqua, Roberto Araujo, Kristl G. Claeys, Alberto Dubrovsky, Nadia Daba, Maria del Rosario Guecaimburu Ehuletche, Magali Periquet, Volker Straub, Steven Vargas, Susan Sparks, Roberta Faria
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Limb-girdle muscular dystrophy (LGMD) is a group of neuromuscular disorders of heterogeneous genetic etiology with more than 30 directly related genes. LGMD is characterized by progressive muscle weakness involving the shoulder and pelvic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64d4c75da510790e75daea668d33e21e
https://doaj.org/article/7238d780e8914ec39d31737fd18f471e
https://doaj.org/article/7238d780e8914ec39d31737fd18f471e
Autor:
Jordi Diaz-Manera, Mazen M. Dimachkie, Jack Ishak, Jaime Caro, Alaa Hamed, Lionel Riou França, Nathan Thibault, Pragya Shukla, Kenneth I. Berger, Matthias Boentert
Publikováno v:
Molecular Genetics and Metabolism. 138:107076
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e8e9d9fda1383ad50aa54c4cf14101f9
https://doi.org/10.1016/j.ymgme.2022.107076
https://doi.org/10.1016/j.ymgme.2022.107076
Autor:
Priya S. Kishnani, Jordi Díaz-Manera, Hani Kushlaf, Shafeeq Ladha, Tahseen Mozaffar, Volker Straub, Antonio Toscano, Ans T. van der Ploeg, Paula R. Clemens, John W. Day, Sergey Illarioshkin, Mark E. Roberts, Shahram Attarian, Gerson Carvalho, Sevim Erdem-Özdamar, Ozlem Goker-Alpan, Anna Kostera-Pruszczyk, Kristina An Haack, Olivier Huynh-Ba, Swathi Tammireddy, Nathan Thibault, Tianyue Zhou, Mazen M. Dimachkie, Benedikt Schoser
Publikováno v:
Molecular Genetics and Metabolism. 138:107185
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fd5a5f4858cc8cbc9651e597cf8db827
https://doi.org/10.1016/j.ymgme.2022.107185
https://doi.org/10.1016/j.ymgme.2022.107185
Autor:
Jordi Diaz-Manera, Mazen M. Dimachkie, Emmanuelle Salort-Campana, Shahram Attarian, Kenneth I. Berger, Magali Periquet, Patrick Miossec, Nathan Thibault, Tianyue Zhou, Matthias Boentert
Publikováno v:
Molecular Genetics and Metabolism. 138:107077
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::689dd96ed6ccbc6883b2d0e03000abf9
https://doi.org/10.1016/j.ymgme.2022.107077
https://doi.org/10.1016/j.ymgme.2022.107077