Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Sabine De Chastonay"'
Autor:
Sabine De Chastonay, Carsten G. Bönnemann, Linda MacLaren, Benjamin T. Cocanougher, Jason D. Wittenbach, Minal Jain, Pomi Yun, Ruhi Vasavada, Lauren Flynn, A. Reghan Foley, Andrew E. Arai, M. Waite, A. Micheil Innes, Sandra Donkervoort, Sameer Chhibber, Tahseen Mozaffar
Publikováno v:
Neurology
Neurology, vol 93, iss 16
Neurology, vol 93, iss 16
ObjectiveTo better characterize adult myotubularin 1 (MTM1)–related myopathy carriers and recommend a phenotypic classification.MethodsThis cohort study was performed at the NIH Clinical Center. Participants were required to carry a confirmed MTM1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b10167b1f071fd4dce4ea6ea97a24734
https://doi.org/10.1212/wnl.0000000000008316
https://doi.org/10.1212/wnl.0000000000008316
Autor:
Lindsay C. Swanson, Tmirah Haselkorn, Suyash Prasad, Alan H. Beggs, Michele L. Yang, Emma James, Nancy L. Kuntz, Zi fan Yu, Sabine De Chastonay, Jennifer Simon, Barry J. Byrne, Imelda Hughes, Sabrina W. Yum
Publikováno v:
Musclenerve. 57(4)
Introduction X-linked myotubular myopathy (XLMTM), characterized by severe hypotonia, weakness, respiratory distress, and early mortality, is rare and natural history studies are few. Methods RECENSUS is a multicenter chart review of male XLMTM patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e860445ec3b681d5978c8efe9b98b560
https://pubmed.ncbi.nlm.nih.gov/29266294
https://pubmed.ncbi.nlm.nih.gov/29266294