المؤلفون: Katy Eichinger, Janet E. Sowden, Joshua Burns, Michael P. McDermott, Jeffrey Krischer, John Thornton, Davide Pareyson, Steven S. Scherer, Michael E. Shy, Mary M. Reilly, David N. Herrmann

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: Charcot-Marie-Tooth disease (CMT), clinical trials, protocol, clinical outcome assessments, biomarkers, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2022.930435/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/d46dcb0d9ea4402aa80c7dfef06a61b5Test

المؤلفون: Leo H. Wang, Dennis W. W. Shaw, Anna Faino, Christopher B. Budech, Leann M. Lewis, Jeffrey Statland, Katy Eichinger, Stephen J. Tapscott, Rabi N. Tawil, Seth D. Friedman

المصدر: BMC Musculoskeletal Disorders, Vol 22, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: MRI, All neuromuscular disease, Muscle disease, Facioscapulohumeral muscular dystrophy (FSHD), Outcome measures, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2474Test

الوصول الحر: https://doaj.org/article/d70451aa6ae64c5697fa216d037e6492Test

المؤلفون: Tina Duong, Kristin J. Krosschell, Meredith K. James, Leslie Nelson, Lindsay N. Alfano, Katy Eichinger, Elena Mazzone, Kristy Rose, Linda P. Lowes, Anna Mayhew, Julaine Florence, Wendy King, Claudia R. Senesac, Michelle Eagle

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: clinical outcomes assessment, clinical evaluation education, neuromuscular disease (NMD), evaluator training, clinical trial readiness, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.735936/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/981e516b28d04a8384a87ee77f7b25aaTest

المؤلفون: Peter D. Creigh, Joan Mountain, Janet E. Sowden, Katy Eichinger, Bernard Ravina, Jane Larkindale, David N. Herrmann

المصدر: Annals of Clinical and Translational Neurology, Vol 6, Iss 9, Pp 1718-1727 (2019)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2328-9503Test

الوصول الحر: https://doaj.org/article/e71d50a2d5d741cb94b1bd41b5c88f06Test

المؤلفون: Samantha LoRusso, Nicholas E. Johnson, Michael P. McDermott, Katy Eichinger, Russell J. Butterfield, Elena Carraro, Kiley Higgs, Leann Lewis, Karlien Mul, Sabrina Sacconi, Valeria A. Sansone, Perry Shieh, Baziel van Engelen, Kathryn Wagner, Leo Wang, Jeffrey M. Statland, Rabi Tawil, on behalf of the ReSolve Investigators and the FSHD CTRN

المصدر: BMC Neurology, Vol 19, Iss 1, Pp 1-13 (2019)

مصطلحات موضوعية: Facioscapulohumeral muscular dystrophy, Muscular dystrophy, Outcome measures, Clinical trial, Functional testing, Electrical impedance Myography, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12883-019-1452-xTest; https://doaj.org/toc/1471-2377Test

الوصول الحر: https://doaj.org/article/9f896a44cef44c188a88370316d2d5e1Test

المؤلفون: Kristin M Conway, Katy Eichinger, Christina Trout, Paul A Romitti, Katherine D Mathews, Shree K Pandya

المصدر: SAGE Open Medicine, Vol 7 (2019)

مصطلحات موضوعية: Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2050-3121Test

الوصول الحر: https://doaj.org/article/b0a981e0ed034b70b7ff3f82e9adfcb3Test

المؤلفون: Stacey D Wagner, Adam J Struck, Riti Gupta, Dylan R Farnsworth, Amy E Mahady, Katy Eichinger, Charles A Thornton, Eric T Wang, J Andrew Berglund

المصدر: PLoS Genetics, Vol 12, Iss 9, p e1006316 (2016)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC5082313?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test

الوصول الحر: https://doaj.org/article/d3bfae6475fd448abdb8786c9d3ce752Test

المؤلفون: Record, Christopher J, Skorupinska, Mariola, Laura, Matilde, Rossor, Alexander M, Pareyson, Davide, Pisciotta, Chiara, Feely, Shawna M E, Lloyd, Thomas E, Horvath, Rita, Sadjadi, Reza, Herrmann, David N, Li, Jun, Walk, David, Yum, Sabrina W, Lewis, Richard A, Day, John, Burns, Joshua, Finkel, Richard S, Saporta, Mario A, Ramchandren, Sindhu, Weiss, Michael D, Acsadi, Gyula, Fridman, Vera, Muntoni, Francesco, Poh, Roy, Polke, James M, Zuchner, Stephan, Shy, Michael E, Scherer, Steven S, Reilly, Mary M, Abreu, Lisa, Anderson, Kimberly A, Baratta, Silvia, Berry, Debbie, Blake, Julian, Cavalca, Eleonora, Cornett, Kayla, Cortese, Andrea, Donlevy, Gabrielle, Dragon, Amanda, Dudziec, Magdalena, Estilow, Katy Eichinger Tim, Ferment, Valerie, Grant, Natalie, Grider, Tiffany, Hyslop, Emily, Jones, Tara, Kressin, Nicole, Leon, Wendy, Magri, Stefania

المساهمون: The Inherited Neuropathies Consortium, Rare Disease Clinical Research Network, International Centre for Genomic Medicine in Neuromuscular Diseases, Medical Research Council, National Institutes of Neurological Diseases and Stroke and office of Rare Diseases, Muscular Dystrophy Association, Charcot Marie Tooth Association, National Institute for Health Research University College London Hospitals Biomedical Research Centre, Judy Seltzer Levenson Memorial Fund, CMT Research, Australian Government, American Orthotic and Prosthetic Association, Italian Ministry of Health, Leonard E. Walk Neuropathy Research and Education fund, University of Minnesota Foundation

المصدر: Brain ; volume 146, issue 10, page 4336-4349 ; ISSN 0006-8950 1460-2156

الإتاحة: https://doi.org/10.1093/brain/awad187Test
https://academic.oup.com/brain/article-pdf/146/10/4336/51824208/awad187.pdfTest

المؤلفون: Charles A Thornton, Richard Thomas Moxley, Katy Eichinger, Chad Heatwole, Laurence Mignon, W David Arnold, Tetsuo Ashizawa, John W Day, Gersham Dent, Matthew K Tanner, Tina Duong, Ericka P Greene, Laura Herbelin, Nicholas E Johnson, Wendy King, John T Kissel, Doris G Leung, Donovan J Lott, Daniel A Norris, Evan M Pucillo, Wendy Schell, Jeffrey M Statland, Nikia Stinson, Sub H Subramony, Shuting Xia, Kathie M Bishop, C Frank Bennett

المصدر: The Lancet Neurology. 22:218-228

مصطلحات موضوعية: Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::06edbb966b88ee3a85a273542b721585Test
https://doi.org/10.1016/s1474-4422Test(23)00001-7

المؤلفون: Leo H. Wang (10287238), Dennis W. W. Shaw (10287241), Anna Faino (10287244), Christopher B. Budech (5353832), Leann M. Lewis (10287247), Jeffrey Statland (4831611), Katy Eichinger (3183093), Stephen J. Tapscott (10287250), Rabi N. Tawil (10287253), Seth D. Friedman (10287256)

مصطلحات موضوعية: Medicine, Cell Biology, Genetics, Neuroscience, Physiology, Computational Biology, Space Science, MRI, All neuromuscular disease, Muscle disease, Facioscapulohumeral muscular dystrophy (FSHD), Outcome measures

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_4_of_Longitudinal_study_of_MRI_and_functional_outcome_measures_in_facioscapulohumeral_muscular_dystrophy/14196868Test

الإتاحة: https://doi.org/10.6084/m9.figshare.14196868.v1Test