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1دورية أكاديمية
المؤلفون: Thomas, Florian P, Brannagan, Thomas H, Butterfield, Russell J, Desai, Urvi, Habib, Ali A, Herrmann, David N, Eichinger, Katy J, Johnson, Nicholas E, Karam, Chafic, Pestronk, Alan, Quinn, Colin, Shy, Michael E, Statland, Jeffrey M, Subramony, Sub H, Walk, David, Stevens-Favorite, Katherine, Miller, Barry, Leneus, Ashley, Fowler, Marcie, van de Rijn, Marc, Attie, Kenneth M
المصدر: Neurology. 98(23)
مصطلحات موضوعية: Rare Diseases, Clinical Trials and Supportive Activities, Charcot-Marie-Tooth Disease, Neurosciences, Clinical Research, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/33g3d6jqTest
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2دورية أكاديمية
المؤلفون: O'Donnell, Luke F, Pipis, Menelaos, Thornton, John S, Kanber, Baris, Wastling, Stephen, McDowell, Amy, Zafeiropoulos, Nick, Laura, Matilde, Skorupinska, Mariola, Record, Christopher J, Doherty, Carolynne M, Herrmann, David N, Zetterberg, Henrik, Heslegrave, Amanda J, Laban, Rhiannon, Rossor, Alexander M, Morrow, Jasper M, Reilly, Mary M
المصدر: Journal of Neurology, Neurosurgery and Psychiatry (2023)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10184323/2/Zetterberg_ODonnell.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10184323Test/
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3دورية أكاديمية
المؤلفون: Record, Christopher J, Skorupinska, Mariola, Laura, Matilde, Rossor, Alexander M, Pareyson, Davide, Pisciotta, Chiara, Feely, Shawna ME, 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, Inherited Neuropathies Consortium - Rare Disease Clinical Resear
المصدر: Brain , Article awad187. (2023) (In press).
مصطلحات موضوعية: ACGS, ACMG, CMT1X, Cx32, connexin 32
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10173298/1/awad187.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10173298Test/
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4دورية أكاديمية
المؤلفون: Fridman, Vera, Sillau, Stefan, Bockhorst, Jacob, Smith, Kaitlin, Moroni, Isabella, Pagliano, Emanuela, Pisciotta, Chiara, Piscosquito, Guiseppe, Laurá, Matilde, Muntoni, Francesco, Bacon, Chelsea, Feely, Shawna, Grider, Tiffany, Gutmann, Laurie, Shy, Rosemary, Wilcox, Janel, Herrmann, David N, Li, Jun, Ramchandren, Sindhu, Sumner, Charlotte J, Lloyd, Thomas E, Day, John, Siskind, Carly E, Yum, Sabrina W, Sadjadi, Reza, Finkel, Richard S, Scherer, Steven S, Pareyson, Davide, Reilly, Mary M, Shy, Michael E, Inherited Neuropathies Consortium-Rare Diseases Clinical Researc
المصدر: Annals of Neurology , 93 (3) pp. 563-576. (2023)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10157293/1/Disease%20Progression%20in%20CMT%20related%20to%20MPZ%20Mutations.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10157293Test/
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5دورية أكاديمية
المؤلفون: Reilly, Mary M., Herrmann, David N., Pareyson, Davide, Scherer, Steven S., Finkel, Richard S., Züchner, Stephan, Burns, Joshua, Shy, Michael E.
المساهمون: Muscular Dystrophy Association, National Institute of Neurological Disorders and Stroke
المصدر: Annals of Neurology ; volume 93, issue 5, page 906-910 ; ISSN 0364-5134 1531-8249
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6دورية أكاديمية
المؤلفون: Michelson, David, Chin, William W., Dworkin, Robert H., Freeman, Roy, Herrmann, David N., Mazitschek, Ralph, Pop-Busui, Rodica, Shaibani, Aziz, Vornov, James, Jones, Melissa, Jarpe, Matthew, Hader, Brittany, Viera, Theresa, Hylan, Michelle, Kachmar, Tim, Jones, Simon
المساهمون: Regenacy Pharmaceuticals
المصدر: PAIN Reports ; volume 8, issue 6, page e1114 ; ISSN 2471-2531
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7دورية أكاديمية
المؤلفون: Curry, Patrick1 (AUTHOR) patrick_curry@urmc.rochester.edu, Herrmann, David N.1 (AUTHOR), Stanton, Michael1 (AUTHOR), Mongiovi, Phillip1 (AUTHOR), Akmyradov, Chary2 (AUTHOR), Logigian, Eric1 (AUTHOR)
المصدر: Muscle & Nerve. Jul2024, p1. 7p. 3 Charts.
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8دورية أكاديمية
المؤلفون: O'Donnell, Luke F., Pipis, Menelaos, Thornton, John S., Kanber, Baris, Wastling, Stephen, McDowell, Amy, Zafeiropoulos, Nick, Laura, Matilde, Skorupinska, Mariola, Record, Christopher J., Doherty, Carolynne M., Herrmann, David N., Zetterberg, Henrik, Heslegrave, Amanda J., Laban, Rhiannon, Rossor, Alexander M., Morrow, Jasper M., Reilly, Mary M.
المصدر: Journal of Neurology, Neurosurgery & Psychiatry; Jun2024, Vol. 95 Issue 6, p500-503, 4p
مصطلحات موضوعية: ARTIFICIAL neural networks, MAGNETIC resonance imaging, CONVOLUTIONAL neural networks
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9دورية أكاديمية
المؤلفون: Xu, Isaac R. L., Danzi, Matt C., Ruiz, Ariel, Raposo, Jacquelyn, De Jesus, Yeisha Arcia, Reilly, Mary M., Cortese, Andrea, Shy, Michael E., Scherer, Steven S., Herrmann, David N., Fridman, Vera, Baets, Jonathan, Saporta, Mario, Seyedsadjadi, Reza, Stojkovic, Tanya, Claeys, Kristl G., Patel, Pooja, Feely, Shawna, Rebelo, Adriana P., Dohrn, Maike F.
المصدر: Journal of the Peripheral Nervous System; Jun2024, Vol. 29 Issue 2, p202-212, 11p
مصطلحات موضوعية: DORSIFLEXION, EFFECT sizes (Statistics), RESEARCH funding, SEVERITY of illness index, GENETIC variation, NUCLEOTIDES, CHARCOT-Marie-Tooth disease, GENOMES, DISEASE progression, GENETICS, SEQUENCE analysis, PHENOTYPES
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10دورية أكاديمية
المؤلفون: Kosmanopoulos, Gage, Donohue, Jack K, Hoke, Maya, Thomas, Simone, Peyton, Margo A, Vo, Linh, Crawford, Thomas O, Sadjadi, Reza, Herrmann, David N, Yum, Sabrina W, Reilly, Mary M, Scherer, Steven S, Finkel, Richard S, Lewis, Richard A, Pareyson, Davide, Pisciotta, Chiara, Walk, David, Shy, Michael E, Sumner, Charlotte J, McCray, Brett A
المصدر: Brain ; ISSN:1460-2156
مصطلحات موضوعية: CMT2C, Charcot-Marie Tooth disease, TRPV4, hereditary neuropathy, spinal muscular atrophy
