-
1دورية أكاديمية
المؤلفون: Danti, Federica Rachele, Pagliano, Emanuela, Pareyson, Davide, Foscan, Maria, Marchi, Alessia, Feoli, Alessia, Bruschi, Fabio, Piscosquito, Giuseppe, Shy, Micheal E., Ramchandren, Sindhu, Moroni, Isabella, Wu, Tong Tong
المساهمون: Ministero della Salute
المصدر: Journal of the Peripheral Nervous System ; volume 29, issue 1, page 107-110 ; ISSN 1085-9489 1529-8027
-
2دورية أكاديمية
المؤلفون: Antozzi, Carlo, Guptill, Jeffrey, Bril, Vera, Gamez, Josep, Meuth, Sven G., Nowak, Richard J., Quan, Dianna, Sevilla, Teresa, Jouvin, Marie-Helene, Jin, Jim, Karcher, Keith, Ramchandren, Sindhu, Sun, Hong, Ling, Leona, Zhu, Yaowei, Arroyo, Santiago
المصدر: Neurology ; volume 102, issue 2 ; ISSN 0028-3878 1526-632X
-
3دورية أكاديميةValidation of the parent-proxy pediatric Charcot-Marie-Tooth disease quality of life outcome measure
المؤلفون: Wu, Tong Tong, Finkel, Richard S, Siskind, Carly E, Feely, Shawna ME, Burns, Joshua, Reilly, Mary M, Muntoni, Francesco, Estilow, Timothy, Shy, Michael E, Ramchandren, Sindhu, Childhood CMT Study Group, of the Inherited Neuropathy Consortium
المصدر: Journal of the Peripheral Nervous System , 28 (2) pp. 237-251. (2023)
مصطلحات موضوعية: Charcot-Marie-Tooth disease (CMT), Clinical Trial Endpoint, Outcome Measure Validation, Pediatric, Quality of life (QOL)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10164675/1/Validation%20of%20the%20Parent%20Proxy%20Pediatric%20Charcot%20Marie%20Tooth%20Disease%20Quality%20of%20Life.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10164675Test/
-
4دورية 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/
-
5دورية أكاديمية
المؤلفون: Wu, Tong Tong, Finkel, Richard S, Siskind, Carly E, Feely, Shawna ME, Burns, Joshua, Reilly, Mary M, Muntoni, Francesco, Milev, Evelin, Estilow, OT Timothy, Shy, Michael E, Ramchandren, Sindhu, Childhood CMT Study Group of the Inherited Neuropathy, Consortium
المصدر: Journal of the Peripheral Nervous System (2023) (In press).
مصطلحات موضوعية: Childhood CMT Study Group of the Inherited Neuropathy Consortium
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10170203/1/Validation%20of%20the%20Parent%20Proxy%20Version%20of%20the%20Pediatric%20Charcot%20Marie%20Tooth%20Disease.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10170203Test/
-
6دورية 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/
-
7دورية أكاديمية
المؤلفون: Seth, Nilufer, Xu, Rui, Tyler, Steven, Avery, William, Beavers, Traymon, Prage, Viraj, Sihapong, Sam, Brown, Julia, Bhattacharya, Sayak, Ramchandren, Sindhu, Heerlein, Kristin, Sun, Hong, Abouzahr, Katie, Ling, Leona
المصدر: Neurology ; volume 102, issue 17_supplement_1 ; ISSN 0028-3878 1526-632X
-
8دورية أكاديمية
المؤلفون: Gwathmey, Kelly, Rodriguez, Rachelle, Choudhry, Zia, Jackson, Louis, Peters, Wesley, Geonnotti, Gabrielle, Ramchandren, Sindhu, Ait-Tihyaty, Maria, Goyal, Neelam
المصدر: Neurology ; volume 102, issue 17_supplement_1 ; ISSN 0028-3878 1526-632X
-
9دورية أكاديمية
المؤلفون: Yiu, Eppie M., Bray, Paula, Baets, Jonathan, Baker, Steven K., Barisic, Nina, de Valle, Katy, Estilow, Timothy, Farrar, Michelle A., Finkel, Richard S., Haberlová, Jana, Kennedy, Rachel A., Moroni, Isabella, Nicholson, Garth A., Ramchandren, Sindhu, Reilly, Mary M., Rose, Kristy, Shy, Michael E., Siskind, Carly E., Yum, Sabrina W., Menezes, Manoj P., Ryan, Monique M., Burns, Joshua
المصدر: 0022-3050 ; Journal of neurology, neurosurgery and psychiatry
مصطلحات موضوعية: Chemistry, Biology, Human medicine
العلاقة: info:eu-repo/semantics/altIdentifier/isi/000753979600001
-
10دورية أكاديمية
المؤلفون: Moroni, Isabella, Danti, Federica Rachele, Pareyson, Davide, Pagliano, Emanuela, Piscosquito, Giuseppe, Foscan, Maria, Marchi, Alessia, Ardissone, Anna, Genitrini, Silvia, Wu, Tong Tong, Shy, Michael E, Ramchandren, Sindhu
المصدر: Journal of the Peripheral Nervous System ; volume 27, issue 2, page 127-130 ; ISSN 1085-9489 1529-8027