المؤلفون: Doherty, Carolynne M, Howard, Paige, O'Donnell, Luke F, Zuccarino, Riccardo, Wastling, Stephen, Milev, Evelin, Banks, Tina, Shah, Sachit, Zafeiropoulos, Nick, Stephens, Katherine J, Sarkozy, Anna, Grider, Tiffany, Feely, Shawna ME, Manzur, Adnan, Shy, Rosemary R, Skorupinska, Mariola, Pipis, Menelaos, Nicolaisen, Emma, McDowell, Amy, Dilek, Nuran, Rossor, Alexander M, Laura, Matilde, Clark, Christopher, Muntoni, Francesco, Thedens, Daniel, Thornton, John, Morrow, Jasper M, Shy, Michael E, Reilly, Mary M

المصدر: Annals of Neurology (2024) (In press).

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10191158/1/Quantitative%20Foot%20Muscle%20Magnetic%20Resonance%20Imaging%20Reliably%20Measures%20Disease.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10191158Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10191158/1/Quantitative%20Foot%20Muscle%20Magnetic%20Resonance%20Imaging%20Reliably%20Measures%20Disease.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10191158Test/

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/

الإتاحة: 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/

المؤلفون: Lischka, Annette, Eggermann, Katja, Record, Christopher J, Dohrn, Maike F, Laššuthová, Petra, Kraft, Florian, Begemann, Matthias, Dey, Daniela, Eggermann, Thomas, Beijer, Danique, Šoukalová, Jana, Laura, Matilde, Rossor, Alexander M, Mazanec, Radim, Van Lent, Jonas, Tomaselli, Pedro J, Ungelenk, Martin, Debus, Karlien Y, Feely, Shawna ME, Gläser, Dieter, Jagadeesh, Sujatha, Martin, Madelena, Govindaraj, Geeta M, Singhi, Pratibha, Baineni, Revanth, Biswal, Niranjan, Ibarra-Ramírez, Marisol, Bonduelle, Maryse, Gess, Burkhard, Sánchez, Juan Romero, Suthar, Renu, Udani, Vrajesh, Nalini, Atchayaram, Unnikrishnan, Gopikrishnan, Junior, Wilson Marques, Mercier, Sandra, Procaccio, Vincent, Bris, Céline, Suresh, Beena, Reddy, Vaishnavi, Skorupinska, Mariola, Bonello-Palot, Nathalie, Mochel, Fanny, Dahl, Georg, Sasidharan, Karthika, Devassikutty, Fiji M, Nampoothiri, Sheela, Doriqui, Maria J Rodovalho, Müller-Felber, Wolfgang, Vill, Katharina, Haack, Tobias B, Dufke, Andreas, Abele, Michael, Stucka, Rolf, Siddiqi, Saima, Ullah, Noor, Spranger, Stephanie, Chiabrando, Deborah, Bolgül, Behiye S, Parman, Yesim, Seeman, Pavel, Lampert, Angelika, Schulz, Jörg B, Wood, John N, Cox, James J, Auer-Grumbach, Michaela, Timmerman, Vincent, de Winter, Jonathan, Themistocleous, Andreas C, Shy, Michael, Bennett, David L, Baets, Jonathan, Hübner, Christian A, Leipold, Enrico, Züchner, Stephan, Elbracht, Miriam, Çakar, Arman, Senderek, Jan, Hornemann, Thorsten, Woods, C Geoffrey, Reilly, Mary M, Kurth, Ingo

المصدر: Brain , Article awad328. (2023) (In press).

مصطلحات موضوعية: Neuropathies, CIP, HSAN, HSN, pain, genetics

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10181008/1/awad328.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10181008Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10181008/1/awad328.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10181008Test/

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/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10173298/1/awad187.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10173298Test/

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/

الإتاحة: 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/

المؤلفون: Ajjarapu, Aparna, Feely, Shawna ME., Shy, Michael E., Trout, Christina, Zuchner, Stephan, Moore, Steven A., Mathews, Katherine D.

المصدر: Case Reports in Neurology ; volume 15, issue 1, page 146-152 ; ISSN 1662-680X

الإتاحة: https://doi.org/10.1159/000530974Test
https://karger.com/crn/article-pdf/15/1/146/4125288/000530974.pdfTest

المؤلفون: Pipis, Menelaos, Feely, Shawna ME, Polke, James M, Skorupinska, Mariola, Perez, Laura, Shy, Rosemary R, Laura, Matilde, Morrow, Jasper M, Moroni, Isabella, Pisciotta, Chiara, Taroni, Franco, Vujovic, Dragan, Lloyd, Thomas E, Acsadi, Gyula, Yum, Sabrina W, Lewis, Richard A, Finkel, Richard S, Herrmann, David N, Day, John W, Li, Jun, Saporta, Mario, Sadjadi, Reza, Walk, David, Burns, Joshua, Muntoni, Francesco, Ramchandren, Sindhu, Horvath, Rita, Johnson, Nicholas E, Züchner, Stephan, Pareyson, Davide, Scherer, Steven S, Rossor, Alexander M, Shy, Michael E, Reilly, Mary M, Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)

مصطلحات موضوعية: Charcot-Marie-Tooth Examination Score v2.0, Charcot-Marie-Tooth disease type 2A, genotype-phenotype correlations, mitofusin-2, standardized response mean, Adolescent, Adult, Age of Onset, Charcot-Marie-Tooth Disease, Child, Preschool, Cohort Studies, Disease Progression, Female, GTP Phosphohydrolases, Genes, Dominant, Recessive, Genetic Association Studies, Genetic Markers, Humans, Infant, Longitudinal Studies, Male, Mitochondrial Proteins, Neurologic Examination, Orthotic Devices, Prognosis, Prospective Studies, Wheelchairs

وصف الملف: Print; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/311582Test

الإتاحة: https://doi.org/10.17863/CAM.58674Test
https://www.repository.cam.ac.uk/handle/1810/311582Test

المؤلفون: Shy, Michael, Rebelo, Adriana P, Feely, Shawna ME, Abreu, Lisa A, Tao, Feifei, Swenson, Andrea, Bacon, Chelsea, Zuchner, Stephan

المساهمون: Muscular Dystrophy Association, Charcot Marie Tooth Association, National Center for Advancing Translational Sciences, National Institute of Neurological Disorders and Stroke

المصدر: Journal of Neurology, Neurosurgery & Psychiatry ; volume 89, issue 3, page 313-315 ; ISSN 0022-3050 1468-330X

الإتاحة: https://doi.org/10.1136/jnnp-2017-315929Test

المؤلفون: Shy, Michael, Rebelo, Adriana P., Feely, Shawna M. E., Abreu, Lisa A., Tao, Feifei, Swenson, Andrea, Bacon, Chelsea, Zuchner, Stephan, Feely, Shawna Me

المصدر: Journal of Neurology, Neurosurgery & Psychiatry; Mar2018, Vol. 89 Issue 3, p313-316, 4p, 1 Diagram, 2 Charts

مصطلحات موضوعية: GENETIC mutation, CHARCOT-Marie-Tooth disease, PERIPHERAL neuropathy, EXOMES, NUCLEOTIDE sequence