Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Ramchandren, Sindhu"'
Autor:
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)
Publikováno v:
Brain
Pipis et al. describe the characteristics and longitudinal follow-up of 225 patients with Charcot-Marie-Tooth disease type 2A, caused by mutations in MFN2. They describe how different mutations affect disease onset and rate of progression and identif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf91260bc45bb4c10d775b4f4198147b
To develop and validate a reliable patient-reported scale that grades the severity of disability in Charcot-Marie-tooth disease (CMT), from an in-depth analysis of patient and healthcare provider perspectives on what mobility changes constitutes mild
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::96f4545655ee865f745d311962d8756e
https://europepmc.org/articles/PMC4920058/
https://europepmc.org/articles/PMC4920058/
Autor:
Komyathy, Kelsey, Neal, Stephanie, Feely, Shawna, Miller, Lindsey J, Lewis, Richard A, Trigge, George, Siskind, Carly E, Shy, Michael E, Ramchandren, Sindhu
CMT1A is the most common form of Charcot-Marie-Tooth disease (CMT), a slowly progressive neuropathy in which impairment is length dependent. Fibular nerve conduction studies to the anterior tibialis muscle (AT) may serve as a physiological marker of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9edba7d8a56b0f66cca14e3c66b9a726
https://europepmc.org/articles/PMC3608739/
https://europepmc.org/articles/PMC3608739/