Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln)

由 Jerath, Nivedita U., Grider, Tiffany, Shy, Michael E.
發表在 Case Rep Genet (2015)

Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion

由 Jerath, Nivedita U., Kamholz, John, Grider, Tiffany, Harper, Amy, Swenson, Andrea, Shy, Michael E.
發表在 Muscle Nerve (2015)

PMP22 exon 4 deletion causes ER retention of PMP22 and a gain‐of‐function allele in CMT1E

由 Wang, David S., Wu, Xingyao, Bai, Yunhong, Zaidman, Craig, Grider, Tiffany, Kamholz, John, Lupski, James R., Connolly, Anne M., Shy, Michael E.
發表在 Ann Clin Transl Neurol (2017)

Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E

由 Pisciotta, Chiara, Bai, Yunhong, Brennan, Kathryn M., Wu, Xingyao, Grider, Tiffany, Feely, Shawna, Wang, Suola, Moore, Steven, Siskind, Carly, Gonzalez, Michael, Zuchner, Stephan, Shy, Michael E.
發表在 Neurology (2015)

Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation

由 Jerath, Nivedita U., Crockett, Cameron D., Moore, Steven A., Shy, Michael E., Weihl, Conrad C., Chou, Tsui-Fen, Grider, Tiffany, Gonzalez, Michael A., Zuchner, Stephan, Swenson, Andrea
發表在 Case Rep Genet (2015)

Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis

由 Sadjadi, Reza, Reilly, Mary M., Shy, Michael E., Pareyson, Davide, Laura, Matilde, Murphy, Sinead, Feely, Shawna M.E., Grider, Tiffany, Bacon, Chelsea, Piscosquito, Giuseppe, Calabrese, Daniela, Burns, Ted M.
發表在 J Peripher Nerv Syst (2014)

Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A

由 Morrow, Jasper M., Evans, Matthew R.B., Grider, Tiffany, Sinclair, Christopher D.J., Thedens, Daniel, Shah, Sachit, Yousry, Tarek A., Hanna, Michael G., Nopoulos, Peggy, Thornton, John S., Shy, Michael E., Reilly, Mary M.
發表在 Neurology (2018)

Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A

由 Wang, Hongge, Davison, Matthew, Wang, Kathryn, Xia, Tai‐He, Kramer, Martin, Call, Katherine, Luo, Jun, Wu, Xingyao, Zuccarino, Riccardo, Bacon, Chelsea, Bai, Yunhong, Moran, John J., Gutmann, Laurie, Feely, Shawna M. E., Grider, Tiffany, Rossor, Alexander M., Reilly, Mary M., Svaren, John, Shy, Michael E.
發表在 Ann Clin Transl Neurol (2019)

Genotype–phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene

由 Sanmaneechai, Oranee, Feely, Shawna, Scherer, Steven S., Herrmann, David N., Burns, Joshua, Muntoni, Francesco, Li, Jun, Siskind, Carly E., Day, John W., Laura, Matilde, Sumner, Charlotte J., Lloyd, Thomas E., Ramchandren, Sindhu, Shy, Rosemary R., Grider, Tiffany, Bacon, Chelsea, Finkel, Richard S., Yum, Sabrina W., Moroni, Isabella, Piscosquito, Giuseppe, Pareyson, Davide, Reilly, Mary M., Shy, Michael E.
發表在 Brain (2015)

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

由 Fridman, Vera, Sillau, Stefan, Acsadi, Gyula, Bacon, Chelsea, Dooley, Kimberly, Burns, Joshua, Day, John, Feely, Shawna, Finkel, Richard S., Grider, Tiffany, Gutmann, Laurie, Herrmann, David N., Kirk, Callyn A., Knause, Sarrah A., Laurá, Matilde, Lewis, Richard A., Li, Jun, Lloyd, Thomas E., Moroni, Isabella, Muntoni, Francesco, Pagliano, Emanuela, Pisciotta, Chiara, Piscosquito, Giuseppe, Ramchandren, Sindhu, Saporta, Mario, Sadjadi, Reza, Shy, Rosemary R., Siskind, Carly E., Sumner, Charlotte J., Walk, David, Wilcox, Janel, Yum, Sabrina W., Züchner, Stephan, Scherer, Steven S., Pareyson, Davide, Reilly, Mary M., Shy, Michael E.
發表在 Neurology (2020)