Arama Sonuçları - Feely, Shawna

Neutral lipid-storage disease with myopathy and Jordan anomaly Yazar: Zuccarino, Riccardo, Anderson, Daniel M., Holman, Carol, Feely, Shawna, Gutmann, Laurie, Gutmann, Ludwig

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Detection of copy number variation by SNP-allelotyping Yazar: Parker, Brett, Alexander, Ryan, Wu, Xingyao, Feely, Shawna, Shy, Michael, Schnetz-Boutaud, Nathalie, Li, Jun

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Substance abuse may hasten motor onset of Huntington disease: Evaluating the Enroll-HD database Yazar: Schultz, Jordan L., Kamholz, John A., Moser, David J., Feely, Shawna M.E., Paulsen, Jane S., Nopoulos, Peg C.

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Charcot Marie Tooth (CMT) Subtypes and Genetic Testing Strategies Yazar: Saporta, Anita S.D., Sottile, Stephanie L., Miller, Lindsey J., Feely, Shawna M.E., Siskind, Carly E, Shy, Michael E.

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PMP22 expression in dermal nerve myelin from patients with CMT1A Yazar: Katona, Istvan, Wu, Xingyao, Feely, Shawna M. E., Sottile, Stephanie, Siskind, Carly E., Miller, Lindsey J., Shy, Michael E., Li, Jun

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Deficits in stepping response time are associated with impairments in balance and mobility in people with Huntington disease Yazar: Goldberg, Allon, Schepens, Stacey L., Feely, Shawna M. E., Garbern, James Y., Miller, Lindsey J., Siskind, Carly E., Conti, Gerry E

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Anterior Tibialis CMAP Amplitude Correlations with Impairment in CMT1A Yazar: Komyathy, Kelsey, Neal, Stephanie, Feely, Shawna, Miller, Lindsey J, Lewis, Richard A, Trigge, George, Siskind, Carly E, Shy, Michael E, Ramchandren, Sindhu

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Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E Yazar: 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.

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

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A novel mutation in VCP causes Charcot–Marie–Tooth Type 2 disease Yazar: Gonzalez, Michael A., Feely, Shawna M., Speziani, Fiorella, Strickland, Alleene V., Danzi, Matt, Bacon, Chelsea, Lee, Youjin, Chou, Tsui-Fen, Blanton, Susan H., Weihl, Conrad C., Zuchner, Stephan, Shy, Michael E.

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Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease Yazar: Brennan, Kathryn M., Bai, Yunhong, Pisciotta, Chiara, Wang, Suola, Feely, Shawna M.E., Hoegger, Mark, Gutmann, Laurie, Moore, Steven A., Gonzalez, Michael, Sherman, Diane L., Brophy, Peter J., Züchner, Stephan, Shy, Michael E.

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High-Dosage Ascorbic Acid Treatment in Charcot-Marie-Tooth Disease Type 1A: Results of a Randomized, Double-Masked, Controlled Trial Yazar: Lewis, Richard A., McDermott, Michael P., Herrmann, David N., Hoke, Ahmet, Clawson, Lora L., Siskind, Carly, Feely, Shawna M. E., Miller, Lindsey J., Barohn, Richard J., Smith, Patricia, Luebbe, Elizabeth, Wu, Xingyao, Shy, Michael E.

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Myelin Abnormality in CMT4J Recapitulates Features of Acquired Demyelination Yazar: Hu, Bo, Mccollum, Megan, Ravi, Vignesh, Arpag, Sezgi, Moiseev, Daniel, Castoro, Ryan, Mobley, Bret C., Burnette, Bryan W., Siskind, Carly, Day, John W., Yawn, Robin, Feely, Shawna, Li, Yuebing, Yan, Qing, Shy, Michael E., Li, Jun

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MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A Yazar: Wang, Hongge, Davison, Matthew, Wang, Kathryn, Xia, Tai-he, Call, Katherine M., Luo, Jun, Wu, Xingyao, Zuccarino, Riccardo, Bacha, Alexa, Bai, Yunhong, Gutmann, Laurie, Feely, Shawna M.E., Grider, Tiffany, Rossor, Alexander M., Reilly, Mary M., Shy, Michael E., Svaren, John

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

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Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy Yazar: Abbott, Jamie A., Meyer-Schuman, Rebecca, Lupo, Vincenzo, Feely, Shawna, Mademan, Inès, Oprescu, Stephanie N., Griffin, Laurie B., Alberti, M. Antonia, Casasnovas, Carlos, Aharoni, Sharon, Basel-Vanagaite, Lina, Züchner, Stephan, De Jonghe, Peter, Baets, Jonathan, Shy, Michael E., Espinós, Carmen, Demeler, Borries, Antonellis, Anthony, Francklyn, Christopher

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A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement Yazar: Rebelo, Adriana P, Cortese, Andrea, Abraham, Amit, Eshed-Eisenbach, Yael, Shner, Gal, Vainshtein, Anna, Buglo, Elena, Camarena, Vladimir, Gaidosh, Gabriel, Shiekhattar, Ramin, Abreu, Lisa, Courel, Steve, Burns, Dennis K, Bai, Yunhong, Bacon, Chelsea, Feely, Shawna M E, Castro, Diana, Peles, Elior, Reilly, Mary M, Shy, Michael E, Zuchner, Stephan

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Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement Yazar: Rebelo, Adriana P, Cortese, Andrea, Abraham, Amit, Eshed-Eisenbach, Yael, Shner, Gal, Vainshtein, Anna, Buglo, Elena, Camarena, Vladimir, Gaidosh, Gabriel, Shiekhattar, Ramin, Abreu, Lisa, Courel, Steve, Burns, Dennis K, Bai, Yunhong, Bacon, Chelsea, Feely, Shawna M E, Castro, Diana, Peles, Elior, Reilly, Mary M, Shy, Michael E, Zuchner, Stephan

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Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy Yazar: Kennerson, Marina L., Nicholson, Garth A., Kaler, Stephen G., Kowalski, Bartosz, Mercer, Julian F.B., Tang, Jingrong, Llanos, Roxana M., Chu, Shannon, Takata, Reinaldo I., Speck-Martins, Carlos E., Baets, Jonathan, Almeida-Souza, Leonardo, Fischer, Dirk, Timmerman, Vincent, Taylor, Philip E., Scherer, Steven S., Ferguson, Toby A., Bird, Thomas D., De Jonghe, Peter, Feely, Shawna M.E., Shy, Michael E., Garbern, James Y.

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Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study Yazar: Tao, Feifei, Beecham, Gary W., Rebelo, Adriana P., Blanton, Susan H., Moran, John J., Lopez-Anido, Camila, Svaren, John, Abreu, Lisa, Rizzo, Devon, Kirk, Callyn A., Wu, Xingyao, Feely, Shawna, Verhamme, Camiel, Saporta, Mario A., Herrmann, David N., Day, John W., Sumner, Charlotte J., Lloyd, Thomas E., Li, Jun, Yum, Sabrina W., Taroni, Franco, Baas, Frank, Choi, Byung-Ok, Pareyson, Davide, Scherer, Steven S., Reilly, Mary M., Shy, Michael E., Züchner, Stephan

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