Bilaketaren emaitzak - Yum, Sabrina W

Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30 nork Yum, Sabrina W., Zhang, Junxian, Scherer, Steven S.

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Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26 nork Zhang, Junxian, Scherer, Steven S., Yum, Sabrina W.

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A Novel Recessive NEFL Mutation Causes a Severe, Early-Onset Axonal Neuropathy nork Yum, Sabrina W., Zhang, Junxian, Mo, Katie, Li, Jian, Scherer, Steven S.

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Connexin43 Expression Increases in the Epithelium and Stroma along the Colonic Neoplastic Progression Pathway: Implications for Its Oncogenic Role nork Han, Yusheng, Zhang, Paul J., Chen, Terina, Yum, Sabrina W., Pasha, Teresa, Furth, Emma E.

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Thoracoscopic thymectomy for juvenile myasthenia gravis nork Kim, Aimee G., Upah, Sydney A., Brandsema, John F., Yum, Sabrina W., Blinman, Thane A.

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Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I nork Harding, Brian N., Kariya, Shingo, Monani, Umrao R., Chung, Wendy K., Benton, Maryjane, Yum, Sabrina W., Tennekoon, Gihan, Finkel, Richard S.

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A multidisciplinary approach to dosing nusinersen for spinal muscular atrophy nork Zingariello, Carla D., Brandsema, John, Drum, Elizabeth, Henderson, Alicia A., Dubow, Scott, Glanzman, Allan M., Mayer, Oscar, Yum, Sabrina W., Kichula, Elizabeth A.

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Central nervous system dysfunction in a mouse model of FA2H deficiency nork Potter, Kathleen A., Kern, Michael J., Fullbright, George, Bielawski, Jacek, Scherer, Steven S., Yum, Sabrina W., Li, Jian J., Cheng, Hua, Han, Xianlin, Venkata, Jagadish Kummetha, Khan, P. Akbar Ali, Rohrer, Bärbel, Hama, Hiroko

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βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy nork Wang, Chih-Chuan, Ortiz-González, Xilma R., Yum, Sabrina W., Gill, Sara M., White, Amy, Kelter, Erin, Seaver, Laurie H., Lee, Sansan, Wiley, Graham, Gaffney, Patrick M., Wierenga, Klaas J., Rasband, Matthew N.

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A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study nork Beggs, Alan H., Byrne, Barry J., De Chastonay, Sabine, Haselkorn, Tmirah, Hughes, Imelda, James, Emma S., Kuntz, Nancy L., Simon, Jennifer, Swanson, Lindsay C., Yang, Michele L., Yu, Zi‐Fan, Yum, Sabrina W., Prasad, Suyash

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Assembly of the cochlear gap junction macromolecular complex requires connexin 26 nork Kamiya, Kazusaku, Yum, Sabrina W., Kurebayashi, Nagomi, Muraki, Miho, Ogawa, Kana, Karasawa, Keiko, Miwa, Asuka, Guo, Xueshui, Gotoh, Satoru, Sugitani, Yoshinobu, Yamanaka, Hitomi, Ito-Kawashima, Shioko, Iizuka, Takashi, Sakurai, Takashi, Noda, Tetsuo, Minowa, Osamu, Ikeda, Katsuhisa

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Homozygous Boricua TBCK Mutation Causes Neurodegeneration and Aberrant Autophagy nork Ortiz-González, Xilma R, Tintos-Hernández, Jesus A, Keller, Kierstin, Li, Xueli, Foley, A. Reghan, Bharucha-Goebel, Diana X, Kessler, Sudha K, Yum, Sabrina W., Crino, Peter B., He, Miao, Wallace, Douglas C, Bönnemann, Carsten G.

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De novo PMP2 mutations in families with type 1 Charcot–Marie–Tooth disease nork Motley, William W., Palaima, Paulius, Yum, Sabrina W., Gonzalez, Michael A., Tao, Feifei, Wanschitz, Julia V., Strickland, Alleene V., Löscher, Wolfgang N., De Vriendt, Els, Koppi, Stefan, Medne, Livija, Janecke, Andreas R., Jordanova, Albena, Zuchner, Stephan, Scherer, Steven S.

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Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1) nork Panosyan, Francis B., Laura, Matilde, Rossor, Alexander M., Pisciotta, Chiara, Piscosquito, Giuseppe, Burns, Joshua, Li, Jun, Yum, Sabrina W., Lewis, Richard A., Day, John, Horvath, Rita, Herrmann, David N., Shy, Michael E., Pareyson, Davide, Reilly, Mary M., Scherer, Steven S.

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Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy nork Ahrens-Nicklas, Rebecca C., Pappas, Christopher T., Farman, Gerrie P., Mayfield, Rachel M., Larrinaga, Tania M., Medne, Livija, Ritter, Alyssa, Krantz, Ian D., Murali, Chaya, Lin, Kimberly Y., Berger, Justin H., Yum, Sabrina W., Carreon, Chrystalle Katte, Gregorio, Carol C.

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Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis nork Graham, Robert J, Muntoni, Francesco, Hughes, Imelda, Yum, Sabrina W, Kuntz, Nancy L, Yang, Michele L, Byrne, Barry J, Prasad, Suyash, Alvarez, Rachel, Genetti, Casie A, Haselkorn, Tmirah, James, Emma S, LaRusso, Laurie B, Noursalehi, Mojtaba, Rico, Salvador, Beggs, Alan H

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Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS nork Cornett, Kayla M. D., Menezes, Manoj P., Bray, Paula, Shy, Rosemary R., Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Estilow, Tim, Yum, Sabrina W., Bhandari, Trupti, Muntoni, Francesco, Laura, Matilde, Reilly, Mary M., Finkel, Richard S., Eichinger, Katy J., Herrmann, David N., Shy, Michael E., Burns, Joshua

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Natural history of Charcot-Marie-Tooth disease during childhood nork Cornett, Kayla MD, Menezes, Manoj P, Shy, Rosemary R, Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Estilow, Timothy, Yum, Sabrina W, Bhandari, Trupti, Muntoni, Francesco, Laura, Matilde, Reilly, Mary M, Finkel, Richard S, Eichinger, Kate J, Herrmann, David N, Bray, Paula, Halaki, Mark, Shy, Michael E, Burns, Joshua

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Development and validation of the Charcot-Marie-Tooth Disease Infant Scale nork Mandarakas, Melissa R, Menezes, Manoj P, Rose, Kristy J, Shy, Rosemary, Eichinger, Kate, Foscan, Maria, Estilow, Timothy, Kennedy, Rachel, Herbert, Karen, Bray, Paula, Refshauge, Kathryn, Ryan, Monique M, Yiu, Eppie M, Farrar, Michelle, Sampaio, Hugo, Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Yum, Sabrina W, Herrmann, David N, Acsadi, Gyula, Shy, Michael E, Burns, Joshua, Sanmaneechai, Oranee

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Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale nork Mandarakas, Melissa R, Menezes, Manoj P, Rose, Kristy J, Shy, Rosemary, Eichinger, Kate, Foscan, Maria, Estilow, Timothy, Kennedy, Rachel, Herbert, Karen, Bray, Paula, Refshauge, Kathryn, Ryan, Monique M, Yiu, Eppie M, Farrar, Michelle, Sampaio, Hugo, Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Yum, Sabrina W, Herrmann, David N, Acsadi, Gyula, Shy, Michael E, Burns, Joshua, Sanmaneechai, Oranee

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