Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities von McCray, Brett A., Scherer, Steven S.

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Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies von Burnor, Elisabeth, Yang, Li, Zhou, Hao, Patterson, Kristina R, Quinn, Colin, Reilly, Mary M, Rossor, Alexander M, Scherer, Steven S, Lancaster, Eric

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Gap junctions in inherited human disorders of the central nervous system von Abrams, Charles K., Scherer, Steven S.

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Molecular mechanisms of inherited demyelinating neuropathies von Scherer, Steven S., Wrabetz, Lawrence

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How do mutations in GJB1 cause X-linked Charcot–Marie–Tooth disease? von Kleopa, Kleopas A, Abrams, Charles K, Scherer, Steven S

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Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling von Wasseff, Sameh K, Scherer, Steven S

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PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models von Zhao, Hien Tran, Damle, Sagar, Ikeda-Lee, Karli, Kuntz, Steven, Li, Jian, Mohan, Apoorva, Kim, Aneeza, Hung, Gene, Scheideler, Mark A, Scherer, Steven S, Svaren, John, Swayze, Eric E, Kordasiewicz, Holly B

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Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia von Lancaster, Eric, Huijbers, Maartje G. M., Bar, Vered, Boronat, Anna, Wong, Andrew, Martinez-Hernandez, Eugenia, Wilson, Christina, Jacobs, Dina, Lai, Meizan, Walker, Russell W., Graus, Francesc, Bataller, Luis, Illa, Isabel, Markx, Sander, Strauss, Kevin A., Peles, Elior, Scherer, Steven S., Dalmau, Josep

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Compound and Digenic Heterozygosity Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy von Xu, Tianhong, PhD, Yang, Zhao, MD, PhD, Vatta, Matteo, PhD, Rampazzo, Alessandra, MD, PhD, Beffagna, Giorgia, PhD, Pillichou, Kalliopi, PhD, Scherer, Steven E., PhD, Saffitz, Jeffrey, MD, PhD, Kravitz, Joshua, BS, Zareba, Wojciech, MD, Danieli, Gian Antonio, PhD, Lorenzon, Alessandra, PhD, Nava, Andrea, MD, Bauce, Barbara, MD, PhD, Thiene, Gaetano, MD, Basso, Cristina, MD, PhD, Calkins, Hugh, MD, Gear, Kathy, RN, Marcus, Frank, MD, Towbin, Jeffrey A., MD

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Myelinated axons fail to develop properly in a genetically authentic mouse model of Charcot-Marie-Tooth disease type 2E von Lancaster, Eunjoo, Li, Jian, Hanania, Taleen, Liem, Ronald, Scheideler, Mark A., Scherer, Steven S.

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Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy von Kagiava, Alexia, Sargiannidou, Irene, Theophilidis, George, Karaiskos, Christos, Richter, Jan, Bashiardes, Stavros, Schiza, Natasa, Nearchou, Marianna, Christodoulou, Christina, Scherer, Steven S., Kleopa, Kleopas A.

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Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease von Murphy, Sinéad M., Herrmann, David N., McDermott, Michael P., Scherer, Steven S., Shy, Michael E., Reilly, Mary M., Pareyson, Davide

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Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes von Cortese, Andrea, Zhu, Yi, Rebelo, Adriana P., Negri, Sara, Courel, Steve, Abreu, Lisa, Bacon, Chelsea J., Bai, Yunhong, Bis-Brewer, Dana M., Bugiardini, Enrico, Buglo, Elena, Danzi, Matt C., Feely, Shawna M. E., Athanasiou-Fragkouli, Alkyoni, Haridy, Nourelhoda A., Isasi, Rosario, Khan, Alaa, Laurà, Matilde, Magri, Stefania, Pipis, Menelaos, Pisciotta, Chiara, Powell, Eric, Rossor, Alexander M., Saveri, Paola, Sowden, Janet E., Tozza, Stefano, Vandrovcova, Jana, Dallman, Julia, Grignani, Elena, Marchioni, Enrico, Scherer, Steven S., Tang, Beisha, Lin, Zhiqiang, Al-Ajmi, Abdullah, Schüle, Rebecca, Synofzik, Matthis, Maisonobe, Thierry, Stojkovic, Tanya, Auer-Grumbach, Michaela, Abdelhamed, Mohamed A., Hamed, Sherifa A., Zhang, Ruxu, Manganelli, Fiore, Santoro, Lucio, Taroni, Franco, Pareyson, Davide, Houlden, Henry, Herrmann, David N., Reilly, Mary M., Shy, Michael E., Zhai, R. Grace, Zuchner, Stephan

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Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints von Reilly, Mary M., Herrmann, David N., Pareyson, Davide, Scherer, Steven S., Finkel, Richard S., Züchner, Stephan, Burns, Joshua, Shy, Michael E.

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High frequency of PIK3R1 and PIK3R2 mutations in endometrial cancer elucidates a novel mechanism for regulation of PTEN protein stability von Cheung, Lydia W T, Hennessy, Bryan T, Li, Jie, Yu, Shuangxing, Myers, Andrea P, Djordjevic, Bojana, Lu, Yiling, Stemke-Hale, Katherine, Dyer, Mary D, Zhang, Fan, Ju, Zhenlin, Cantley, Lewis C, Scherer, Steven E, Liang, Han, Lu, Karen H, Broaddus, Russell R, Mills, Gordon B

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Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 von FOLEY, A. Reghan, MENEZES, Manoj P, HUGHES, Imelda, MCCULLAGH, B. Gary, JUNGBLUTH, Heinz, LIM, Ming J, LIN, Jean-Pierre, MEGARBANE, Andre, ANDONI URTIZBEREA, J, SHAH, Ayaz H, ANTONY, Jayne, WEBSTER, Richard, PANDRAUD, Amelie, BROOMFIELD, Alexander, NG, Joanne, MATHEW, Ann A, O'BYRNE, James J, FORMAN, Eva, SCOTO, Mariacristina, PRASAD, Manish, O'BRIEN, Katherine, OLPIN, Simon, OPPENHEIM, Marcus, GONZALEZ, Michael A, HARGREAVES, Iain, LAND, John M, WANG, Min X, CARPENTER, Kevin, HORVATH, Rita, STRAUB, Volker, LEK, Monkol, GOLD, Wendy, FARRELL, Michael O, BRANDNER, Sebastian, AL-ODAIB, Ahmad, PHADKE, Rahul, MATSUBARA, Kazuo, McCGARVEY, Michael L, SCHERER, Steven S, BAXTER, Peter S, KING, Mary D, CLAYTON, Peter, RAHMAN, Shamima, REILLY, Mary M, OUVRIER, Robert A, ABRAMS, Alexander J, CHRISTODOULOU, John, ZÜCHNER, Stephan, MUNTONI, Francesco, HOULDEN, Henry, SUGANO, Kumiko, YONEZAWA, Atsushi, MANZUR, Adnan Y, BURNS, Joshua

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Blocking bad von Scherer, Steven S

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Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks von Meister-Broekema, Melanie, Freilich, Rebecca, Jagadeesan, Chandhuru, Rauch, Jennifer N., Bengoechea, Rocio, Motley, William W., Kuiper, E. F. Elsiena, Minoia, Melania, Furtado, Gabriel V., van Waarde, Maria A. W. H., Bird, Shawn J., Rebelo, Adriana, Zuchner, Stephan, Pytel, Peter, Scherer, Steven S., Morelli, Federica F., Carra, Serena, Weihl, Conrad C., Bergink, Steven, Gestwicki, Jason E., Kampinga, Harm H.

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Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1) von 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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Genetic Alterations Associated With Progression From Pancreatic Intraepithelial Neoplasia to Invasive Pancreatic Tumor von Murphy, Stephen J, Hart, Steven N, Lima, Joema Felipe, Kipp, Benjamin R, Klebig, Mitchell, Winters, Jennifer L, Szabo, Csilla, Zhang, Lizhi, Eckloff, Bruce W, Petersen, Gloria M, Scherer, Steven E, Gibbs, Richard A, McWilliams, Robert R, Vasmatzis, George, Couch, Fergus J

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