A novel mutation in VCP causes Charcot―Marie―Tooth Type 2 disease
GONZALEZ, Michael A, FEELY, Shawna M, ZUCHNER, Stephan, SHY, Michael E, SPEZIANI, Fiorella, STRICKLAND, Alleene V, DANZI, Matt, BACON, Chelsea, YOUJIN LEE, CHOU, Tsui-Fen, BLANTON, Susan H, WEIHL, Conrad C
Published in Brain (London, England : 1878) (01.11.2014)
Published in Brain (London, England : 1878) (01.11.2014)
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The Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM)
Eichinger, Katy, Burns, Joshua, Cornett, Kayla, Bacon, Chelsea, Shepherd, Mary Lohse, Mountain, Joan, Sowden, Janet, Shy, Rosemary, Shy, Michael E, Herrmann, David N
Published in Neurology (09.10.2018)
Published in Neurology (09.10.2018)
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A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores
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
Published in Neurology (03.03.2020)
Published in Neurology (03.03.2020)
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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2
Lassuthova, Petra, Rebelo, Adriana P., Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Manganelli, Fiore, Feely, Shawna M., Bacon, Chelsea, Brožková, Dana Šafka, Haberlova, Jana, Mazanec, Radim, Tao, Feifei, Saghira, Cima, Abreu, Lisa, Courel, Steve, Powell, Eric, Buglo, Elena, Bis, Dana M., Baxter, Megan F., Ong, Royston W., Marns, Lorna, Lee, Yi-Chung, Bai, Yunhong, Isom, Daniel G., Barro-Soria, René, Chung, Ki W., Scherer, Steven S., Larsson, H. Peter, Laing, Nigel G., Choi, Byung-Ok, Seeman, Pavel, Shy, Michael E., Santoro, Lucio, Zuchner, Stephan
Published in American journal of human genetics (01.03.2018)
Published in American journal of human genetics (01.03.2018)
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A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs)
Pareyson, Davide, Stojkovic, Tanya, Reilly, Mary M., Leonard‐Louis, Sarah, Laurà, Matilde, Blake, Julian, Parman, Yesim, Battaloglu, Esra, Tazir, Meriem, Bellatache, Mounia, Bonello‐Palot, Nathalie, Lévy, Nicolas, Sacconi, Sabrina, Guimarães‐Costa, Raquel, Attarian, Sharham, Latour, Philippe, Solé, Guilhem, Megarbane, André, Horvath, Rita, Ricci, Giulia, Choi, Byung‐Ok, Schenone, Angelo, Gemelli, Chiara, Geroldi, Alessandro, Sabatelli, Mario, Luigetti, Marco, Santoro, Lucio, Manganelli, Fiore, Quattrone, Aldo, Valentino, Paola, Murakami, Tatsufumi, Scherer, Steven S., Dankwa, Lois, Shy, Michael E., Bacon, Chelsea J., Herrmann, David N., Zambon, Alberto, Tramacere, Irene, Pisciotta, Chiara, Magri, Stefania, Previtali, Stefano C., Bolino, Alessandra
Published in Annals of neurology (01.07.2019)
Published in Annals of neurology (01.07.2019)
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Assessing non-Mendelian inheritance in inherited axonopathies
Bis-Brewer, Dana M, Gan-Or, Ziv, Sleiman, Patrick, Hakonarson, Hakon, Fazal, Sarah, Courel, Steve, Cintra, Vivian, Tao, Feifei, Estiar, Mehrdad A, Tarnopolsky, Mark, Boycott, Kym M, Yoon, Grace, Suchowersky, Oksana, Dupré, Nicolas, Cheng, Andrew, Lloyd, Thomas E, Rouleau, Guy, Schüle, Rebecca, Züchner, Stephan
Published in Genetics in medicine (01.12.2020)
Published in Genetics in medicine (01.12.2020)
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Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis
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.
Published in Journal of the peripheral nervous system (01.09.2014)
Published in Journal of the peripheral nervous system (01.09.2014)
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Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
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
Published in Nature genetics (01.06.2020)
Published in Nature genetics (01.06.2020)
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Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A
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.
Published in Annals of clinical and translational neurology (01.01.2020)
Published in Annals of clinical and translational neurology (01.01.2020)
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Biallelic mutations in sord are a common cause of potentially treatable genetic neuropathy
Cortese, Andrea, Zhu, Yi, Rebelo, Adriana, Negri, Sara, Courel, Steve, Abreu, Lisa, Bacon, Chelsea J, Bai, Yunhong, Bis-Brewer, Dana M
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2022)
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2022)
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Schwann cell transcript biomarkers for hereditary neuropathy skin biopsies
Svaren, John, Moran, John J., Wu, Xingyao, Zuccarino, Riccardo, Bacon, Chelsea, Bai, Yunhong, Ramesh, Raghu, Gutmann, Laurie, Anderson, Daniel M., Pavelec, Derek, Shy, Michael E.
Published in Annals of neurology (01.06.2019)
Published in Annals of neurology (01.06.2019)
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Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study
Fridman, Vera, Sillau, Stefan, Bockhorst, Jacob, Smith, Kaitlin, Moroni, Isabella, Pagliano, Emanuela, Pisciotta, Chiara, Piscosquito, Guiseppe, Laurá, Matilde, Muntoni, Francesco, Bacon, Chelsea, Feely, Shawna, Grider, Tiffany, Gutmann, Laurie, Shy, Rosemary, Wilcox, Janel, Herrmann, David N., Li, Jun, Ramchandren, Sindhu, Sumner, Charlotte J., Lloyd, Thomas E., Day, John, Siskind, Carly E., Yum, Sabrina W., Sadjadi, Reza, Finkel, Richard S., Scherer, Steven S., Pareyson, Davide, Reilly, Mary M., Shy, Michael E.
Published in Annals of neurology (01.03.2023)
Published in Annals of neurology (01.03.2023)
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Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene
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
Published in Brain (London, England : 1878) (01.11.2015)
Published in Brain (London, England : 1878) (01.11.2015)
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Differences in the neural correlates of schizophrenia with positive and negative formal thought disorder in patients with schizophrenia in the ENIGMA dataset
Sharkey, Rachel J, Bacon, Chelsea, Peterson, Zeru, Rootes-Murdy, Kelly, Salvador, Raymond, Pomarol-Clotet, Edith, Karuk, Andriana, Homan, Philipp, Ji, Ellen, Omlor, Wolfgang, Homan, Stephanie, Georgiadis, Foivos, Kaiser, Stefan, Kirschner, Matthias, Ehrlich, Stefan, Dannlowski, Udo, Grotegerd, Dominik, Goltermann, Janik, Meinert, Susanne, Kircher, Tilo, Stein, Frederike, Brosch, Katharina, Krug, Axel, Nenadic, Igor, Sim, Kang, Spalletta, Gianfranco, Banaj, Nerisa, Sponheim, Scott R, Demro, Caroline, Ramsay, Ian S, King, Margaret, Quidé, Yann, Green, Melissa Jane, Nguyen, Dana, Preda, Adrian, Calhoun, Vince, Turner, Jessica, van Erp, Theo, Nickl-Jockschat, Thomas
Published in Molecular psychiatry (26.04.2024)
Published in Molecular psychiatry (26.04.2024)
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A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement
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
Published in Brain (London, England : 1878) (07.05.2021)
Published in Brain (London, England : 1878) (07.05.2021)
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Disease Progression in CMT related to MPZ Mutations: A Longitudinal Study
Fridman, Vera, Sillau, Stefan, Bockhorst, Jacob, Smith, Kaitlin, Moroni, Isabella, Pagliano, Emanuela, Pisciotta, Chiara, Piscosquito, Guiseppe, Laurá, Matilde, Muntoni, Francesco, Bacon, Chelsea, Feely, Shawna, Grider, Tiffany, Gutmann, Laurie, Shy, Rosemary, Wilcox, Janel, Herrmann, David N., Li, Jun, Ramchandren, Sindhu, Sumner, Charlotte J., Lloyd, Thomas E., Day, John, Siskind, Carly E., Yum, Sabrina W., Sadjadi, Reza, Finkel, Richard S., Scherer, Steven S., Pareyson, Davide, Reilly, Mary M, Shy, Michael E.
Published in Annals of neurology (28.10.2022)
Published in Annals of neurology (28.10.2022)
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Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement
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
Published in Brain (London, England : 1878) (17.08.2021)
Published in Brain (London, England : 1878) (17.08.2021)
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Variation in SIPA1L2 is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A
Tao, Feifei, Beecham, Gary W., Rebelo, Adriana P., Svaren, John, Blanton, Susan H., Moran, John J., Lopez‐Anido, Camila, Morrow, Jasper M., 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
Published in Annals of neurology (01.03.2019)
Published in Annals of neurology (01.03.2019)
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