Identity-by-descent analysis of CMTX3 links three families through a common founder by Henden, Lyndal, Grosz, Bianca R, Ellis, Melina, Nicholson, Garth A, Kennerson, Marina, Williams, Kelly L

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Novel gene–intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy by Cutrupi, Anthony N, Narayanan, Ramesh K, Perez-Siles, Gonzalo, Grosz, Bianca R, Lai, Kaitao, Boyling, Alexandra, Ellis, Melina, Lin, Ruby C Y, Neumann, Brent, Mao, Di, Uesugi, Motonari, Nicholson, Garth A, Vucic, Steve, Saporta, Mario A, Kennerson, Marina L

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A deep intronic variant in MME causes autosomal recessive Charcot–Marie–Tooth neuropathy through aberrant splicing by Grosz, Bianca R., Parmar, Jevin M., Ellis, Melina, Bryen, Samantha, Simons, Cas, Reis, Andre L. M., Stevanovski, Igor, Deveson, Ira W., Nicholson, Garth, Laing, Nigel, Wallis, Mathew, Ravenscroft, Gianina, Kumar, Kishore R., Vucic, Steve, Kennerson, Marina L.

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Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy by Grosz, Bianca R., Stevanovski, Igor, Negri, Sara, Ellis, Melina, Barnes, Stephanie, Reddel, Stephen, Vucic, Steve, Nicholson, Garth A., Cortese, Andrea, Kumar, Kishore R., Deveson, Ira W., Kennerson, Marina L.

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A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy) by Grosz, Bianca R., Golovchenko, Natasha B., Ellis, Melina, Kumar, Kishore, Nicholson, Garth A., Antonellis, Anthony, Kennerson, Marina L.

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Revisiting the pathogenic mechanism of the GJB1 5’ UTR c.-103C > T mutation causing CMTX1 by Grosz, Bianca R., Svaren, John, Perez-Siles, Gonzalo, Nicholson, Garth A., Kennerson, Marina L.

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Genome sequencing reanalysis increases the diagnostic yield in dystonia by Fellner, Avi, Wali, Gurusidheshwar M., Mahant, Neil, Grosz, Bianca R., Ellis, Melina, Narayanan, Ramesh K., Ng, Karl, Davis, Ryan L., Tchan, Michel C., Kotschet, Katya, Yeow, Dennis, Rudaks, Laura I., Siow, Sue-Faye, Wali, Gautam, Yiannikas, Con, Hobbs, Matthew, Copty, Joseph, Geaghan, Michael, Darveniza, Paul, Liang, Christina, Williams, Laura J., Chang, Florence C.F., Morales-Briceño, Hugo, Tisch, Stephen, Hayes, Michael, Whyte, Scott, Kummerfeld, Sarah, Kennerson, Marina L., Cowley, Mark J., Fung, Victor S.C., Sue, Carolyn M., Kumar, Kishore R.

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A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing by Grosz, Bianca R., Tisch, Stephen, Tchan, Michel C., Fung, Victor S. C., Darveniza, Paul, Fellner, Avi, Kurian, Manju A., McLean, Alison, Tomlinson, Susan E., Smyth, Renee, Devery, Sophie, Wu, Kathy H. C., Kennerson, Marina L., Kumar, Kishore R.

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A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity by Beijer, Danique, Dohrn, Maike F, Rebelo, Adriana, Danzi, Matt C, Grosz, Bianca Rose, Ellis, Melina, Kumar, Kishore R, Vucic, Steve, Vais, Horia, Weissenrieder, Jillian S, Lunko, Olesia, Paudel, Usha, Simpson, Leah C, Raposo, Jacquelyn, Saporta, Mario, Arcia, Yeisha, Xu, Isaac, Feely, Shawna, Record, Christopher J, Blake, Julian, Reilly, Mary M, Scherer, Steven, Kennerson, Marina, Lee, Yi-Chung, Foskett, J Kevin, Shy, Michael, Zuchner, Stephan

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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry by Cortese, Andrea, Beecroft, Sarah J., Facchini, Stefano, Curro, Riccardo, Cabrera-Serrano, Macarena, Stevanovski, Igor, Chintalaphani, Sanjog R., Gamaarachchi, Hasindu, Weisburd, Ben, Folland, Chiara, Monahan, Gavin, Scriba, Carolin K., Dofash, Lein, Johari, Mridul, Grosz, Bianca R., Ellis, Melina, Fearnley, Liam G., Tankard, Rick, Read, Justin, Merve, Ashirwad, Dominik, Natalia, Vegezzi, Elisa, Schnekenberg, Ricardo P., Fernandez-Eulate, Gorka, Masingue, Marion, Giovannini, Diane, Delatycki, Martin B., Storey, Elsdon, Gardner, Mac, Amor, David J., Nicholson, Garth, Vucic, Steve, Henderson, Robert D., Robertson, Thomas, Dyke, Jason, Fabian, Vicki, Mastaglia, Frank, Davis, Mark R., Kennerson, Marina, Quinlivan, Ros, Hammans, Simon, Tucci, Arianna, Bahlo, Melanie, McLean, Catriona A., Laing, Nigel G., Stojkovic, Tanya, Houlden, Henry, Hanna, Michael G., Deveson, Ira W., Lockhart, Paul J., Lamont, Phillipa J., Fahey, Michael C., Bugiardini, Enrico, Ravenscroft, Gianina

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Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry by Cortese, Andrea, Beecroft, Sarah J., Facchini, Stefano, Curro, Riccardo, Cabrera-Serrano, Macarena, Stevanovski, Igor, Chintalaphani, Sanjog R., Gamaarachchi, Hasindu, Weisburd, Ben, Folland, Chiara, Monahan, Gavin, Scriba, Carolin K., Dofash, Lein, Johari, Mridul, Grosz, Bianca R., Ellis, Melina, Fearnley, Liam G., Tankard, Rick, Read, Justin, Merve, Ashirwad, Dominik, Natalia, Vegezzi, Elisa, Schnekenberg, Ricardo P., Fernandez-Eulate, Gorka, Masingue, Marion, Giovannini, Diane, Delatycki, Martin B., Storey, Elsdon, Gardner, Mac, Amor, David J., Nicholson, Garth, Vucic, Steve, Henderson, Robert D., Robertson, Thomas, Dyke, Jason, Fabian, Vicki, Mastaglia, Frank, Davis, Mark R., Kennerson, Marina, Quinlivan, Ros, Hammans, Simon, Tucci, Arianna, Bahlo, Melanie, McLean, Catriona A., Laing, Nigel G., Stojkovic, Tanya, Houlden, Henry, Hanna, Michael G., Deveson, Ira W., Lockhart, Paul J., Lamont, Phillipa J., Fahey, Michael C., Bugiardini, Enrico, Ravenscroft, Gianina

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An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa‐Responsive Dystonia by El‐Wahsh, Shadi, Fellner, Avi, Hobbs, Matthew, Copty, Joe, Deveson, Ira, Stevanovski, Igor, Stoll, Marion, Zhu, Danqing, Narayanan, Ramesh K., Grosz, Bianca, Worgan, Lisa, Cheong, Pak Leng, Yeow, Dennis, Rudaks, Laura, Hasan, Md Mehedi, Hayes, Vanessa M., Kennerson, Marina, Kumar, Kishore R., Hayes, Michael

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Blood pressure-independent effects of enhanced NO/cGMP signalling and gender on aortic remodelling in experimental renal hypertension by Grosz, Bianca, Krämer, Stephanie, Loof, Tanja, Neumayer, Hans H, Wang-Rosenke, Yingrui, Peters, Harm

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An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia by El-Wahsh, Shadi, Fellner, Avi, Hobbs, Matthew, Copty, Joe, Deveson, Ira, Stevanovski, Igor, Stoll, Marion, Zhu, Danqing, Narayanan, Ramesh K, Grosz, Bianca, Worgan, Lisa, Cheong, Pak Leng, Yeow, Dennis, Rudaks, Laura, Hasan, Md Mehedi, Hayes, Vanessa M, Kennerson, Marina, Kumar, Kishore R, Hayes, Michael

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Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy by Grosz, Bianca R, Stevanovski, Igor, Negri, Sara, Ellis, Melina, Barnes, Stephanie, Reddel, Stephen, Vucic, Steve, Nicholson, Garth A, Cortese, Andrea, Kumar, Kishore R, Deveson, Ira W, Kennerson, Marina L

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Evaluation of denitrification and decomposition from three biogeochemical models using laboratory measurements of N2, N2O and CO2 by Grosz, Balázs, Well, Reinhard, Dechow, Rene, Köster, Jan Reent, Mohammad Ibrahim Khalil, Merl, Simone, Rode, Andreas, Ziehmer, Bianca, Matson, Amanda, He, Hongxing

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Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled ph... by Köhler, Wolfgang, Engelen, Marc, Eichler, Florian, Lachmann, Robin, Fatemi, Ali, Sampson, Jacinda, Salsano, Ettore, Gamez, Josep, Molnar, Maria Judit, Pascual, Sílvia, Rovira, Maria, Vilà, Anna, Pina, Guillem, Martín-Ugarte, Itziar, Mantilla, Adriana, Pizcueta, Pilar, Rodríguez-Pascau, Laura, Traver, Estefania, Vilalta, Anna, Pascual, María, Martinell, Marc, Meya, Uwe, Mochel, Fanny, Mc Govern, Eavan, Yazbeck, Elise, Barbier, Magali, Luton, Marie-Pierre, Pousset, Françoise, Hogrel, Jean-Yves, Adanyeguh, Isaac, Then Bergh, Florian, Bergner, Caroline, Unterlauft, Astrid, Roicke, Hannes, Hoffmann, Karl-Titus, Scherlach, Cordula, Kalb, Andrea, Meilick, Bianca, Reuschel, Mandy, Fenu, Silvia, Mauro, Elena, Murphy, Elaine, Krishna, Gauri, Beyene, Tiggy, Sierra, Alba, Quiñoa, Sara, Belen Canovas, Anna, Grosz, Zoltan, Györgyi, Báthori, van de Stadt, S.I., Huffnagel, I.C., van Ballegoij, W.J.C., Voermans, M.M.C., Seyedsadjadi, Reza, Corre, Camille, Godbole, Neha, Grant, Natalie Rose, Brito Pires, Claudia Maria, Trovato, Melissa, Yeh, Nancy, Goodman, Jordan, Keller, Jennifer, Joseph, Chris, Van Haren, Keith, Sakamuri, Sarada, Duong, Tina, Perrone, Lila, Tran, Stephanie, Dunaway Young, Sally, Hashmi, Syed

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Evaluation of denitrification and decomposition from three biogeochemical models using laboratory measurements of N 2 , N 2 O and CO 2 by Grosz, Balázs, Well, Reinhard, Dechow, Rene, Köster, Jan Reent, Khalil, Mohammad Ibrahim, Merl, Simone, Rode, Andreas, Ziehmer, Bianca, Matson, Amanda, He, Hongxing

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Evaluation of denitrification and decomposition from three biogeochemical models using laboratory measurements of N.sub.2, N.sub.2O and CO.sub.2 by Grosz, Balázs, Well, Reinhard, Dechow, Rene, Köster, Jan Reent, Khalil, Mohammad Ibrahim, Merl, Simone, Rode, Andreas, Ziehmer, Bianca, Matson, Amanda, He, Hongxing

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