by Baets, Jonathan, Duan, Xiaohui, Wu, Yanhong, Smith, Gordon, Seeley, William W., Mademan, Inès, McGrath, Nicole M., Beadell, Noah C., Khoury, Julie, Botuyan, Maria-Victoria, Mer, Georges, Worrell, Gregory A., Hojo, Kaori, DeLeon, Jessica, Laura, Matilde, Liu, Yo-Tsen, Senderek, Jan, Weis, Joachim, Van den Bergh, Peter, Merrill, Shana L., Reilly, Mary M., Houlden, Henry, Grossman, Murray, Scherer, Steven S., De Jonghe, Peter, Dyck, Peter J., Klein, Christopher J.
Published in Brain (London, England : 1878) (01.04.2015)

by Chen, Ya-Chun, Auer-Grumbach, Michaela, Matsukawa, Shinya, Zitzelsberger, Manuela, Themistocleous, Andreas C, Strom, Tim M, Samara, Chrysanthi, Moore, Adrian W, Cho, Lily Ting-Yin, Young, Gareth T, Weiss, Caecilia, Schabhüttl, Maria, Stucka, Rolf, Schmid, Annina B, Parman, Yesim, Graul-Neumann, Luitgard, Heinritz, Wolfram, Passarge, Eberhard, Watson, Rosemarie M, Hertz, Jens Michael, Moog, Ute, Baumgartner, Manuela, Valente, Enza Maria, Pereira, Diego, Restrepo, Carlos M, Katona, Istvan, Dusl, Marina, Stendel, Claudia, Wieland, Thomas, Stafford, Fay, Reimann, Frank, von Au, Katja, Finke, Christian, Willems, Patrick J, Nahorski, Michael S, Shaikh, Samiha S, Carvalho, Ofélia P, Nicholas, Adeline K, Karbani, Gulshan, McAleer, Maeve A, Cilio, Maria Roberta, McHugh, John C, Murphy, Sinead M, Irvine, Alan D, Jensen, Uffe Birk, Windhager, Reinhard, Weis, Joachim, Bergmann, Carsten, Rautenstrauss, Bernd, Baets, Jonathan, De Jonghe, Peter, Reilly, Mary M, Kropatsch, Regina, Kurth, Ingo, Chrast, Roman, Michiue, Tatsuo, Bennett, David L H, Woods, C Geoffrey, Senderek, Jan
Published in Nature genetics (01.07.2015)

by Triplett, James, Nicholson, Garth, Sue, Carolyn, Hornemann, Thorsten, Yiannikas, Con
Published in Journal of the peripheral nervous system (01.06.2019)

by Otero, Maria G., Tiongson, Emmanuelle, Diaz, Frank, Haude, Katrina, Panzer, Karin, Collier, Ashley, Kim, Jaemin, Adams, David, Tifft, Cynthia J., Cui, Hong, Millian Zamora, Francisca, Au, Margaret G., Graham, John M., Buckley, David J., Lewis, Richard, Toro, Camilo, Bai, Renkui, Turner, Lesley, Mathews, Katherine D., Gahl, William, Pierson, Tyler Mark
Published in Annals of clinical and translational neurology (01.01.2019)

by Vance, J M, Speer, M C, Stajich, J M, West, S, Wolpert, C, Gaskell, P, Lennon, F, Tim, R M, Rozear, M, Othmane, K B
Published in American journal of human genetics (01.07.1996)

by Tamari, I, Goodman, R M, Sarova, I, Hertz, M, Adar, R, Zvibach, T
Published in Journal of medical genetics (01.12.1980)