Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
by Park, Joohyun (Author)
, Tucci, Arianna (Author)
, Cipriani, Valentina (Author)
, Demidov, German (Author)
, Rocca, Clarissa (Author)
, Senderek, Jan (Author)
, Butryn, Michaela (Author)
, Velic, Ana (Author)
, Lam, Tanya (Author)
, Galanaki, Evangelia (Author)
, Cali, Elisa (Author)
, Vestito, Letizia (Author)
, Maroofian, Reza (Author)
, Deininger, Natalie (Author)
, Rautenberg, Maren (Author)
, Admard, Jakob (Author)
, Hahn, Gesa-Astrid (Author)
, Bartels, Claudius (Author)
, Os, Nienke J. H. van (Author)
, Horvath, Rita (Author)
, Chinnery, Patrick F. (Author)
, Tiet, May Yung (Author)
, Hewamadduma, Channa (Author)
, Hadjivassiliou, Marios (Author)
, Tofaris, George K. (Author)
, Wood, Nicholas (Author)
, Hayer, Stefanie Nicole (Author)
, Bender, Friedemann (Author)
, Menden, Benita (Author)
, Cordts, Isabell (Author)
, Klein, Katrin (Author)
, Nguyen, Huu Phuc (Author)
, Krauss, Joachim K. (Author)
, Blahak, Christian (Author)
, Strom, Tim M. (Author)
, Sturm, Marc (Author)
, Warrenburg, Bart Petrus Christoffel van de (Author)
, Lerche, Holger (Author)
, Maček, Boris (Author)
, Synofzik, Matthis (Author)
, Ossowski, Stephan (Author)
, Timmann-Braun, Dagmar (Author)
, Wolf, Marc (Author)
, Smedley, Damian (Author)
, Rieß, Olaf (Author)
, Schöls, Ludger (Author)
, Houlden, Henry (Author)
, Haack, Tobias (Author)
, Hengel, Holger (Author)
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