학술논문
Heterozygous UCHL1 is a novel cause of autosomal dominant neurodegeneration with spasticity, ataxia, neuropathy, and optic atrophy
Document Type
Journal
Author
Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; van Os, Nienke; Horvath, Rita; Chinnery, Patrick; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Tofaris, George K.; Wood, Nicholas; Hayer, Stefanie Nicole; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Krauss, Joachim K.; Blahak, Christian; Strom, Tim; Sturm, Marc; De Warrenburg, Bart Van; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann-Braun, Dagmar; Wolf, Marc; Damien, Smedley; Riess, Olaf; Schoels, Ludger; Hengel, Holger; Houlden, Henry; Haack, Tobias
Source
Subject
Language
English
ISSN
14765438