Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

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 J. H.; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Tofaris, George K.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Huu Phuc Nguyen; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; van de Warrenburg, Bart; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schoels, Ludger; Houlden, Henry; Haack, Tobias B.; Hengel, Holger
Tübinger Autor(en):
Park, Joohyun
Demidov, German
Velic, Ana
Deininger, Natalie
Rautenberg, Maren
Admard, Jakob
Bender, Friedemann
Menden, Benita
Cordts, Isabell
Klein, Katrin
Sturm, Marc
Lerche, Holger
Macek, Boris
Synofzik, Matthis
Ossowski, Stephan
Hengel, Holger
Hayer, Stefanie Nicole
Rieß, Olaf
Schöls, Ludger
Haack, Tobias
Published in: Genetics in Medicine (2022), Bd. 24, H. 10, S. 2079-2090
Verlagsangabe: Elsevier Science Inc
Language: English
Full text: http://dx.doi.org/10.1016/j.gim.2022.07.006
ISSN: 1098-3600
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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