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

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

dc.contributor.author	Park, Joohyun
dc.contributor.author	Demidov, German
dc.contributor.author	Velic, Ana
dc.contributor.author	Deininger, Natalie
dc.contributor.author	Rautenberg, Maren
dc.contributor.author	Admard, Jakob
dc.contributor.author	Bender, Friedemann
dc.contributor.author	Menden, Benita
dc.contributor.author	Cordts, Isabell
dc.contributor.author	Klein, Katrin
dc.contributor.author	Sturm, Marc
dc.contributor.author	Lerche, Holger
dc.contributor.author	Macek, Boris
dc.contributor.author	Synofzik, Matthis
dc.contributor.author	Ossowski, Stephan
dc.contributor.author	Hengel, Holger
dc.contributor.author	Hayer, Stefanie Nicole
dc.contributor.author	Rieß, Olaf
dc.contributor.author	Schöls, Ludger
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2023-03-21T07:40:58Z
dc.date.available	2023-03-21T07:40:58Z
dc.date.issued	2022
dc.identifier.issn	1098-3600
dc.identifier.uri	http://hdl.handle.net/10900/138298
dc.language.iso	en	de_DE
dc.publisher	Elsevier Science Inc	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.gim.2022.07.006	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy	de_DE
dc.type	Article	de_DE
utue.quellen.id	20230202000000_01093
utue.publikation.seiten	2079-2090	de_DE
utue.personen.roh	Park, Joohyun
utue.personen.roh	Tucci, Arianna
utue.personen.roh	Cipriani, Valentina
utue.personen.roh	Demidov, German
utue.personen.roh	Rocca, Clarissa
utue.personen.roh	Senderek, Jan
utue.personen.roh	Butryn, Michaela
utue.personen.roh	Velic, Ana
utue.personen.roh	Lam, Tanya
utue.personen.roh	Galanaki, Evangelia
utue.personen.roh	Cali, Elisa
utue.personen.roh	Vestito, Letizia
utue.personen.roh	Maroofian, Reza
utue.personen.roh	Deininger, Natalie
utue.personen.roh	Rautenberg, Maren
utue.personen.roh	Admard, Jakob
utue.personen.roh	Hahn, Gesa-Astrid
utue.personen.roh	Bartels, Claudius
utue.personen.roh	van Os, Nienke J. H.
utue.personen.roh	Horvath, Rita
utue.personen.roh	Chinnery, Patrick F.
utue.personen.roh	Tiet, May Yung
utue.personen.roh	Hewamadduma, Channa
utue.personen.roh	Hadjivassiliou, Marios
utue.personen.roh	Tofaris, George K.
utue.personen.roh	Wood, Nicholas W.
utue.personen.roh	Hayer, Stefanie N.
utue.personen.roh	Bender, Friedemann
utue.personen.roh	Menden, Benita
utue.personen.roh	Cordts, Isabell
utue.personen.roh	Klein, Katrin
utue.personen.roh	Huu Phuc Nguyen
utue.personen.roh	Krauss, Joachim K.
utue.personen.roh	Blahak, Christian
utue.personen.roh	Strom, Tim M.
utue.personen.roh	Sturm, Marc
utue.personen.roh	van de Warrenburg, Bart
utue.personen.roh	Lerche, Holger
utue.personen.roh	Macek, Boris
utue.personen.roh	Synofzik, Matthis
utue.personen.roh	Ossowski, Stephan
utue.personen.roh	Timmann, Dagmar
utue.personen.roh	Wolf, Marc E.
utue.personen.roh	Smedley, Damian
utue.personen.roh	Riess, Olaf
utue.personen.roh	Schoels, Ludger
utue.personen.roh	Houlden, Henry
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Hengel, Holger
dcterms.isPartOf.ZSTitelID	Genetics in Medicine	de_DE
dcterms.isPartOf.ZS-Issue	10	de_DE
dcterms.isPartOf.ZS-Volume	24	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE
utue.fakultaet	07 Mathematisch-Naturwissenschaftliche Fakultät	de_DE