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

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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


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