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1 Ergebnisse
1
Heterozygous UCHL1 loss-of-function variants cause a neurod..:
Park, Joohyun
;
Tucci, Arianna
;
Cipriani, Valentina
...
https://discovery.ucl.ac.uk/id/eprint/10159885/2/Houlden_UCHL1_main_document_PARK_revised_clean%2Bnew%20patient.pdf. , 2022
Link:
https://discovery.ucl.ac.uk/id/eprint/10159885/2/Hould..
RT Journal T1
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:10159885&Exemplar=1&LAN=DE A1 Park, Joohyun A1 Tucci, Arianna A1 Cipriani, Valentina A1 Demidov, German A1 Rocca, Clarissa A1 Senderek, Jan A1 Butryn, Michaela A1 Velic, Ana A1 Lam, Tanya A1 Galanaki, Evangelia A1 Cali, Elisa A1 Vestito, Letizia A1 Maroofian, Reza A1 Deininger, Natalie A1 Rautenberg, Maren A1 Admard, Jakob A1 Hahn, Gesa-Astrid A1 Bartels, Claudius A1 van Os, Nienke JH A1 Horvath, Rita A1 Chinnery, Patrick F A1 Tiet, May Yung A1 Hewamadduma, Channa A1 Hadjivassiliou, Marios A1 Tofaris, George K A1 Genomics England Research Consortium A1 Wood, Nicholas W A1 Hayer, Stefanie N A1 Bender, Friedemann A1 Menden, Benita A1 Cordts, Isabell A1 Klein, Katrin A1 Nguyen, Huu Phuc A1 Krauss, Joachim K A1 Blahak, Christian A1 Strom, Tim M A1 Sturm, Marc A1 van de Warrenburg, Bart A1 Lerche, Holger A1 Maček, Boris A1 Synofzik, Matthis A1 Ossowski, Stephan A1 Timmann, Dagmar A1 Wolf, Marc E A1 Smedley, Damian A1 Riess, Olaf A1 Schöls, Ludger A1 Houlden, Henry A1 Haack, Tobias B A1 Hengel, Holger PB Elsevier BV YR 2022 K1 Gene burden K1 Proteomics K1 Spastic ataxia K1 UCHL1 JF https://discovery.ucl.ac.uk/id/eprint/10159885/2/Houlden_UCHL1_main_document_PARK_revised_clean%2Bnew%20patient.pdf LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10159885/2/Houlden_UCHL1_main_document_PARK_revised_clean%2Bnew%20patient.pdf DO https://discovery.ucl.ac.uk/id/eprint/10159885/2/Houlden_UCHL1_main_document_PARK_revised_clean%2Bnew%20patient.pdf SF ELIB - SuUB Bremen
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