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

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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