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Heterozygous UCHL1 Loss-of-function Variants Cause a Neurodegenerative Disorder with Spasticity, Ataxia, Neuropathy, and Optic Atrophy

Joohyun Park,Arianna Tucci,Valentina Cipriani,German Demidov,Clarissa Rocca,Jan Senderek,Michaela Butryn,Ana Velic,Tanya Lam,Evangelia Galanaki,Elisa Cali,Letizia Vestito,Reza Maroofian,Natalie Deininger,Maren Rautenberg,Jakob Admard,Gesa-Astrid Hahn,Claudius Bartels,Nienke J. H. van Os,Rita Horvath,Patrick F. Chinnery,May Yung Tiet,Channa Hewamadduma,Marios Hadjivassiliou,George K. Tofaris,Nicholas W. Wood,Stefanie N. Hayer,Friedemann Bender,Benita Menden,Isabell Cordts,Katrin Klein,Huu Phuc Nguyen,Joachim K. Krauss,Christian Blahak,Tim M. Strom,Marc Sturm,Bart van de Warrenburg,Holger Lerche,Boris Macek,Matthis Synofzik,Stephan Ossowski,Dagmar Timmann,Marc E. Wolf,Damian Smedley,Olaf Riess,Ludger Schoels,Henry Houlden,Tobias B. Haack,Holger Hengel

Genetics in Medicine（2023）

Cited 9|Views51
Key words
Gene burden,Proteomics,Spastic ataxia,UCHL1
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