Heterozygous UCHL1 is a Novel Cause of Autosomal Dominant Neurodegeneration 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 van Os,Rita Horvath,Patrick Chinnery,May Yung Tiet,Channa Hewamadduma,Marios Hadjivassiliou,George K. Tofaris,Nicholas Wood,Stefanie Nicole Hayer,Friedemann Bender,Benita Menden,Isabell Cordts,Joachim K. Krauss,Christian Blahak,Tim Strom,Marc Sturm,Bart Van De Warrenburg,Holger Lerche,Boris Macek,Matthis Synofzik,Stephan Ossowski,Dagmar Timmann-Braun,Marc Wolf,Smedley Damien,Olaf Riess,Ludger Schoels,Holger Hengel,Henry Houlden,Tobias Haack EUROPEAN JOURNAL OF HUMAN GENETICS（2023）
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