A rare genetic disorder provides insights into mechanisms of early-onset neurodegeneration
Cherif Badja,Sophie Momen,Gene Ching Cheik Koh,Soraya Boushaki,Theodoros I. Roumeliotis,Zuza Kozik,Ian Jones,Vicky Bousgouni,Joao M. L. Dias,Marios Krokidis,Jamie Young, Hongwei Chen,Ming Yang,France Docquier,Yasin Memari,Lorea Valcarcel-Jimenez,Komal Gupta,Li Ren Kong,Heather Fawcett, Florian Robert, Salome Zhao,Andrea Degasperi,Helen Davies,Rebecca Harris,Christian Frezza,Chryssostomos Chatgilialoglu,Robert Sarkany,Alan Lehmann,Chris Bakal,Jyoti Choudhary,Hiva Fassihi,Serena Nik-Zainal medRxiv (Cold Spring Harbor Laboratory)（2023）
Key words
neurodegeneration,rare genetic disorder,early-onset
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