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Nature Neuroscience|April 5, 2022
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalusPhan Q Duy, Stefan C Weise, Claudia Marini, et al.Nature Genetics|September 29, 2020
Mutations disrupting neuritogenesis genes confer risk for cerebral palsySheng Chih Jin, Sara A Lewis, Somayeh Bakhtiari, et al.American Journal of Human Genetics|October 9, 2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing lossElodie M Richard, Somayeh Bakhtiari, Ashley P L Marsh, et al.American Journal of Human Genetics|October 23, 2018
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and DyskinesiasKatherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, et al.Brain : a Journal of Neurology|May 10, 2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegiaManuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.Pageof 10