Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing lossÉlodie M. Richard, Michele Pinelli, Thomas Meitinger et al.|The American Journal of Human Genetics|2021Cited by 42
Brain lesion scores obtained using a simple semi-quantitative scale from MR imaging are associated with motor function, communication and cognition in dyskinetic cerebral palsyOlga Laporta‐Hoyos, Roslyn N. Boyd, Lee B. Reid et al.|NeuroImage Clinical|2018Cited by 30
Bi-allelic variants in <i>CHKA</i> cause a neurodevelopmental disorder with epilepsy and microcephalyChiara Klöckner, Konrad Platzer, Saghar Ghasemi Firouzabadi et al.|Brain|2022Cited by 14
<i>TRAPPC6B</i> biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptionsHashem Almousa, Claudia Raveli, Rıza Köksal Özgül et al.|Brain|2023Cited by 7