AMFR dysfunction causes spastic paraplegia amenable to statin treatment in a preclinical model
Ruizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, et al.
DOI: https://doi.org/10.1007/s00401-023-02579-9
Publications
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451 publications
The genomic landscape of familial glioma
Dong-Joo Choi, Georgina Armstrong, Brittney Lozzi, et al.
DOI: https://doi.org/10.1126/sciadv.ade2675
A retrospective analysis of phosphatase catalytic subunit gene variants in patients with rare disorders identifies novel candidate neurodevelopmental disease genes
Ekaterina Lyulcheva-Bennett, Genomics England Research Consortium, Daimark Bennett
DOI: https://doi.org/10.3389/fcell.2023.1107930
Germline homozygous missense DEPDC5 variant causes a novel fatal phenotype of refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
Athina Ververi, Sara Zagaglia, Lara Menzies, et al.
DOI: https://doi.org/10.1093/hmg/ddac225
Risk-conferring HLA variants in an epilepsy cohort: benefits of multifaceted use of whole genome sequencing in clinical practice
Angeliki Vakrinou, Ravishankara Bellampalli, Medine I Gulcebi, et al.
DOI: https://doi.org/10.1136/jnnp-2023-331419