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Brain : a Journal of Neurology|May 10, 2023
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defectsAndreas Roos, Peter F M van der Ven, Hadil Alrohaif, et al.Brain : a Journal of Neurology|December 15, 2007
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degenerationGiovanni Stevanin, Hamid Azzedine, Paola Denora, et al.Nature Genetics|November 3, 2023
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signalingNika Schuermans, Salima El Chehadeh, Dimitri Hemelsoet, et al.Nature Genetics|April 22, 2014
De novo mutations in HCN1 cause early infantile epileptic encephalopathyCaroline Nava, Carine Dalle, Agnès Rastetter, et al.American Journal of Medical Genetics. Part A|February 8, 2020
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotypeIlana Chilton, Volkan Okur, Giuseppina Vitiello, et al.Brain : a Journal of Neurology|November 26, 2020
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disordersFanny Mochel, Agnès Rastetter, Berten Ceulemans, et al.Annals of Neurology|July 22, 2014
Genetic association signal near NTN4 in Tourette syndromePeristera Paschou, Dongmei Yu, Gloria Gerber, et al.Frontiers in Cell and Developmental Biology|February 2, 2023
<i>PHIP</i>-associated Chung-Jansen syndrome: Report of 23 new individualsAntje Kampmeier, Elsa Leitão, Ilaria Parenti, et al.Neurology|January 9, 2015
The phenotypic spectrum of SCN8A encephalopathyJan Larsen, Gemma L Carvill, Elena Gardella, et al.Nature Communications|November 3, 2022
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome XElsa Leitão, Christopher Schröder, Ilaria Parenti, et al.Pageof 18