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Movement Disorders : Official Journal of the Movement Disorder Society|May 2, 2021
An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related DiseaseArianna Ferrini, Dora Steel, Katy Barwick, et al.
Epigenomics|May 4, 2022
Comparison of methylation episignatures in KMT2B- and KMT2D-related human disordersSunwoo Lee, Eguzkine Ochoa, Katy Barwick, et al.
Molecular Genetics & Genomic Medicine|April 30, 2020
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gateAlba Sanchis-Juan, Marcia A Hasenahuer, James A Baker, et al.
Brain : a Journal of Neurology|March 18, 2021
Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapiesGiada Rossignoli, Karolin Krämer, Eleonora Lugarà, et al.
Cells|April 13, 2023
Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-DystoniaKimberley M Reid, Dora Steel, Sanjana Nair, et al.
Annals of Neurology|September 13, 2025
Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental StudyAdeline Ngoh, Maria Clark, Rebecca Greenaway, et al.
Neurology|April 11, 2023
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic VariantsDora Batia Dyne Steel, Federica Rachele Danti, Mohamed Abunada, et al.
Brain : a Journal of Neurology|January 19, 2024
Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapyLucia Abela, Lorita Gianfrancesco, Erica Tagliatti, et al.
Biorxiv : the Preprint Server for Biology|September 25, 2023
Cardiac glycosides restore autophagy flux in an iPSC-derived neuronal model of WDR45 deficiencyApostolos Papandreou, Nivedita Singh, Lorita Gianfrancesco, et al.
American Journal of Human Genetics|November 19, 2013
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizuresEmma L Baple, Reza Maroofian, Barry A Chioza, et al.
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