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Nucleosides, Nucleotides & Nucleic Acids|December 2, 2004
Adenylosuccinate lyase deficiency--first British caseA M Marinaki, M Champion, M A Kurian, et al.Molecular Genetics and Metabolism|October 1, 2011
Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like diseaseE Meyer, M A Kurian, N V Morgan, et al.Orphanet Journal of Rare Diseases|February 1, 2018
Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous systemL Marti-Sanchez, J D Ortigoza-Escobar, A Darling, et al.Neurology|April 30, 2008
Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)M A Kurian, N V Morgan, L MacPherson, et al.Molecular Genetics and Metabolism|April 22, 2014
PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset diseaseM A Illingworth, E Meyer, W K Chong, et al.AJNR. American Journal of Neuroradiology|June 30, 2022
Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain TumorsC A P F Alves, O Sherbini, F D'Arco, et al.Pageof 2