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Nature Communications|December 1, 2020
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar HypoplasiaEkin Ucuncu, Karthyayani Rajamani, Miranda S C Wilson, et al.Cerebellum (London, England)|April 15, 2024
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National StudyDilek Cavusoglu, Gulten Ozturk, Dilsad Turkdogan, et al.The New England Journal of Medicine|August 21, 2014
Somatic mutations in cerebral cortical malformationsSaumya S Jamuar, Anh-Thu N Lam, Martin Kircher, et al.Nature Genetics|November 18, 2014
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsyMikko Muona, Samuel F Berkovic, Leanne M Dibbens, et al.Pageof 4