Associated Papers
Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases.
Ciaccio C et al.
Cerebellum (london, England), 2024
Itpr1 regulates the formation of anterior eye segment tissues derived from neural crest cells.
Kinoshita A et al.
Development (cambridge, England), 2021
Disease-associated mutations in inositol 1,4,5-trisphosphate receptor subunits impair channel function.
Terry LE et al.
The Journal of Biological Chemistry, 2020
Gillespie's Syndrome with Minor Cerebellar Involvement and No Intellectual Disability Associated with a Novel ITPR1 Mutation: Report of a Case and Literature Review.
Stendel C et al.
Neuropediatrics, 2019
A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.
van Dijk T et al.
American Journal of Medical Genetics. Part A, 2017
Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias.
Hsiao CT et al.
Plos One, 2017
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
Gerber S et al.
American Journal of Human Genetics, 2016
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